Embed Size (px)
Citation preview
References
Aijaz Ahmad Wani, PhD thesis, 2007 133
[1] Abu–Amero KK, Bosley TM (2006) Mitochondrial abnormalities in
patients with LHON-like optic neuropathies. Invest Ophthalmol
Vis Sci 47: 4211-4220.
[2] Acin-Perez R, Bayona-Bafaluy MP, Fernandez-Silva P, Moreno-
Loshuertos R, Perez-Martos A, et al. (2004) Respiratory complex III
is required to maintain complex I in mammalian mitochondria. Mol
Cell 13: 805-815.
[3] Ackrell BA (2002) Cytopathies involving mitochondrial complex II.
Mol Aspects Med 23: 369-384.
[4] Adams JM, Cory S (2001) Life-or-death decisions by the Bcl-2
protein family. Trends Biochem Sci 26: 61-66.
[5] Alberts Bruce, Alexander Johnson, Julian Lewis, Martin Raff, Keith
Roberts, et al. (1994) Molecular Biology of the Cell, New York:
Garland Publishing Inc.
[6] Andersen JK (2004) Oxidative stress in neurodegeneration: cause or
consequence? Nat Med 10 Suppl: S18-25.
[7] Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, et
al. (1981) Sequence and organization of the human mitochondrial
genome. Nature 290: 457-465.
[8] Andersson SG, Zomorodipour A, Andersson JO, Sicheritz-Ponten T,
Alsmark UC, et al. (1998) The genome sequence of Rickettsia
prowazekii and the origin of mitochondria. Nature. 396: 133-140.
[9] Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull
DM, et al. (1999) Reanalysis and revision of the Cambridge
reference sequence for human mitochondrial DNA. Nat Genet 23:
147.
[10] Angell JE, Lindner DJ, Shapiro PS, Hofmann ER, Kalvakolanu DV
(2000) Identification of GRIM-19, a novel cell death-regulatory gene
induced by the interferon-beta and retinoic acid combination, using
a genetic approach. J Biol Chem 275: 33416-33426.
134
[11] Antonicka H, Floryk D, Klement P, Stratilova L, Hermanska J, et
al. (1999) Defective kinetics of cytochrome c oxidase and alteration
of mitochondrial membrane potential in fibroblasts and cytoplasmic
hybrid cells with the mutation for myoclonus epilepsy with ragged-
red fibres ('MERRF') at position 8344 nt. Biochem J 3: 537-544.
[12] Antonicka H, Mattman A, Carlson CG, Glerum DM, Hoffbuhr KC,
et al. (2003a) Mutations in COX15 produce a defect in the
mitochondrial heme biosynthetic pathway, causing early-onset fatal
hypertrophic cardiomyopathy. Am J Hum Genet 72: 101-114.
[13] Antonicka H, Ogilvie I, Taivassalo T, Anitori RP, Haller RG, et al.
(2003b) Identification and characterization of a common set of
complex I assembly intermediates in mitochondria from patients
with complex I deficiency. J Biol Chem 278: 43081-43088.
[14] Asoh S, Mori T, Hayashi JI, Ohta S (1996) Expression of the
apoptosis-mediator Fas is enhanced by dysfunctional mitochondria.
J Biochem (Tokyo) 120: 600-607
[15] Attardi G, Schatz G (1988) Biogenesis of mitochondria. Annu Rev
Cell Biol 4: 289-333.
[16] Aure K, Fayet G, Leroy JP, Lacene E, Romero NB, et al. (2006)
Apoptosis in mitochondrial myopathies is linked to mitochondrial
proliferation. Brain 129: 1249-1259.
[17] Bai Y, Hajek P, Chomyn A, Chan E, Seo BB, et al. (2001) Lack of
complex I activity in human cells carrying a mutation in MtDNA-
encoded ND4 subunit is corrected by the Saccharomyces cerevisiae
NADH-quinone oxidoreductase (NDI1) gene. J Biol Chem 276:
38808-38813
[18] Battisti C, Formichi P, Cardaioli E, Bianchi S, Mangiavacchi P, et
al. (2004) Cell response to oxidative stress induced apoptosis in
patients with Leber's hereditary optic neuropathy. J Neurol
Neurosurg Psychiatry 75: 1731-1736.
References
Aijaz Ahmad Wani, PhD thesis, 2007 135
[19] Baysal BE (2002) Hereditary paraganglioma targets diverse
paraganglia. J Med Genet 39: 617-622.
[20] Benit P, Chretien D, Kadhom N, de Lonlay-Debeney P, Cormier-
Daire V, et al. (2001) Large-scale deletion and point mutations of
the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex
I deficiency. Am J Hum Genet 68: 1344-1352.
[21] Beretta S, Mattavelli L, Sala G, Tremolizzo L, Schapira AHV, et al.
(2004) Leber hereditary optic neuropathy mtDNA mutations disrupt
glutamate transport in cybrid cell lines. Brain 127: 2183-2189.
[22] Berg JM, Tymoczko JL, Stryer L, Clarke ND (2002) Biochemistry
5th edition, W H Freeman & Company, New York.
[23] Bernacki SH, Stankovic AK, Williams LO, Beck JC, Herndon JE, et
al. (2003) Establishment of stably EBV-transformed cell lines from
residual clinical blood samples for use in performance evaluation
and quality assurance in molecular genetic testing. J Mol Diagn 5:
227-230.
[24] Bernardi P, Petronilli V, Di Lisa F, Forte M (2001) A mitochondrial
perspective on cell death. Trends Biochem Sci 26: 112-127.
[25] Bernier FP, Boneh A, Dennett X, Chow CW, Cleary MA, et al.
(2002) Diagnostic criteria for respiratory chain disorders in adults
and children. Neurology 59: 1406-1411.
[26] Bindoff LA, Howell N, Poulton J, McCullough DA, Morten KJ, et al.
(1993) Abnormal RNA processing associated with a novel tRNA
mutation in mitochondrial DNA. A potential disease mechanism. J
Biol Chem 268: 19559-19564.
[27] Blok MJ, Spruijt L, de Coo IF, Schoonderwoerd K, Hendrickx A, et
al. (2007) Mutations in the ND5 subunit of complex I of the
mitochondrial DNA are a frequent cause of oxidative
phosphorylation disease. J Med Genet 44: e74.
[28] Bolter CJ, Chefurka W (1990) Extramitochondrial release of
hydrogen peroxide from insect and mouse liver mitochondria using
the respiratory inhibitors phosphine, myxothiazol, and antimycin
136
and spectral analysis of inhibited cytochromes. Arch Biochem
Biophys 278: 65-72.
[29] Bourgeois M, Goutieres F, Chretien D, Rustin P, Munnich A, et al.
(1992) Deficiency in complex II of the respiratory chain presenting
as a leukodystrophy in two sisters with Leigh syndrome. Brain Dev
14: 404-408.
[30] Bourgeron T, Rustin P, ChretienD, Birch-Machin M, Bourgeois M,
et al. (1995) Mutation of nuclear succinate dehydrogenase gene
results in mitochondrial respiratory chain deficiency. Nature
Genetics 11: 144-149
[31] Bowmaker M, Yang MY, Yasukawa T, Reyes A, Jacobs HT, et al.
(2003) Mammalian mitochondrial DNA replicates bidirectionally
from an initiation zone. J Biol Chem 278: 50961-50969.
[32] Bradford MM (1976) A rapid and sensitive method for the
quantitation of microgram quantities of protein utilizing the
principle of protein-dye binding. Anal Biochem 72: 248-254.
[33] Bristow EA, Giffiths PG, Andrews RM, Johnson MA, Turnbull DM
(2002) The distribution of mitochondrial activity in relation to optic
nerve structure. Arch Ophthalmol 120: 791-796.
[34] Brown MD, Torroni A, Reckord CL, Wallace DC (1995) Phylogenetic
analysis of Leber's hereditary optic neuropathy mitochondrial
DNA's indicates multiple independent occurrences of the common
mutations. Hum Mutat 6: 311-325.
[35] Brown MD, Voljavec AS, Lott MT, Torroni A, Yang CC, et al. (1992)
Mitochondrial DNA complex I and III mutations associated with
Leber's hereditary optic neuropathy. Genetics 130: 163-173.
