5-hydroxymethylcytosine (5hmC) is a substance found in many cells and particularly in the brain cells. Although there is much that remains unknown about it, it has been receiving a lot of attention from researchers because of its apparent pole in epigenetics. Epigenetics refers to the process by which gene expression is modified by non-genetic factors, such as external environmental influences. For example, our DNA may determine the likelihood that we we will develop high blood pressure later in life, but this can be modified by a lack of an adequate diet in childhood or even our during our mother’s pregnancy. Our DNA is not altered but some genes may be “turned up” and others “turned down” by our other factors. Exactly how these processes work is currently a major research area for many researchers, and some researchers believe that 5hmC may be an important piece of the puzzle.
MeCP2 is another substance that appears to play an important role in epigenetics. Research on MECP2 is important not only for a better understanding of Rett syndrome and MECP2 duplication syndrome, it is also important for a better understanding of normal physiological function. This is important, because Rett and MECP2 duplication syndromes are relative rare conditions, that might have difficulty attracting much research interest or much research funding. The fact that MECP2 research has the potential to move our basic understanding of epigenetic and might have a role in treating a much larger group of conditions, plays an important role in attracting research interest and research dollars.
Now, a new study published in Cell, a scientific journal focusing on molecular biology, appears to tie together research on 5hmC and MeCP2. There is a good summary of this research by Kelly Rae Chi on the Rett Syndrome Research Trust website. While the long-term influence of this study is hard to predict at this time, it has the potential to attract more research interest into the MECP2 gene and to be a step toward a better understanding of Rett syndrome and MECP2 duplication syndrome and might even be a first step toward identifying possible treatments.
There is also a great 8 minute audio clip of an interview with the researcher in fairly plain and understandable English.
To listen go to http://www.cell.com/
Go down the page to the section on “MeCP2 and 5hmC: A Cell-Type-Specific Epigenetic Code” and the play the “Paper Clip” audio
This research may help understand how MECP2 can up-regulate some functions and down-regulate others, by binding to both 5mC and 5hmC, if binding to one causes up-regulation and to the other causes down-regulation.