Over the past years our understanding of genes and proteins in organic cells has grown massively. It is because this knowledge it is now becoming an opportunity for us to, not only to learn what genes are associated to disorders or conditions, but to mend the damage these gene defects cause.
Lately, a new study has been showing promising results in correcting a deficiency in two genes in humans that have been shown to link to an inherited genetic disease known as Tuberous sclerosis. Tuberous sclerosis is a fairly rare, though severe disease that results from defects in the genes TSC1 and TSC2, which are thought to be implicated as tumor suppressors. As a result in this lapse in tumor suppressing genes Tuberous sclerosis is able to be formed and causes dangerous tumors to grow in the brain, kidneys, heart, skin, lungs and other vital organs.
TSC1 and TSC2 have been found to be important as they are genes that control and limit the growth of a protein known as mTOR. If these genes fail, mTOR becomes overactive and hence causes tumors. To counteract mTOR in a system where TSC1 and TSC2 are defective a drug has been discovered, known as Sirolimus. Sirolimus was first discovered as the product of a bacterium Streptomyces hygroscopicus in a soil sample taken from Easter Island and has been shown to have the effect of controlling the activity of mTOR.
To facilitate the use of Sirolimus a UK wide study is currently taking place using the newly found drug. While the testing is currently only mid way through the 2 year period of study, the results for the first year seem very promising. Diameters of tumors from all tested patients were reduced by an average of 26 percent. This information has been further supported by a sister study carried out in America that returned similar results.
In response to these results Professor Julian Sampson, director of the Institute of Medical Genetics, states, "This is a small-scale study and we will be treating patients for a further year before it is completed. However, what we have seen so far is very promising and already justifies progression to a larger study in many more patients. The findings offer new hope for what is a very serious and distressing genetic disease."
By Robert Begbie s4176523For further information please visit:
http://www.sciencedaily.com/releases/2008/01/080110085527.htm
and
http://content.nejm.org/cgi/content/full/358/2/190