[36] Cadenas E, Davies KJA (2000) Mitochondrial free radical
generation, oxidative stress, and aging. Free Radic Biol Med 29:
222-230.
References
Aijaz Ahmad Wani, PhD thesis, 2007 137
[37] Carelli V, Giordano C, d'Amati G (2003) Pathogenic expression of
homoplasmic mtDNA mutations needs a complex nuclear-
mitochondrial interaction. Trends Genet 19: 257-262.
[38] Carroll J, Fearnley IM, Shannon RJ, Hirst J, Walker JE (2003)
Analysis of the subunit composition of complex I from bovine heart
mitochondria. Mol Cell Proteomics 2: 117-126.
[39] Carroll J, Fearnley IM, Skehel JM, Shannon RJ, Hirst J, et al.
(2006) Bovine complex I is a complex of 45 different subunits. J
Biol Chem 281: 32724-32727.
[40] Cascon A, Ruiz-Llorente S, Cebrian A, Telleria D, Rivero JC, et al.
(2002) Identification of novel SDHD mutations in patients with
phaeochromocytoma and/or paraganglioma. Eur J Hum Genet 10:
457-461.
[41] Castagna AE, Addis J, McInnes RR, Clarke JT, Ashby P, et al.
(2007) Late onset Leigh syndrome and ataxia due to a T to C
mutation at bp 9185 of mitochondrial DNA. Am J Med Genet A
143: 808-816.
[42] Chinnery PF, Brown DT, Andrews RM, Singh-Kler R, Riordan-Eva
P, et al. (2001) The mitochondrial ND6 gene is a hot spot for
mutations that cause Leber’s hereditary optic neuropathy. Brain
124: 209-218.
[43] Chinnery PF, Taylor RW, Diekert K, Lill R, Turnbull DM, et al.
(1999) Peptic nucleic acid delivery to human mitochondria. Gene
Therapy 6: 1919-1928
[44] Ciafaloni E, Ricci E, Shanske S, Moraes CT, Silvestri G, et al.
(1992) MELAS: clinical features, biochemistry, and molecular
genetics. Ann Neurol 31: 391-398.
[45] Clayton DA (1982) Replication of animal mitochondrial DNA. Cell
28: 693-705.
138
[46] Corona P, Antozzi C, Carrara F, D’Incerti L, Lamantea E, et al.
(2001) A novel mtDNA mutation in the ND5 subunit of complex I in
two MELAS patients. Ann Neurol 49: 106-110.
[47] Crompton M, Virji S, Doyle V, Johnson N, Ward JM (1999) The
mitochondrial permeability transition pore. Biochem Soc Symp 66:
167-179.
[48] Cyrne L, Martins L, Fernandes L, Marinho HS (2003) Regulation of
antioxidant enzymes gene expression in the yeast Saccharomyces
cerevisiae during stationary phase. Free Radic Biol Med 34: 385-
393.
[49] Da Pozzo P, Cardaioli E, Radi E, Federico A (2004) Sequence
analysis of the complete mitochondrial genome in patients with
mitochondrial encephaloneuromyopathies lacking the common
pathogenic DNA mutations. Biochem Biophys Res Commun 324:
360-364.
[50] Dahl HH (1998) Getting to the nucleus of mitochondrial disorders:
identification of respiratory chain-enzyme genes causing Leigh
syndrome. Am J Hum Genet 63: 1594-1597.
[51] Dalton TP, Shertzer HG, Puga A (1999) Regulation of gene
expression by reactive oxygen. Annu Rev Pharmacol Toxicol 39:
67-101
[52] Danan C, Sternberg D, Van Steirteghem A, Cazeneuve C,
Duquesnoy P, et al. (1999) Evaluation of parental mitochondrial
inheritance in neonates born after intracytoplasmic sperm injection.
Am J Hum Genet 65: 463-473.
[53] Danielson SR, Wong A, Carelli V, Martinuzzi A, Schapira AH, et al.
(2002) Cells bearing mutations causing Leber's hereditary optic
neuropathy are sensitized to Fas-Induced apoptosis. J Biol Chem
277: 5810-5815.
[54] Dannenberg H, Dinjens WN, Abbou M, Van Urk H, Pauw BK, et al.
(2002) Frequent germ-line succinate dehydrogenase subunit D gene
References
Aijaz Ahmad Wani, PhD thesis, 2007 139
mutations in patients with apparently sporadic parasympathetic
paraganglioma. Clin Cancer Res 8: 2061-2066.
[55] Darzynkiewicz Z, Gong J, Traganos F (1994) Analysis of DNA
content and cyclin protein expression in studies of DNA ploidy,
growth fraction, lymphocyte stimulation, and the cell cycle.
Methods Cell Biol 41: 421-435.
[56] de Lonlay P, Valnot I, Barrientos A, Gorbatyuk M, Tzagoloff A, et
al. (2001) A mutant mitochondrial respiratory chain assembly
protein causes complex III deficiency in patients with tubulopathy,
encephalopathy and liver failure. Nat Genet 29: 57-60.
[57] Del Maestro RF, McDonald W (1985) Oxidative enzymes in tissue
homogenates. In: Greenwald RA, ed. Handbook of Methods for
Oxygen Radical Research. Boca Raton, Fla: CRC Press 291-296.
[58] DiMauro S (1996) Multiple mitochondrial DNA deletions associated
with autosomal recessive ophthalmoplegia and severe
cardiomyopathy. Neurology 46: 1329-1334.
[59] DiMauro S, Andreu AL (2000) Mutations in mtDNA: are we
scraping the bottom of the barrel? Brain Pathol 10: 431-441.
[60] DiMauro S, Gurgel-Giannetti J (2005) The expanding phenotype of
mitochondrial myopathy. Curr Opin Neurol 18: 538-542.
[61] DiMauro S, Hirano M (2005) Mitochondrial encephalomyopathies:
an update. Neuromuscul Disord 15: 276-286.
[62] DiMauro S, Moraes CT (1993) Mitochondrial encephalomyopathies.
Arch Neurol 50: 1197-1208.
[63] DiMauro S, Schon EA (2003) Mitochondrial respiratory chain
diseases. N Engl J Med 348: 2656-2668.
[64] Du G, Mouithys-Mickalad A, Sluse FE (1998) Generation of
superoxide anion by mitochondria and impairment of their
functions during anoxia and reoxygenation in vitro. Free Radic
Biol Med 25: 1066-1074.
140
[65] Dunning CJ, McKenzie M, Sugiana C, Lazarou M, Silke J, et al.
(2007) Human CIA30 is involved in the early assembly of
mitochondrial complex I and mutations in its gene cause disease.
EMBO J 26: 3227-3237.
[66] EC Slater (1983) The Q cycle: a ubiquitous mechanism of electron
transfer. Trends Biochem Sci 8: 239-242.
[67] El Mouatassim S, Guerin P, Menezo Y (1999) Expression of genes
encoding antioxidant enzymes in human and mouse oocytes during
the final stages of maturation. Mol Hum Reprod 5: 720-725.
[68] Esposito LA, Melov S, Panov A, Cottrell BA, Wallace DC (1999)
Mitochondrial disease in mouse results in increased oxidative
stress. Proc Natl Acad Sci, USA 96: 4820-4825.
[69] Fauser S, Luberichs J, Besch D, Leo-Kottler B (2002) Sequence
analysis of the complete mitochondrial genome in patients with
Leber's hereditary optic neuropathy lacking the three most common
pathogenic DNA mutations. Biochem Biophys Res Commun 295:
342-347.
[70] Fearnley IM, Carroll J, Shannon RJ, Runswick MJ, Walker JE, et
al. (2001) GRIM-19, a cell death regulatory gene product, is a
subunit of bovine mitochondrial NADH: ubiquinone oxidoreductase
(complex I). J Biol Chem 276: 38345-38348.
[71] Feigenbaum A, Bai RK, Doherty ES, Kwon H, Tan D, et al. (2006)
Novel mitochondrial DNA mutations associated with myopathy,
cardiomyopathy, renal failure, and deafness. Am J Med Genet A
140: 2216-2222.
