Wednesday, June 9, 2010

Epigenetics in Action: Methylation profiling in medicine

One of the ultimate goals of genetic research is the eventual application of medicine and medical techniques resulting from advances in the basic sciences. One such aspect of this application involves the use of PCR methylation assays as a diagnostic for genetic disease. The study performed by PeƱaherrera et al. at the University of British Colombia looks into the feasibility of using a quantitative analysis of methylation levels on chromosome 7 as a means of diagnosing patients with the rare genetic disorder, Russell Silver Syndrome. Wikipedia defines Russell Silver Syndrome (RSS) as a type of dwarfism, effecting between 1 in 100,000 to 1 in 3,000 births. Its cause is unclear, but is believed to be a genetic defect, possibly due to an unnecessary X inactivation.

This case is a good example of the potential for epigenetics in medicine. While the genetic code is pretty much set in stone after cellular differentiation, epigenetic factors however, could be altered. Although this study only looks as methylation as a new medical diagnostic tool to screen for RSS, and admittedly there are still issues regarding consistency, it is exciting to see more practical applications for our understanding genetics.

As a personal note; while I am excited about the potential for epigenetics I feel that we are still a long way away from reaching what I feel is the holy grail of applied genetics, or in this case epigenetics, and that is the use of epigenetic techniques such as methylation, acetylation, etc. to cure diseases such as RSS. If we could somehow control epigenetic expression, we would have far more power over many inherent chronic diseases. As someone afflicted with tourette's Syndrome the field of epigenetic medicine is certainly appealing. Tourette's is believed to be an inherited disorder so there is little in the way of hope to cure it as the genetic level without epigenetic tools.

Citation: Penaherrera MS, Weindler S, Van Allen MI, Yong S-L, Metzger DL, McGillivray B, Boerkoel C, Langlois S, Robinson WP. 2010. Methylation profiling in individuals with Russell–Silver syndrome. Am J Med Genet Part A 152A:347–355.

No comments:

Post a Comment