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Multi system genetic disorder. Multiple organ tumors in Brain, kidneys and skin. According to the National Institute of Neurological Disorders and Stroke (NINDS),Tuberous sclerosis affects about 1 in 6,000 newborns. As many as 25,000 to 45,000 people in the United States and 1-2 million people worldwide have the disorder.

Tuberous SClerosis

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A presentation on Tuberous Sclerosis and an innovative methodology to cure it.

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Page 1: Tuberous SClerosis

Multi system genetic disorder. Multiple organ tumors in Brain,

kidneys and skin. According to the National

Institute of Neurological Disorders and Stroke (NINDS),Tuberous sclerosis affects about 1 in 6,000 newborns.

As many as 25,000 to 45,000 people in the United States and 1-2 million people worldwide have the disorder.

Page 2: Tuberous SClerosis

Symptoms include:SeizuresDevelopmental DelaySkin abnormalitiesDiseases in lungs, kidneysAutismBenign tumors in the organs.

Seizures: 70%Learning disability, Autism etc. : 40%Eyes: Almost 50%Kidneys : 80%Heart: 50-60% [tumor called rhabdomyomas]

Page 3: Tuberous SClerosis

Tumor Suppressor Genes:TSC1 [Tuberous sclerosis Complex 1]TSC 2[Tuberous Sclerosis Complex 2]

These genes usually are activated when there is a tumorous growth.

Act as a complex suppressing the tumor growth by acting on mTOR.

Code for proteins that repress cell cycle or even induce apoptosis.

TSC1 codes for a 130 kDa protein called

“hamartin” and TSC2 codes for the 200 kDa protein known as “tuberin”.

Page 4: Tuberous SClerosis

Mammalian Target Of Rapamycin : mTORSerine/Threonine Protein

KinaseRegulates Growth

Proliferation, motility, survival of cell

Controls protein synthesis and transcription.

Page 5: Tuberous SClerosis

TSC1 and TSC2 suppress mTOR regulation in healthy conditions.

‘When TSC genes mutated, mTOR gets hyperactive’

Page 6: Tuberous SClerosis

None!Rapamycin drug used

to suppress the hyperactivity of mTOR. Successful to certain extent.

No other drugs in market.

Operation to remove the excess tissue.

Page 7: Tuberous SClerosis

Nanotechnology: Used to make nano size robots. Created a viral robot called K-Bot. Equipped with sensors and a motor inspired by E.coli Has a mini CPU which stores information about DNA sequences and also transmits signals totarget molecules and is controlled by mainframe in the lab.

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Administered along with the viruses containing the healthy TSC genes – K-Virus

-K-Virus acts like Gene therapy!-K-Bot attaches to the cell and “tower” protrudes into the nucleus interacting with DNA.-Identifies the TSC gene [mutated sequence- compares with the database]-Cleaves and activates DNA Pol and ligase.-Reconstructs DNA. Moves onto other cell.

Page 9: Tuberous SClerosis