[72] Fernandez-Silva P, Enriquez JA, Montoya J (2003) Replication and
transcription of mammalian mitochondrial DNA. Exp Physiol 88:
41-56.
[73] Fernandez-Vizarra E, Bugiani M, Goffrini P, Carrara F, Farina L,
et al. (2007) Impaired complex III assembly associated with BCS1L
gene mutations in isolated mitochondrial encephalopathy. Hum
Mol Genet 16: 1241-1252.
References
Aijaz Ahmad Wani, PhD thesis, 2007 141
[74] Ferrari G, Lamantea E, Donati A, Filosto M, Briem E, et al. (2005)
Infantile epatocerebral syndromes associated with mutations in the
mitochondrial DNA polymerase-gammaA. Brain 128: 723-731.
[75] Filosto M, Mancuso M, Nishigaki Y, Pancrudo J, Harati Y, et al.
(2003) Clinical and genetic heterogeneity in progressive external
ophthalmoplegia due to mutations in polymerase gamma. Arch
Neurol 60: 1279-1284.
[76] Filosto M, Mancuso M, Vives-Bauza C, Vila MR, Shanske S, et al.
(2003) Lack of paternal inheritance of muscle mitochondrial DNA in
sporadic mitochondrial myopathies. Ann Neurol 54: 524-526.
[77] Fleury C, Mignotte B, Vayssiere JL (2002) Mitochondrial reactive
oxygen species in cell death signaling. Biochimie 84: 131-141
[78] Flohe L, Gunzler WA (1984) Assays of glutathione peroxidase.
Methods Enzymol 105: 114-121.
[79] Floreani M, Napoli E, Martinuzzi A, Pantano G, De Riva V, et al.
(2005) Antioxidant defences in cybrids harboring mtDNA mutations
associated with Leber’s hereditary optic neuropathy. FEBS J 272:
1124-1135.
[80] Formichi P, Battisti C, Bianchi S, Cardaioli E, Federico A (2003)
Evidence of apoptosis via TUNEL staining in muscle biopsy from
patients with mitochondrial encephaloneuromyopathies. J
Submicrosc Cytol Pathol 35: 29-34.
[81] Fukuhara N, Tokiguchi S, Shirakawa K, Tsubaki T (1980)
Myoclonus epilepsy associated with ragged-red fibers
(mitochondrial abnormalities): disease entity or a syndrome? Light-
and electron-microscopic studies of two cases and review of
literature. J Neurol Sci 47: 117-133
[82] Futuyma, Douglas J (2005) "On Darwin's Shoulders" Natural
History 114: 64-68.
[83] Garcia de la Asuncion J, Millán A, Pla R, Bruseghini L, Esteras A,
et al. (1996) Mitochondrial glutathione oxidation correlates with
142
age-associated oxidative damage to mitochondrial DNA. FASEB J
10: 333-338.
[84] Garesse R, Vallejo CG (2001) Animal mitochondrial biogenesis and
function: a regulatory cross-talk between two genomes. Gene 263:1-
16.
[85] Ghelli A, Zanna C, Porcelli AM, Schapira AH, Martinuzzi A, et al.
(2003) Leber's hereditary optic neuropathy (LHON) pathogenic
mutations induce mitochondrial-dependent apoptotic death in
transmitochondrial cells incubated with galactose medium. J Biol
Chem 278: 4145-4150.
[86] Goto Y, Nonaka I, Horai S (1990) A mutation in the tRNA
(Leu)(UUR) gene associated with the MELAS subgroup of
mitochondrial encephalo-myopathies. Nature 348: 651-653.
[87] Gray MW, Burger G, Lang BF (1999) Mitochondrial evolution.
Science 283: 1476-1481.
[88] Guy J, Qi X, Pallotti F, Schon EA, Manfredi G, et al. (2002) Rescue
of a mitochondrial deficiency causing Leber hereditary optic
neuropathy. Ann Neurol 52: 534-542
[89] Habig WH, Pabst MJ, Jakoby WB (1974) Gluthatione-S-
transferase:the first enzymatic step in mercapturic acid formation.
J Biol Chem 249: 7130-7139.
[90] Halliwell B (1999) Antioxidant defence mechanisms: from the
beginning to the end (of the beginning). Free Radic Res 31: 261-
272.
[91] Halliwell B, Gutteridge JM (1995). The definition and measurement
of antioxidants in biological systems. Free Radic Biol Med 18:
125-126.
[92] Halliwell B, Whiteman M (2004) Measuring reactive species and
oxidative damage in vivo and in cell culture: how should you do it
and what do the results mean? Br J Pharmacol 142: 231-255.
References
Aijaz Ahmad Wani, PhD thesis, 2007 143
[93] Hanson BJ, Marusich MF, Capaldi (2001) Antibody-based
approaches to diagnosis and characterization of oxidative
phosphorylation diseases. Mitochondrion 1: 237-248.
[94] Harding AE, Sweeney MG, Govan GG, Riordan-Eva P (1995)
Pedigree analysis in Leber hereditary optic neuropathy families
with a pathogenic mtDNA mutation. Am J Hum Genet 1 57: 77-86.
[95] Harris MH, Thompson CB (2000) The role of the Bcl-2 family in the
regulation of outer mitochondrial membrane permeability. Cell
Death Differ 7: 1182-1191.
[96] Hatefi Y (1985) The mitochondrial electron transport chain and
oxidative phosphorylation system. Annu Rev Biochem 54: 1015-
1069.
[97] Hayakawa M, Hattori K, Sugiyama S, Ozawa T (1992) Age-
associated oxygen damage and mutations in mitochondrial DNA in
human heart. Biochem Biophys Res Commun 189: 979-985.
[98] Hederstedt L, Ohnishi L (1992) Progress in succinate:quinone
oxidoreductase research. In: Molecular Mechanisms in
Bioeneregetics (L Ernster, Ed.), Elsevier Science Publishers,
London, 163-198.
[99] Henze K, Martin W (2003) Evolutionary biology: essence of
mitochondria. Nature 426: 127-128.
[100] Herrmann M, Lorenz HM, Voll R, Grunke M, Woith W, et al. (1994)
A rapid and simple method for the isolation of apoptotic DNA
fragments. Nucleic Acids Res 22: 5506-5507.
[101] Herrnstadt C, Howell N (2004) An evolutionary perspective on
pathogenic mtDNA mutations: haplogroup associations of clinical
disorders. Mitochondrion 4: 791-798.
[102] Hetts SW (1998) To die or not to die. An overview of apoptosis and
its role in disease. JAMA 279: 300-307.
[103] Higuchi M, Proske RJ, Yeh ET (1998) Inhibition of mitochondrial
respiratory chain complex I by TNF results in cytochrome c release,
144
membrane permeability transition, and apoptosis. Oncogene 17:
2515-2524.
[104] Hinson JT, Fantin VR, Schonberger J, Breivik N, Siem G, et al.
(2007) Missense mutations in the BCS1L gene as a cause of the
Bjornstad syndrome. N Engl J Med 356: 809-819.
[105] Hirano M, Marti R, Ferreiro-Barros C, Vila MR, Tadesse S, et al.
(2001) Defects of intergenomic communication: autosomal disorders
that cause multiple deletions and depletion of mitochondrial DNA.
Semin Cell Dev Biol 12: 417-427.
[106] Hofhaus G, Attardi G (1993) Lack of assembly of mitochondrial
DNA-encoded subunits of respiratory NADH dehydrogenase and
loss of enzyme activity in a human cell mutant lacking the
mitochondrial ND4 gene product. EMBO J 12: 3043-3048.
[107] Holt IJ, Cooper JM, Morgan-Hughes JA, Harding AE (1988)
Deletions of muscle mitochondrial DNA. Lancet 1: 1462.
[108] Holt IJ, Harding AE, Cooper JM, Schapira AH, Toscano A, et al.
(1989) Mitochondrial myopathies: clinical and biochemical features
of 30 patients with major deletions of muscle mitochondrial DNA.
Ann Neurol 26: 699-708.
[109] Holt IJ, Harding AE, Petty RK, Morgan-Hughes JA. (1990) A new
mitochondrial disease associated with mitochondrial DNA
heteroplasmy. Am J Hum Genet 46: 428-433.
