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<ul><li>Multi system genetic disorder. </li></ul><ul><li>Multiple organ tumors in Brain, kidneys and skin.  </li></ul><ul>...
<ul><li>Symptoms include: </li></ul><ul><ul><li>Seizures </li></ul></ul><ul><ul><li>Developmental Delay </li></ul></ul><ul...
<ul><li>Tumor Suppressor Genes: </li></ul><ul><ul><li>TSC1 [Tuberous sclerosis Complex 1] </li></ul></ul><ul><ul><li>TSC 2...
<ul><li>Mammalian Target Of Rapamycin : mTOR </li></ul><ul><ul><li>Serine/Threonine Protein Kinase </li></ul></ul><ul><ul>...
<ul><li>TSC1 and TSC2 suppress mTOR regulation in healthy conditions. </li></ul><ul><li>‘ When TSC genes mutated, mTOR get...
<ul><li>None! </li></ul><ul><li>Rapamycin drug used to suppress the hyperactivity of mTOR. Successful to certain extent. <...
<ul><li>Nanotechnology: </li></ul><ul><ul><li>Used to make nano size robots. </li></ul></ul><ul><ul><li>Created a viral ro...
<ul><li>Administered along with the viruses containing the healthy TSC genes – K-Virus  </li></ul>-K-Virus acts like Gene ...
 
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Tuberous SClerosis

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

Published in: Health & Medicine
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Tuberous SClerosis

  1. 1. <ul><li>Multi system genetic disorder. </li></ul><ul><li>Multiple organ tumors in Brain, kidneys and skin. </li></ul><ul><li>According to the National Institute of Neurological Disorders and Stroke (NINDS),Tuberous sclerosis affects about 1 in 6,000 newborns. </li></ul><ul><li>As many as 25,000 to 45,000 people in the United States and 1-2 million people worldwide have the disorder. </li></ul>
  2. 2. <ul><li>Symptoms include: </li></ul><ul><ul><li>Seizures </li></ul></ul><ul><ul><li>Developmental Delay </li></ul></ul><ul><ul><li>Skin abnormalities </li></ul></ul><ul><ul><li>Diseases in lungs, kidneys </li></ul></ul><ul><ul><li>Autism </li></ul></ul><ul><ul><li>Benign tumors in the organs. </li></ul></ul><ul><li>Seizures: 70% </li></ul><ul><li>Learning disability, Autism etc. : 40% </li></ul><ul><li>Eyes: Almost 50% </li></ul><ul><li>Kidneys : 80% </li></ul><ul><li>Heart: 50-60% [tumor called rhabdomyomas] </li></ul>
  3. 3. <ul><li>Tumor Suppressor Genes: </li></ul><ul><ul><li>TSC1 [Tuberous sclerosis Complex 1] </li></ul></ul><ul><ul><li>TSC 2[Tuberous Sclerosis Complex 2] </li></ul></ul><ul><ul><ul><li>These genes usually are activated when there is a tumorous growth. </li></ul></ul></ul><ul><ul><ul><li>Act as a complex suppressing the tumor growth by acting on mTOR. </li></ul></ul></ul><ul><ul><ul><li>Code for proteins that repress cell cycle or even induce apoptosis. </li></ul></ul></ul><ul><li>TSC1 codes for a 130 kDa protein called “ hamartin ” and TSC2 codes for the 200 kDa protein known as “ tuberin ”. </li></ul>
  4. 4. <ul><li>Mammalian Target Of Rapamycin : mTOR </li></ul><ul><ul><li>Serine/Threonine Protein Kinase </li></ul></ul><ul><ul><li>Regulates Growth Proliferation, motility, survival of cell </li></ul></ul><ul><ul><li>Controls protein synthesis and transcription. </li></ul></ul>
  5. 5. <ul><li>TSC1 and TSC2 suppress mTOR regulation in healthy conditions. </li></ul><ul><li>‘ When TSC genes mutated, mTOR gets hyperactive’ </li></ul>
  6. 6. <ul><li>None! </li></ul><ul><li>Rapamycin drug used to suppress the hyperactivity of mTOR. Successful to certain extent. </li></ul><ul><li>No other drugs in market. </li></ul><ul><li>Operation to remove the excess tissue. </li></ul>
  7. 7. <ul><li>Nanotechnology: </li></ul><ul><ul><li>Used to make nano size robots. </li></ul></ul><ul><ul><li>Created a viral robot called K-Bot. </li></ul></ul><ul><ul><li>Equipped with sensors and a motor inspired by E.coli </li></ul></ul><ul><ul><li>Has a mini CPU which stores information about DNA sequences </li></ul></ul><ul><ul><li>and also transmits signals totarget molecules and is controlled </li></ul></ul><ul><ul><li>by mainframe in the lab. </li></ul></ul>
  8. 8. <ul><li>Administered along with the viruses containing the healthy TSC genes – K-Virus </li></ul>-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.

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