Different Effects of Valproic Acid on Photoreceptor Loss in Rd1 and Rd10 Retinal Degeneration Mice.

Different Effects of Valproic Acid on Photoreceptor Loss in Rd1 and Rd10 Retinal Degeneration Mice. in Molecular Vision.  http://www.molvis.org/molvis/v20/1527/

Using retinal degeneration mouse strains, this paper’s data demonstrate that the underlying etiology of the photoreceptor degeneration is important to determining the effects of Valproic Acid (VPA) on the rate of photoreceptor loss. Our results are very important, because off-label VPA clinical trials with Human RP patients are underway in the USA and South Korea. Thus, VPA might help some families, but not others, depending on the exact genetic mutation, and thus disease etiology, involved in their RP. Our study with mice would indicate that any clinical trials should make comparisons of VPA to placebo within RP patients who have the same disease etiology (same genetic mutation). Patients should also be monitored very closely to evaluate changes in the rate of visual field loss and visual acuity loss while taking VPA in such trials. Continue reading

Review Paper in the journal Heredity: Epigenetic regulatory mechanisms in vertebrate eye development and disease.

Epigenetic regulation is an additional layer of control on top of our actual raw genomic DNA sequence. Basically, this means that without actually changing or mutating the DNA sequence of a gene, it is possible for that gene to be expressed differently. This extra later of control is often through changing how the DNA is packaged away in chromatin. Chromatin refers to how our chromosomal DNA is really organized. That is, DNA wrapped around cores of nucleosome core proteins, called histone proteins. The cytosines in our DNA can be methylated (addition of methyl groups), and histone proteins can be acetylated (addition of acetyl groups), and these chemical modifications control how our chromatin is packed away in our cells. Tightly packed away, genes are dormant, off, away in the closet like winter clothes you are not using in summer time. Active genes, are out of storage, unpacked and ready to work. In this review paper Alex Cvekl, from the Albert Einstein College of Medicine (Bronx, NY) and I put together a detailed review on what we know so far about the roles of epigenetic regulation in vertebrate eye development and disease. Continue reading