[110] Holt IJ, Lorimer HE, Jacobs HT (2000) Coupled leading and
lagging-strand synthesis of mammalian mitochondrial DNA. Cell
100: 515-524.
[111] Houshmand M, Holme E, Hanson C, Wennerholm UB, Hamberger
L (1997) Is paternal mitochondrial DNA transferred to the offspring
following intracytoplasmic sperm injection? J Assist Reprod Genet
14: 223-227.
[112] Howell N, Kubacka I, Xu M, McCullough DA (1991) Leber
hereditary optic neuropathy: involvement of the mitochondrial ND1
References
Aijaz Ahmad Wani, PhD thesis, 2007 145
gene and evidence for an intragenic suppressor mutation. Am J
Hum Genet 48: 935-942.
[113] Hudson G, Keers S, Yu Wai Man P, Griffiths P, Huoponen K, et al.
(2005) Identification of an X-chromosomal locus and haplotype
modulating the phenotype of a mitochondrial DNA disorder. Am J
Hum Genet 77: 1086-1091.
[114] Hung PC, Wang HS (2007) A previously undescribed
leukodystrophy in Leigh syndrome associated with T9176C
mutation of the mitochondrial ATPase 6 gene. Dev Med Child
Neurol 49: 65-67.
[115] Hutchin TP, Cortopassi GA (2000) Mitochondrial defects and
hearing loss. Cell Mol Life Sci 57: 1927-1937.
[116] Hwang PM, Bunz F, Yu J, Rago C, Chan TA, et al. (2001)
Ferredoxin reductase affects p53-dependent, 5-fluorouracil-induced
apoptosis in colorectal cancer cells. Nat Med 7: 1111-1117.
[117] Ikezoe K, Nakagawa M, Yan C, Kira J, Goto Y, et al. (2002)
Apoptosis is suspended in muscle of mitochondrial
encephalomyopathies. Acta Neuropathol 103: 531-540.
[118] Ionasescu V (1983) Oculogastrointestinal muscular dystrophy. Am
J Med Genet 15: 103-112.
[119] Jaksch M, Paret C, Stucka R, Horn N, Muller-Hocker J, et al. (2001)
Cytochrome c oxidase deficiency due to mutations in SCO2,
encoding a mitochondrial copper-binding protein, is rescued by
copper in human myoblasts. Hum Mol Genet 10: 3025-3035.
[120] Janssen R, Smeitink J, Smeets R, van den Heuvel L (2002) CIA30
complex I assembly factor: a candidate for human complex I
deficiency? Hum Genet 110: 264-270.
[121] Janssen RJ, van den Heuvel LP, Smeitink JA (2004) Genetic defects
in the oxidative phosphorylation (OXPHOS) system. Expert Rev
Mol Diagn 4:143-156.
146
[122] Jazin EE, Cavelier L, Eriksson I, Oreland L, Gyllensten U (1996)
Human brain contains high levels of heteroplasmy in the noncoding
regions of mitochondrial DNA. Proc Natl Acad Sci, USA 93:
12382-12387.
[123] Jensen M, Leffers H, Petersen JH, Nyboe Andersen A, Jorgensen N,
et al. (2004) Frequent polymorphism of the mitochondrial DNA
polymerase gamma gene (POLG) in patients with normal
spermiograms and unexplained subfertility. Hum Reprod 19: 65-
70.
[124] Kaukonen J, Juselius JK, Tiranti V, Kyttala A, Zeviani M, et al.
(2000) Role of adenine nucleotide translocator 1 in mtDNA
maintenance. Science 289: 782-785.
[125] Kearns TP, Sayre GP (1958) Retinitis pigmentosa, external
ophthalmoplegia and complete heart block. Ophthalmology 60:
280-289.
[126] Kiechl S, Horvath R, Luoma P, Kiechl-Kohlendorfer U, Wallacher-
Scholz B, et al. (2004) Two families with autosomal dominant
progressive external ophthalmoplegia. J Neurol Neurosurg
Psychiatry 75: 1125-1128.
[127] Kirby DM, Crawford M, Cleary MA, Dahl HHM, Denneth X, et al.
(1999) Respiratory chain complex I deficiency: an under diagnosed
energy generation disorder. Neurology 52: 1255-1264.
[128] Kluck RM, Bossy-Wetzel E, Green DR, Newmeyer DD (1997) The
release of cytochrome c from mitochondria: a primary site for Bcl-2
regulation of apoptosis. Science 275: 1132-1136.
[129] Kolesnikova OA, Entelis NS, Jacquin-Becker C, Goltzene F,
Chrzanowska-Lightowlers ZM, et al. (2004) Nuclear DNA-encoded
tRNAs targeted into mitochondria can rescue a mitochondrial DNA
mutation associated with the MERRF syndrome in cultured human
cells. Hum Mol Genet 13: 2519-2534
References
Aijaz Ahmad Wani, PhD thesis, 2007 147
[130] Kolesnikova OA, Entelis NS, Mireau H, Fox TD, Martin RP, et al.
(2000) Suppression of mutations in mitochondrial DNA by tRNAs
imported from the cytoplasm. Science 289: 1931-1933
[131] Korhonen JA, Gaspari M, Falkenberg M (2003) TWINKLE has 5'–3'
DNA helicase activity and is specifically stimulated by
mitochondrial single stranded DNA-binding protein. J Biol Chem
278: 48627-48632.
[132] Kovalenko SA, Tanaka M, Yoneda M, Iakovlev AF, Ozawa T (1996)
Accumulation of somatic nucleotide substitutions in mitochondrial
DNA associated with the 3243 A to G tRNA(leu)(UUR) mutation in
encephalomyopathy and cardiomyopathy. Biochem Biophys Res
Commun 222: 201-207.
[133] Kroemer G, Zamzami N, Susin SA (1997) Mitochondrial control of
apoptosis. Immunol Today 18: 44-51.
[134] Kyte, Jack and Doolittle, Russell F (1982) A Simple Method for
Displaying the Hydropathic Character of a Protein. J Mol Biol 157:
105-132.
[135] Larsson NG, Clayton DA (1995) Molecular genetic aspects of human
mitochondrial disorders. Annu Rev Genet 29: 151-178.
[136] Leist M, Single B, Castoldi AF, Kuhnle S, Nicotera P (1997)
Intracellular adenosine triphosphate (ATP) concentration: a switch
in the decision between apoptosis and necrosis. J Exp Med 185:
1481-1486
[137] Leonard JV, Schapira AHV (2000a) Mitochondrial respiratory chain
disorders I: mitochondrial DNA defects. Lancet 355: 299-304.
[138] Leonard JV, Schapira AHV (2000b). Mitochondrial respiratory
chain disorders II: neurodegenerative disorders and nuclear gene
defects. Lancet 355: 389-394.
[139] Liang MH, Wong LJ (1998) Yield of mtDNA mutation analysis in
2000 patients. Am J Med Genet 5: 395-400.
148
[140] Liu X, Kim CN, Yang J, Jemmerson R, Wang X, et al. (1996)
Induction of apoptotic program in cell-free extracts: requirement for
dATP and cytochrome c. Cell 86: 147-57.
[141] Loeffen J, Elpeleg O, Smeitink J, Smeets R, Stockler-Ipsiroglu S, et
al. (2001) Mutations in the complex I NDUFS2 gene of patients with
cardiomyopathy and encephalomyopathy. Ann Neurol 49: 195-201.
[142] Loeffen J, Smeitink J, Triepels R, Smeets R, Schuelke M, et al.
(1998) The first nuclear-encoded complex I mutation in a patient
with Leigh syndrome. Am J Hum Genet 63: 1598-1608.
[143] Loeffen JL, Smeitink JA, Trijbels JM, Janssen AJM, Triepels RH, et
al. (2000) Isolated complex I deficiency in children: clinical,
biochemical and genetic aspects. Hum Mutat 15: 123-134.
[144] Luo X, Pitkanen S, Kassovska-Bratinova S, Robinson BH, Lehotay
D (1997) Excessive formation of hydroxyl radicals and aldehydic
lipid peroxidation products in cultured skin fibroblasts from
patients with Complex I deficiency. J Clin Invest 99: 2877-2882.
