Mutation Screening of the CHCHD2 Gene for Alzheimer's Disease and Frontotemporal Dementia in Chinese Mainland Population

J Alzheimers Dis. 2018;61(4):1283-1288. doi: 10.3233/JAD-170692.

Abstract

As an important multifunctional protein involved in regulation of mitochondrial metabolism, CHCHD2 was identified as a causative gene for Parkinson's disease (PD), yet the relationship between CHCHD2 and neurodegenerative dementia is not well understood. We directly sequenced the entire coding region of CHCHD2 gene in 150 AD patients, 84 FTD patients, and 417 controls. Four rare putative pathogenic variants of CHCHD2, including rs142444896 (c.5C>T, p.P2L), rs752705344 (c.15C>G, p.S5R), rs145190179 (c.94G>A, p.A32T), and rs182992574 (c.255T>A, p.S85R) were identified from a cohort composed of 150 AD and 84 FTD patients. These results suggest that CH CHD2 gene play an important role in other neurodegenerative disorders from our dementia study in China.

Keywords: Alzheimer’s disease; CHCHD2; dementia; frontotemporal dementia.

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Alzheimer Disease / genetics*
  • Asian People / genetics
  • Case-Control Studies
  • China
  • DNA-Binding Proteins
  • Female
  • Frontotemporal Dementia / genetics*
  • Genetic Association Studies
  • