C9orf72 promoter hypermethylation is neuroprotective

McMillan CT, Russ J, Wood EM, Irwin DJ, Grossman M, McCluskey L, Elman L, Van Deerlin V, Lee EB. Neurology. 2015 March 20 ( ePub ahead of print) | doi: 10.1212/WNL.0000000000001495


Penn Medicine researchers have discovered that hypermethylation—the epigenetic ability to turn down or turn off a bad gene implicated in 10 to 30 percent of patients with Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Degeneration (FTD)—serves as a protective barrier inhibiting the development of these diseases. Their work, published this month in Neurology, may suggest a neuroprotective target for drug discovery efforts.
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