[145] Mahata B, Mukherjee S, Mishra S, Bandyopadhyay A, Adhya S
(2006) Functional delivery of a cytosolic tRNA into mutant
mitochondria of human cells. Science 314: 471-474.
[146] Maher ER, Eng C (2002) The pressure rises: update on the genetics
of phaeochromocytoma. Hum Mol Genet 11: 2347-2354.
[147] Man PY, Turnbull DM, Chinnery PF (2002) Leber hereditary optic
neuropathy. J Med Genet 39: 162-169.
[148] Manfredi G, Fu J, Ojaimi J, Sadlock JE, Kwong JQ, et al. (2002)
Rescue of an ATP synthesis deficiency in mtDNA-mutant human
cells by transfer of MTATP6, a mtDNA-encoded gene, to the
nucleus. Nat Genet 30: 394-399
[149] Marchington DR, Poulton J, Sellar A, Holt IJ (1996) Do sequence
variants in the major non-coding region of the mitochondrial
genome influence mitochondrial mutations associated with disease?
Hum Mol Genet 5: 473-479.
References
Aijaz Ahmad Wani, PhD thesis, 2007 149
[150] Marchington DR, Scott Brown MS, Lamb VK, van Golde RJ,
Kremer JA, et al. (2002) No evidence for paternal mtDNA
transmission to offspring or extra-embryonic tissues after ICSI. Mol
Hum Reprod 8: 1046-1049.
[151] Marton A, Mihalik R, Bratincsak A, Adleff V, Petak I, et al. (1997)
Apoptotic cell death induced by inhibitors of energy conservation--
Bcl-2 inhibits apoptosis downstream of a fall of ATP level. Eur J
Biochem 250: 467-475
[152] Martorell L Segues T, Folch G, Valero J, Joven J, et al. (2006) New
variants in the mitochondrial genomes of schizophrenic patients.
Eur J Hum Genet 14: 520-528.
[153] Matsumoto M, Hayasaka S, Kadoi C, Hotta Y, Fujiki K, et al. (1999)
Secondary mutations of mitochondrial DNA in Japanese patients
with Leber's hereditary optic neuropathy. Ophthalmic Genet 20:
153-160.
[154] Mattiazzi M, Vijayvergiya C, Gajewski CD, DeVivo DC, Lenaz G, et
al. (2004) The mtDNA T8993G (NARP) mutation results in an
impairment of oxidative phosphorylation that can be improved by
antioxidants. Hum Mol Genet 13: 869-879.
[155] McFarland R, Clark KM, Morris AA, Taylor RW, Macphail S, et al.
(2002) Multiple neonatal deaths due to a homoplasmic
mitochondrial DNA mutation. Nat Genet 30: 145-146.
[156] McFarland R, Taylor RW, Turnbull DM (2002) The neurology of
mitochondrial DNA disease. Lancet Neurol 1: 343-351.
[157] Mirabella M, Di Giovanni S, Silvestri G, Tonali P, Servidei S (2000)
Apoptosis in mitochondrial encephalomyopathies with
mitochondrial DNA mutations: a potential pathogenic mechanism.
Brain 123: 93-104.
[158] Mitchell AL, Elson JL, Howell N, Taylor RW, Turnbull DM (2006)
Sequence variation in mitochondrial complex I genes: mutation or
polymorphism? J Med Genet 43: 175-179.
150
[159] Montoya J, Gaines GL, Attardi G (1983) The pattern of
transcription of the human mitochondrial rRNA genes reveals two
overlapping transcription units. Cell 34: 151-159.
[160] Morris AAM, Leonard JV, Brown GK, Bidouki SK, Bindoff LA, et al.
(1996) Deficiency of respiratory chain complex I is a common cause
of Leigh disease. Ann Neurol 40: 25-30.
[161] Mozo J, Emre Y, Bouillaud F, Ricquier D, Criscuolo F (2005)
"Thermoregulation: What Role for UCPs in Mammals and Birds?"
Bioscience Reports 227-249.
[162] Munnich A, Rustin P (2001) Clinical spectrum and diagnosis of
mitochondrial disorders. Am J Med Genet 106: 4-17.
[163] Munnich A, Rustin P, Rotig A, Chretien D, Bonnefont JP, et al.
(1992) Clinical aspects of mitochondrial disorders. J Inher Metab
Dis 15: 448-455
[164] Naviaux RK, Nguyen KV (2004) POLG mutations associated with
Alpers’syndrome and mitochondrial DNA depletion. Ann Neurol
55: 706-712.
[165] Neumann HP, Bausch B, McWhinney SR, Bender BU, Gimm O, et
al. (2002) Germ-line mutations in nonsyndromic
pheochromocytoma. N Engl J Med 346: 1459-1466.
[166] Nicholls DG, Lindberg O (1973) "Brown-adipose-tissue
mitochondria. The influence of albumin and nucleotides on passive
ion permeabilities" Eur J Biochem 37: 523-530.
[167] Nijtamans LG, Henderson NS, Holt IJ (2002) Blue native
electrophoresis to study mitochondrial and other protein complexes.
Methods 26: 327-334.
[168] Nishino I, Spinazzola A, Hirano M (2001) MNGIE: from nuclear
DNA to mitochondrial DNA. Neuromuscul Disord 11: 7-10.
[169] Oberley LW, Spitz DZ (1984) Assay of superoxide dismutase activity
in tumor tissue. Methods Enzymol 105: 457-464.
References
Aijaz Ahmad Wani, PhD thesis, 2007 151
[170] O'Brien TW (2003) "Properties of human mitochondrial ribosomes."
IUBMB Life 55: 505-513.
[171] Ogilvie I, Kennaway NG, Shoubridge EA (2005) A molecular
chaperone for mitochondrial complex I assembly is mutated in a
progressive encephalopathy. J Clin Invest 115: 2784-2792.
[172] Ohnishi T (1993) NADH-quinone oxidoreductase, the most complex
complex. J Bioenergetics Biomembranes 25: 325-329.
[173] Ojaimi J, Pan J, Santra S, Snell WJ, Schon EA (2002) An algal
nucleus-encoded subunit of mitochondrial ATP synthase rescues a
defect in the analogous human mitochondrial-encoded subunit. Mol
Biol Cell 13: 3836-3844
[174] Ojala D, Montoya J, Attardi G (1981) tRNA punctuation model of
RNA processing in human mitochondria. Nature 290: 470-474.
[175] Okhuijsen-Kroes EJ, Trijbels JM, Sengers RC, Mariman E, van den
Heuvel LP, et al. (2001) Infantile presentation of the mtDNA
A3243G tRNA(leu(UUR)) mutation. Neuropediatrics 32: 183-190.
[176] Palanichamy MG, Sun C, Agrawal S, Bandelt HJ, Kong QP, et al.
(2004) Phylogeny of mitochondrial DNA macrohaplogroup N in
India based on complete sequencing: implications for the peopling of
South Asia. Am J Hum Genet 75: 966-978.
[177] Pang CY, Lee HC, Wei YH (2001) Enhanced oxidative damage in
human cells harboring A3243G mutation of mitochondrial DNA:
Implication of oxidative stress in the pathogenesis of mitochondrial
diabetes. Diabet Res Clin Pract 54: Suppl 2: S45-56.
[178] Parfait B, Rustin P, Munnich A, Rotig A (1998) Co-amplification of
nuclear pseudogenes and assessment of heteroplasmy of
mitochondrial DNA mutations. Biochem Biophys Res Commun
247: 57-59.
[179] Paudel HK, Yu L, Yu CA (1991) Involvement of a histidine residue
in the interaction between membrane anchoring protein (QPs) and
152
succinate dehydrogenase in mitochondrial succinateubiquinone
reductase. Biochem Biophys Acta 1056: 159-165.
[180] Pavlakis SG, Phillips PC, DiMauro S, De Vivo DC, Rowland LP
(1984) Mitochondrial myopathy, encephalopathy, lactic acidosis, and
strokelike episodes: a distinctive clinical syndrome. Ann Neurol 16:
481- 488.
