Autosomal Dominant Optic Atrophy Type 1Britney Hopgood-Berdecia1, Wilnerys Colberg-Hernandez & Kamil Suliveres-Caraballo 2, Academia Sagrado Corazon1, Universidad Metropolitana2

• The objective of this research lies in studying the protein. To do this bioinformatics programs likeGeneDoc, FigTree, and MEME suite are going to be used to analyze the protein.

Autosomal Dominant Optic Atrophy type 1 (ADOA) is a progressive condition that normally

begins within the first decade of life. The severity of the vision loss can vary among affected

people; it can go from having nearly normal vision to being completely blind. The condition is

caused by a mutation in the OPA1 gene, the protein that this gene produces is found in the

mitochondria, and plays a big role in the maintenance of the mitochondrial DNA (mtDNA), if this

process does not occur the information from the eyes to the brain become disrupted. The

importance of this research lies in studying the protein. To do this bioinformatics programs like

GeneDoc, Meme Suite and FigTree were used to analyze the protein. The results in GeneDoc

show that there was from an 80-100% in the level of conservation, Meme Suite showed us the 3

important residues in the protein, FigTree shows there are 10 organisms with the same ancestor.

This tells us that the protein is well conserved and will help in further investigations of other

species with similar genetic sequences.

The results in GeneDoc show that there was from an 80-100% in the level ofconservation, Meme suite showed the important residues in the protein, FigTreeshows there are 10 organisms that share the same ancestor. This tells us that theprotein is well conserved and will help in further investigations of other specieswith similar genetic sequences.

• NSF• Juan F. Arratia• Wilnery Colberg• Kamil Suliveres

• Amati- Bonneau, P., D. Milea, and D. Bonneau. "OPA1-associated disorders: phenotypes and pathophysiology.." .http://www.ncbi.nlm.nih.gov/pubmed/19389487?dopt=Abstract (accessed March 1, 2014).

• "OPA1." - optic atrophy 1 (autosomal dominant). http://ghr.nlm.nih.gov/gene/OPA1 (accessed February 20,2014).1

• "Optic atrophy type 1." - Genetics Home Reference. http://ghr.nlm.nih.gov/condition/optic-atrophy-type-1(accessed May 10, 2014).2

• "Optic atrophy type 1." - Genetics Home Reference. http://ghr.nlm.nih.gov/condition/optic-atrophy-type-1#genes (accessed March 10, 2014).3

• Ronnback, C., D. Milea, and M. Larsen. "Result Filters." National Center for Biothecnology Information.http://www.ncbi.nlm.nih.gov/protein/NP_570845.1 (accessed March 10, 2014).

• Figure A: GeneDoc showed us that in the levels on conservation there were from an 80% to a 100%.

100%

80%

Abstract

Introduction

Objective

MethodologyConclusion

Results

References

Acknowledgments

•Optic Atrophy Type 1 is a condition that affects vision, it is a progressive condition that normally begins within the first decade of life. The severity of the vision loss may vary among affected people, even among members of their own family.The condition can range from having nearly normal vision to being completely blind; the vision loss usually progresses slowly. 1

•People with the condition normally have problems with color vision, which makes it difficult for them to discern between the colors blue and green. Problems associated with this condition also include a progressive narrowing of the field of vision (tunnel vision), also an abnormal pale appearance (pallor) of the nerve which relays the visual information from the eye to the brain (optic nerve). Optic nerve pallor can also be detected during an eye examination.2

•The condition is caused by a mutation in the OPA1 gene. The protein which this gene produces is found in the mitochondria; the protein plays a big role in the organization of the shape and the structure of the mitochondria and in the self-destruction of cells. The maintenance of the mtDNA is the vital process to decide if the information from the eyes to the brain will become disrupted, and lead to the mutation.3

• Figure C: FigTree showed that there are 10 organisms with the same ancestor.

• Figure B: MEME Suite showed us that there are 3 important

residues in the protein.

FIG TREE