The distinct methylation landscape of maturing neurons and its role in Rett syndrome pathogenesis.
The distinct methylation landscape of maturing neurons and its role in Rett syndrome pathogenesis.
Curr Opin Neurobiol. 2019 Sep 19;59:180-188
Authors: Lavery LA, Zoghbi HY
Abstract
Rett syndrome (RTT) is one of the most common causes of intellectual and developmental disabilities in girls, and is caused by mutations in the gene encoding methyl-CpG binding protein 2 (MECP2). Here we will review our current understanding of RTT, the landscape of pathogenic mutations and function of MeCP2, and culminate with recent advances elucidating the distinct DNA methylation landscape in the brain that may explain why disease symptoms are delayed and selective to the nervous system.
PMID: 31542590 [PubMed - as supplied by publisher]
Source: Current Opinion in Neurobiology - Category: Neurology Authors: Lavery LA, Zoghbi HY Tags: Curr Opin Neurobiol Source Type: research
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