[181] Pearson HA, Lobel JS, Kocoshis SA, Naiman JL, Windmiller J, et
al. (1979) A new syndrome of refractory sideroblastic anemia with
vacuolization of marrow precursors and exocrine pancreatic
dysfunction. J Pediatr 95: 976-84.
[182] Pereira C, Nogueira C, Barbot C, Tessa A, Soares C, et al. (2007)
Identification of a new mtDNA mutation (14724G>A) associated
with mitochondrial leukoencephalopathy. Biochem Biophys Res
Commun 354: 937-941.
[183] Petrova-Benedict R, Buncic JR, Wallace DC, Robinson BH (1992)
Selective killing of cells with oxidative defects in galactose medium:
a screening test for affected patient fibroblasts. J Inherit Metab
Dis 15: 943-944.
[184] Petruzzella V, Papa S (2002) Mutations in human nuclear genes
encoding for subunits of mitochondrial respiratory complex I: the
NDUFS4 gene. Gene 286: 149 -154.
[185] Petruzzella V, Vergari R, Puzziferri I, Boffoli D, Lamantea E, et al.
(2001) A nonsense mutation in the NDUFS4 gene encoding the 18
kDa (AQDQ) subunit of complex I abolishes assembly and activity of
the complex in a patient with Leigh-like syndrome. Hum Mol
Genet 10: 529-535.
[186] Piccolo G, Banfi P, Azan G, Rizzuto R, Sandona D, et al. (1991)
Biological markers of oxidative stress in mitochondrial myopathies
with progressive external ophthalmoplegia. J Neurol Sci 105: 57-
60.
References
Aijaz Ahmad Wani, PhD thesis, 2007 153
[187] Pigeolet E, Corbisier P, Houbion A, Lambert D, Michileis C, et al.
(1990) Glutathione peroxidase, superoxide dismutase and catalase
inactivation by peroxides and oxygen derived free radicals. Mech
Ageing Dev 15: 283-297.
[188] Pigeolet E, Remacle J (1991) Susceptibility of glutathione
peroxidase to proteolysis after oxidative alterations by peroxides
and hydroxyl radicals. Free Radic Biol Med 11: 191-195.
[189] Pitkanen S, Robinson BH (1996) Mitochondrial complex I deficiency
leads to increased production of superoxide radicals and induction
of superoxide dismutase. J Clin Invest 98: 345-351.
[190] Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, et al. (1996)
Leigh syndrome: clinical features and biochemical and DNA
abnormalities. Ann Neurol 39: 343-351.
[191] Rajkumar R, Banerjee J, Gunturi HB, Trivedi R, Kashyap VK
(2005) Phylogeny and antiquity of M macrohaplogroup inferred
from complete mt DNA sequence of Indian specific lineages. BMC
Evol Biol 5: 26.
[192] Ricci JE, Munoz-Pinedo C, Fitzgerald P, Bailly-Maitre B, Perkins
GA, et al. (2004) Disruption of mitochondrial function during
apoptosis is mediated by caspase cleavage of the p75 subunit of
complex I of the electron transport chain. Cell 117: 773-786.
[193] Richter C, Schweizer M, Cossarizza A, Franceschi C (1996) Control
of apoptosis by the cellular ATP level. FEBS Lett 378: 107-110.
[194] Rieder MJ, Taylor SL, Tobe VO, Nickerson DA (1998) Automating
the identification of DNA variations using quality-based
fluorescence re-sequencing: analysis of the human mitochondrial
genome. Nucleic Acids Res 26: 967-973.
[195] Robinson BH (1996) Use of fibroblast and lymphoblast cultures for
detection of respiratory chain defects. Methods Enzymol 264: 454-
464.
154
[196] Robinson BH (1998) Human complex I deficiency: clinical spectrum
and involvement of oxygen free radicals in the pathogenicity of the
defect. Biochim Biophys Acta 1364: 271-286.
[197] Robinson BH, Petrova-Benedict R, Buncic JR, Wallace DC (1992)
Nonviability of cells with oxidative defects in galactose medium: a
screening test for affected patient fibroblasts. Biochem Med Metab
Biol 48: 122-126.
[198] Rotig A, Lebon S, Zinovieva E, Mollet J, Sarzi E, et al. (2004)
Molecular diagnostics of mitochondrial disorders. Biochim
Biophys Acta 1659: 129-135.
[199] Rovio AT, Marchington DR, Donat S, Schuppe HC, Abel J, et al.
(2001) Mutations at the mitochondrial DNA polymerase (POLG)
locus associated with male infertility. Nat Genet 29: 261-262.
[200] Ruitenbeek W, Wendel U, Trijbels F, Sengers R (1996)
Mitochondrial energy metabolism. In: Blau N, Duran M, Blaskovics
ME (eds): Physician’s guide to the laboratory diagnosis of
metabolic diseases. Chapman and Hall Medical 391-406.
[201] Rush GF, Gorski JR, Ripple MG, Sowinski J, Bugelski P, et al.
(1985) Organic hydroperoxide-induced lipid peroxidation and cell
death in isolated hepatocytes. Toxicol Appl Pharmacol 78: 473-
483.
[202] Rustin P, Chretien D, Bourgeron T, Wucher A, Saudubray JM, et al.
(1991) Assessment of the mitochondrial respiratory chain. Lancet
338: 360.
[203] Rustin P, Rotig A (2002) Inborn errors of complex II--unusual
human mitochondrial diseases. Biochim Biophys Acta 1553: 117-
122.
[204] Salvesen GS, Dixit VM (1997) Caspases: intracellular signaling by
proteolysis. Cell 91: 443-446.
[205] Salviati L, Hernandez-Rosa E, Walker WF, Sacconi S, DiMauro S,
et al. (2002) Copper supplementation restores cytochrome c oxidase
References
Aijaz Ahmad Wani, PhD thesis, 2007 155
activity in cultured cells from patients with SCO2 mutations.
Biochem J 363: 321-327.
[206] Sarzi E, Brown MD, Lebon S, Chretien D, Munnich A, et al. (2007)
A novel recurrent mitochondrial DNA mutation in ND3 gene is
associated with isolated complex I deficiency causing Leigh
syndrome and dystonia. Am J Med Genet A 143: 33-41.
[207] Sarzi E, Brown MD, Lebon S, Chretien D, Munnich A, et al. (2007)
A novel recurrent mitochondrial DNA mutation in ND3 gene is
associated with isolated complex I deficiency causing Leigh
syndrome and dystonia. Am J Med Genet A 143: 33-41.
[208] Scaglia F, Towbin JA, Craigen WJ, Belmont JW, Smith EO, et al.
(2004) Clinical spectrum, morbidity, and mortality in 113 pediatric
patients with mitochondrial disease. Pediatrics 114: 925-931.
[209] Schafer E, Seelert H, Rifschneider NH, Krause F, Dencher NA, et
al. (2006) Architecture of active mammalian respiratory chain
supercomplexes. J Biol Chem 281: 15370-15375.
[210] Schagger H (2002) Respiratory chain supercomplexes of
mitochondria and bacteria. Biochim Biophys Acta 1555: 154-159.
[211] Schagger H, Pfeiffer K (2000) Supercomplexes in the respiratory
chains of yeast and mammalian mitochondria. EMBO J 19: 1777-
1783.
[212] Schagger H, Pfeiffer K (2001) The ratio of oxidative phosphorylation
complexes I-V in bovine heart mitochondria and the composition of
respiratory chain supercomplexes. J Biol Chem 276: 37861-37867
[213] Schapira AH (2006) Mitochondrial disease. Lancet 368: 70-82.
[214] Schapira AHV, Cock HR (1999) Mitochondrial myopathies and
encephalomyopathies. Eur J Clin Invest 29: 886-898.
[215] Schuelke M, Smeitink J, Mariman E, Loeffen J, Plecko B, et al.
(1999) Mutant NDUFV1 subunit of mitochondrial complex I causes
leukodystrophy and myoclonic epilepsy. Nat Genet 21: 260-261.
156
[216] Schultz BE, Chan SI (2001) Structures and Proton-Pumping
Strategies of Mitochondrial Respiratory Enzymes. Annu Rev
Biophys Biomol Struct 30: 23-65
[217] Schwartz M, Vissing J (2002) Paternal inheritance of mitochondrial
DNA. N Engl J Med 347:576-580.
