Long Gene Expression

flaskGabel, H. W., Kinde, B., Stroud, H., Gilbert, C. S., Harmin, D. A., Kastan, N. R., et al. (2015). Disruption of DNA-methylation-dependent long gene repression in Rett syndrome. Nature. doi: 10.1038/nature14319

This new study may accelerate research on finding useful treatments for treating both Rett syndrome and MECP2 Duplication syndrome. It has been well-established that the MECP2 gene plays an important role in promoting the expression of some genes and inhibiting the expression of others. Now researchers have found that while it affects many genes, it has a greater impact on long gene expression.

In Rett syndrome these long genes are overexpressed and in MECP2 duplication syndrome, they are underexpressed. These genes play an important part in brain function and likely in other physiological functions, too. Interestingly, about 50 genes have previously been linked to autism and these are among this group of long genes.

This may be an important finding, although there is some reason for caution. While this finding appears to be clear, it does not mean that this is the ONLY or even the MOST IMPORTANT role that MECP2 plays. That remains to be seen, but it does appear to be an important role for MECP2.

This has the potential to advance research toward another treatment strategy. For MECP2 Duplication, it may mean that even if the gene can’t be inhibited, and the protein it produces blocked, there may be other drugs that can help increase long-gene expression. Perhaps some of these drugs might already exist.

Whether or not this finding turns out to be a real game changer remains to be seen, but it could turn out to be a step forward. Let’s hope so!

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