Methylation regulates alpha-synuclein expression and is decreased in Parkinson's disease patients' brains

J Neurosci. 2010 May 5;30(18):6355-9. doi: 10.1523/JNEUROSCI.6119-09.2010.

Abstract

Alpha-synuclein (SNCA) is a major risk gene for Parkinson's disease (PD), and increased SNCA gene dosage results in a parkinsonian syndrome in affected families. We found that methylation of human SNCA intron 1 decreased gene expression, while inhibition of DNA methylation activated SNCA expression. Methylation of SNCA intron 1 was reduced in DNA from sporadic PD patients' substantia nigra, putamen, and cortex, pointing toward a yet unappreciated epigenetic regulation of SNCA expression in PD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Cerebral Cortex / metabolism*
  • DNA Methylation*
  • Epigenesis, Genetic
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Introns
  • Male
  • Parkinson Disease / genetics*
  • Parkinson Disease / metabolism
  • Putamen / metabolism*
  • Substantia Nigra / metabolism*
  • alpha-Synuclein / genetics*
  • alpha-Synuclein / metabolism

Substances

  • SNCA protein, human
  • alpha-Synuclein