[218] Seo BB, Kitajima-Ihara T, Chan EK, Scheffler IE, Matsuno-Yagi A,
et al. (1998) Molecular remedy of complex I defects: rotenone-
insensitive internal NADH-quinone oxidoreductase of
Saccharomyces cerevisiae mitochondria restores the NADH oxidase
activity of complex I-deficient mammalian cells. Proc Natl Acad
Sci, USA 95: 9167-9171
[219] Sgarbi G, Baracca A, Lenaz G, Valentino LM, Carelli V, et al. (2006)
Inefficient coupling between proton transport and ATP synthesis
may be the pathogenic mechanism for NARP and Leigh syndrome
resulting from the T8993G mutation in mtDNA. Biochem J 395:
493-500.
[220] Shi MM, Kugelman A, Iwamoto T, Tian L, Forman HJ (1994)
Quinone-induced oxidative stress elevates glutathione and induces
c-glutamylcysteine synthetase activity in rat lung epithelial L2
cells. J Biol Chem 269: 26512-26517.
[221] Shigenaga MK, Hagen TM, Ames BN (1994) Oxidative damage and
mitochondrial decay in aging. Proc Natl Acad Sci, USA 91: 10771-
10778.
[222] Shoffner JM, Bialer MG, Pavlakis SG, Lott M, Kaufman A, et al.
(1995) Mitochondrial encephalomyopathy associated with a single
nucleotide pair deletion in the mitochondrial tRNALeu (UUR) gene.
Neurology 45: 286-292.
[223] Shoffner JM, Lott MT, Lezza AM, Seibel P, Ballinger SW, et al.
(1990) Myoclonic epilepsy and ragged-red fiber disease (MERRF) is
associated with a mitochondrial DNA tRNA(Lys) mutation. Cell 61:
931-997.
References
Aijaz Ahmad Wani, PhD thesis, 2007 157
[224] Shoubridge EA (2001) Cytochrome c oxidase deficiency. Am J Med
Genet 106: 46-52.
[225] Shoubridge EA (2003) Identification and characterization of a
common set of complex I assembly intermediates in mitochondria
from patients with complex I deficiency. J Biol Chem 278: 43081-
43088.
[226] Silvestri G, Ciafaloni E, Santorelli FM, Shanske S, Servidei S, et al.
(1993) Clinical features associated with the A to G transition at
nucleotide 8344 of mtDNA ("MERRF mutation"). Neurology 43:
1200-1206.
[227] Simon DK, Johns DR (1999) Mitochondrial disorders: clinical and
genetic features. Annu Rev Med 50: 111-127.
[228] Simon DK, Johns DR. (1999) Mitochondrial disorders: Clinical and
genetic features. Annu Rev Med 50: 111-127.
[229] Smeitink J, van den Heuvel L, DiMauro S (2001) The genetics and
pathology of oxidative phosphorylation. Nat Rev Genet 2: 342-352.
[230] Sparaco M, Bonilla E, DiMauro S, Powers JM (1993)
Neuropathology of mitochondrial encephalomyopathies due to
mitochondrial DNA defects. J Neuropathol Exp Neurol 52: 1-10.
[231] Spelbrink JN, Li FY, Tiranti V, Nikali K, Yuan QP, et al. (2001)
Human mitochondrial DNA deletions associated with mutations in
the gene encoding Twinkle, a phage T7 gene 4-like protein localized
in mitochondria. Nat Genet 28: 223-231.
[232] St John J, Sakkas D, Dimitriadi K, Barnes A, Maclin V, et al. (2000)
Failure of elimination of paternal mitochondrial DNA in abnormal
embryos. Lancet 355: 200.
[233] Stacpoole PW (1989) The pharmacology of dichloroacetate.
Metabolism 38: 1124-1144
[234] Stanley PE, Williams SG (1969) Use of the liquid scintillation
spectrometer for determining adenosine triphosphate by the
luciferase enzyme. Anal Biochem 29: 381-392.
158
[235] Sue CM, Bruno C, Andreu AL, Cargan A, Mendell JR, et al. (1999)
Infantile encephalopathy associated with the MELAS A3243G
mutation. J Pediatr 134: 696-700.
[236] Sutovsky P, Moreno RD, Ramalho-Santos J, Dominko T, Simerly C,
et al. (2000) Ubiquitinated sperm mitochondria, selective
proteolysis, and the regulation of mitochondrial inheritance in
mammalian embryos. Biol Reprod 63: 582-590.
[237] Sutovsky P, Moreno RD, Ramalho-Santos J, Dominko T, Simerly C,
et al. (1999) Ubiquitin tag for sperm mitochondria. Nature 402:
371-372.
[238] Sutovsky P, Van Leyen K, McCauley T, Day BN, Sutovsky M (2004)
Degradation of paternal mitochondria after fertilization:
implications for heteroplasmy, assisted reproductive technologies
and mtDNA inheritance. Reprod Biomed Online 8: 24-33.
[239] Suzuki H, Kumagai T, Goto A, Sugiura T (1998) Increase in
intracellular hydrogen peroxide and upregulation of nuclear
respiratory gene evoked by impairment of mitochondrial electron
transfer in human cells. Biochem Biophys Res Commun 249: 542-
545.
[240] Tanaka M, Borgeld HJ, Zhang J, Muramatsu S, Gong JS, et al.
(2002) Gene therapy for mitochondrial disease by delivering
restriction endonuclease SmaI into mitochondria. J Biomed Sci 9:
534-541.
[241] Tatuch Y, Christodoulou J, Feigenbaum A, Clarke JT, Wherret J, et
al. (1992) Heteroplasmic mtDNA mutation (T-G) at 8993 can cause
Leigh disease when the percentage of abnormal mtDNA is high. Am
J Hum Genet 50: 852-858.
[242] Taylor RW, Chinnery PF, Turnbull DM, Lightowlers RN (1997)
Selective inhibition of mutant human mitochondrial DNA
replication in vitro by peptide nucleic acids. Nat Genet 15: 212-215
[243] Taylor RW, Giordano C, Davidson MM, d'Amati G, Bain H, et al.
(2003) A homoplasmic mitochondrial transfer ribonucleic acid
References
Aijaz Ahmad Wani, PhD thesis, 2007 159
mutation as a cause of maternally inherited hypertrophic
cardiomyopathy. J Am Coll Cardiol 41: 1786-1796.
[244] Taylor RW, McDonnell MT, Blakely EL, Chinnery PF, Taylor GA, et
al. (2003) Genotypes from patients indicate no paternal
mitochondrial DNA contribution. Ann Neurol 54: 521-524.
[245] Taylor RW, Turnbull DM (1997) Laboratory diagnosis of
mitochondrial disease. Organelle diseases, chapman and Hall
London 341-350
[246] Tein I, DiMauro S, Xie ZW, De Vivo DC (1993) Valproic acid impairs
carnitine uptake in cultured human skin fibroblasts. An in vitro
model for pathogenesis of valproic acid-associated carnitine
deficiency. Pediatr Res 34: 281-287
[247] Thorburn DR, Sugiana C, Salemi R, Kirby DM, Worgan L, et al.
(2004) Biochemical and molecular diagnosis of mitochondrial
respiratory chain disorders. Biochim Biophys Acta 1659: 121-128.
[248] Tian L, Shi MM, Forman HJ (1997) Increased transcription of the
regulatory subunit of gamma-glutamylcysteine synthetase in rat
lung epithelial L2 cells exposed to oxidative stress or glutathione
depletion. Arch Biochem Biophys 342: 126-133.
[249] Triepels R, Smeitink J, Loeffen J, Smeets R, Trijbels F, et al. (2000)
Characterization of the human complex I NDUFB7 and 17.2-kDa
cDNAs and mutational analysis of 19 genes of the HP fraction in
complex I-deficient-patients. Hum Genet 106: 385-391.
[250] Triepels RH, Hanson BJ, van den Heuvel LP, Sundell L, Marusich
MF, et al. (2001b) Human complex I defects can be resolved by
monoclonal antibody analysis into distinct subunit assembly
patterns. J Biol Chem 276: 8892-8897.
