Epigenetic modifications control gene expression, but scientists still don’t know if or how they contribute to disease. To address this knowledge gap, the National Institutes of Health launched the Roadmap Epigenomics Project in 2008 to compare epigenomes in healthy and diseased cells. In the August 17 Nature Neuroscience, two papers from separate but collaborative research groups report on some of the fruits of that effort. Both groups surveyed DNA methylation in hundreds of human AD and control brains and identified several regions where changes in this epigenetic mark correlated with the amount of Alzheimer’s pathology. The results may help flag genes that are turned up or down in AD, and provide insight into pathogenesis, said Philip De Jager at Brigham and Women’s Hospital, Boston, the first author of one of the papers. Some of this data was previously presented at the 2012 Society for Neuroscience conference (see Nov 2012 conference story).
“For perhaps the first time, our papers find robust evidence for epigenetic changes in the brains of people with AD,” said Jonathan Mill at King’s College London, who led the other study. Notably, the two groups obtained largely overlapping sets of genes, although they used different cohorts and methods. De Jager told Alzforum, “To my understanding, this is the first time that two independent epigenetic studies have cross-replicated each other. It validates this approach to studying Alzheimer’s and brain diseases in general.”
Read more at AlzForum.