biotech
Sirolimus (Rapamune) May Treat Genetic Disease Tuberous Sclerosis
Filed in archive Drugs, Vaccines and Therapeutics , Genomics, Proteomics and Bioinformatics , Microbiology by ruth on January 14, 2008
Sirolimus (Rapamune) May Treat Genetic Disease Tuberous Sclerosis
Preliminary data indicates that Sirolimus (trade name: Rapamune), a macrolide compoundisolated from the bacterium Streptomyces hygroscopicus in a soil sample collected from easter island, may have potentials in treating tuberous sclerosis, a rare genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. The disease previously been linked to two genes: TSC1 and TSC2.
The Institute is now leading a UK-wide study on a new treatment involving the drug Sirolimus. This was first identified from a soil sample taken from Easter Island and has been shown in the past to control the activity of a protein, mTOR, which is normally controlled by the TSC1 and TSC2 genes. If the genes fail, mTOR is too active leading to tuberous sclerosis.

The UK study tested the effects of Sirolimus on kidney tumours in patients with tuberous sclerosis and a related condition, LAM, a lung and kidney disease affecting young women. The study is at the half-way stage but after one year of treatment the diameters of the tumours have shrunk by an average of 26 per cent. A parallel study in the United States has also reported similar results.

The results of the two studies are published in The New England Journal of Medicine.

Source
Image: Earliest illustration of tuberous sclerosis, from Rayer's atlas of skin diseases, 1835.

Permalink: Sirolimus (Rapamune) May Treat Genetic Disease Tuberous Sclerosis
Tags: macrolide  sirolimus  rapamune  genetics  genetic+disease  genetic  tuberous+sclerosis  sirolimus+rapamune 
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