Structural variants in SNCA gene and the implication to synucleinopathies.


Journal Article (Review)

Synucleinopathies are a group of neurodegenerative diseases that share a common pathological lesion of intracellular protein inclusions largely composed of aggregates of alpha-synuclein protein. Accumulating evidence, including genome-wide association studies, has implicated the alpha-synuclein (SNCA) gene in the etiology of synucleinopathies and it has been suggested that SNCA expression levels are critical for the development of these diseases. This review focuses on genetic variants from the class of structural variants (SVs), including multiplication of large genomic segments and short (<50bp) genomic variants such as simple sequence repeats (SSRs), within the SNCA locus. We provide evidence that SNCA-SVs play a key role in the pathogenesis of synucleinopathies via their effects on gene expression and on regulatory mechanisms including transcription and splicing.

Full Text

Duke Authors

Cited Authors

  • Chiba-Falek, O

Published Date

  • June 2017

Published In

Volume / Issue

  • 44 /

Start / End Page

  • 110 - 116

PubMed ID

  • 28319736

Pubmed Central ID

  • 28319736

Electronic International Standard Serial Number (EISSN)

  • 1879-0380

Digital Object Identifier (DOI)

  • 10.1016/j.gde.2017.01.014


  • eng

Conference Location

  • England