The distinct methylation landscape of maturing neurons and its role in Rett syndrome pathogenesis
| Autor: | Laura A. Lavery, Huda Y. Zoghbi |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Nervous system congenital hereditary and neonatal diseases and abnormalities Methyl-CpG-Binding Protein 2 Rett syndrome Disease Biology medicine.disease_cause Methylation Article MECP2 03 medical and health sciences 0302 clinical medicine Rett Syndrome medicine Humans Gene Neurons Mutation General Neuroscience Brain medicine.disease 030104 developmental biology medicine.anatomical_structure DNA methylation Female Neuroscience 030217 neurology & neurosurgery |
| Zdroj: | Curr Opin Neurobiol |
| ISSN: | 0959-4388 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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