[251] Triepels RH, van den Heuvel LP, Trijbels JM, Smeitink JA (2001a)
Respiratory chain complex I deficiency. Am J Med Genet 106: 37-
45.
[252] Trounce IA, Kim YL, Jun AS, Wallace DC (1996) Assessment of
mitochondrial oxidative phosphorylation in patient muscle biopsies,
160
lymphoblasts and transmitochondrial cell lines. Methods Enzymol
264: 484-509.
[253] Turrens JF (1997) Superoxide production by the mitochondrial
respiratory chain. Biosci Rep 17: 3-8.
[254] Turrens JF (2003) Mitochondrial formation of reactive oxygen
species. J Physiol 552: 335-344
[255] Turrens JF, Alexandre A, Lehninger AL (1985) Ubisemiquinone is
the electron donor for superoxide formation by complex III of heart
mitochondria. Arch Biochem Biophys 237: 408-414.
[256] Turrens JF, Boveris A (1980) Generation of superoxide anion by the
NADH dehydrogenase of bovine heart mitochondria. Biochem J
191: 421-427.
[257] Tyynismaa H, Sembongi H, Bokori-Brown M, Granycome C, Ashley
N, et al. (2004) Twinkle helicase is essential for mtDNA
maintenance and regulates mtDNA copy number. Hum Mol Genet
13: 3219-3227.
[258] Umaki Y, Mitsui T, Endo I, Akaike M, Matsumoto T (2002)
Apoptosis-related changes in skeletal muscles of patients with
mitochondrial diseases. Acta Neuropathol 103: 163-170.
[259] Uusimaa J, Finnila S, Remes AM, Rantala H, Vainionpaa L, et al.
(2004) Molecular epidemiology of childhood mitochondrial
encephalomyopathies in a Finnish population: sequence analysis of
entire mtDNA of 17 children reveals heteroplasmic mutations in
tRNAArg, tRNAGlu, and tRNALeu(UUR) genes. Pediatrics 114:
443-450.
[260] Valentino ML, Barboni P, Ghelli A, Bucchi L, Rengo C, et al. (2004)
The ND1 gene of complex I is a mutational hot spot for Leber's
hereditary optic neuropathy. Ann Neurol 56: 631-641.
[261] Van Coster R, Smet J, George E, De Meirleir L, Seneca S, et al.
(2001) Blue native polyacrylamide gel electrophoresis: a powerful
tool in diagnosis of oxidative phosphorylation defects. Pediatr Res
50: 658-665.
References
Aijaz Ahmad Wani, PhD thesis, 2007 161
[262] van den Heuvel L, Ruitenbeek W, Smeets R, Gelman-Kohan Z,
Elpeleg O, et al. (1998) Demonstration of a new pathogenic
mutation in human complex I deficiency: a 5-bp duplication in the
nuclear gene encoding the 18-kD (AQDQ) subunit. Am J Hum
Genet 62: 262-268.
[263] van Erven PM, Cillessen JP, Eekhoff EM, Gabreels FJ, Doesburg
WH, et al. (1987) Leigh syndrome, a mitochondrial
encephalo(myo)pathy. A review of the literature. Clin Neurol
Neurosurg 89: 217-230.
[264] Vergani L, Florean M, Russell A, Ceccon M, Napoli E, et al. (2004)
Antioxidant defences and homeostasis of reactive oxygen species in
different human mitochondrial DNA-depleted cell lines. Eur J
Biochem 271: 3646-3656.
[265] Visapaa I, Fellman V, Vesa J, Dasvarma A, Hutton JL, et al. (2002)
GRACILE syndrome, a lethal metabolic disorder with iron overload,
is caused by a point mutation in BCS1L. Am J Hum Genet 71: 863-
876.
[266] Vives-Bauza C, Gonzalo R, Manfredi G, Garcia-Arumi E, Andreu
AL (2006) Enhanced ROS production and antioxidant defenses in
cybrids harbouring mutations in mtDNA. Neurosci Lett 391: 136-
141.
[267] Wallace DC (1999) Mitochondrial disease in man and mouse.
Science 283: 1482-1488.
[268] Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, et al. (1988)
Mitochondrial DNA mutation associated with Leber's hereditary
optic neuropathy. Science 242: 1427-1430.
[269] Wani AA, Ahanger SH, Bapat SA, Rangrez AY, Hingankar N, et al.
(2007) Analysis of mitochondrial DNA sequences in childhood
encephalomyopathies reveals new disease-associated variants.
PLoS ONE 2: e942.
162
[270] Wei YH, Lu CY, Wei CY, Ma YS, Lee HC (2001) Oxidative stress in
human aging and mitochondrial disease-consequences of defective
mitochondrial respiration and impaired antioxidant enzyme system.
Chin J Physiol 44: 1-11.
[271] Weiss H, Friedrich T, Hofhaus G, Preis D (1991) The respiratory
chain NADH dehydrogenase (complex I) of mitochondria. Eur J
Biochem 197: 563-576.
[272] White E (1996) Life, death, and the pursuit of apoptosis. Genes Dev
10: 1-15.
[273] Wiesner RJ, Ruegg JC, Morano I (1992) "Counting target molecules
by exponential polymerase chain reaction, copy number of
mitochondrial DNA in rat tissues". Biochim Biophys Acta 183:
553-559.
[274] Wolf NI, Smeitink JAM (2002) Mitochondrial disorders. Neurology
59: 1402-1405.
[275] Wolvetang EJ, Johnson KL, Krauer K, Ralph SJ, Linnane AW
(1994) Mitochondrial respiratory chain inhibitors induce apoptosis.
FEBS Lett 339: 40-44
[276] Wong A, Cavelier L, Collins-Schramm HE, Seldin MF, McGrogan
M, et al. (2002) Differentiation-specific effects of LHON mutations
introduced into neuronal NT2 cells. Hum Mol Genet 11: 431-438.
[277] Zamzami N, Marchetti P, Castedo M, Decaudin D, Macho A, et al.
(1995) Sequential reduction of mitochondrial transmembrane
potential and generation of reactive oxygen species in early
programmed cell death. Exp Med 182: 367-377.
[278] Zanna C, Ghelli A, Porcelli AM, Carelli V, Martinuzzi A, et al.
(2003) Apoptotic cell death of cybrid cells bearing Leber's hereditary
optic neuropathy mutations is caspase independent. Ann N Y Acad
Sci 1010: 213-217.
[279] Zanna C, Ghelli A, Porcelli AM, Martinuzzi A, Carelli V, et al.
(2005) Caspase-independent death of Leber's hereditary optic
References
Aijaz Ahmad Wani, PhD thesis, 2007 163
neuropathy cybrids is driven by energetic failure and mediated by
AIF and Endonuclease G. Apoptosis 10: 997-1007.
[280] Zeman J, Houaekov H, Dudkov Z, Stratilov L, Hanskov H, et al.
(1998) Sodium dichloroacetate treatment of children with
mitochondrial encephalomyopathies. Med Sci Monit 4: 436-442
[281] Zeviani M (2001) The expanding spectrum of nuclear gene
mutations in mitochondrial disorders. Semin Cell Dev Biol 12:
407-416.
[282] Zeviani M, Di Donato S (2004) Mitochondrial disorders. Brain 127:
2153-2172.
[283] Zeviani M, Servidei S, Gellers C, Bertini E, DiMauro S, et al. (1989)
An autosomal dominant disorder with multiple deletions of
mitochondrial DNA starting at the D-loop region. Nature 339: 309-
311.
[284] Zeviani M, Spinazzola A, Carelli V (2003) Nuclear genes in
mitochondrial disorders. Curr Opin Genet Dev 13: 262-270
[285] Zhadanov SI, Atamanov VV, Zhadanov NI, Oleinikov OV, Osipova
LP, et al. (2005) A novel mtDNA ND6 gene mutation associated
with LHON in a Caucasian family. Biochem Biophys Res
Commun 15: 1115-1121.
[286] Zhivotovsky B, Hanson KP, Orrenius S (1998) Back to the future:
the role of cytochrome c in cell death. Cell Death Differ 5: 459-460.
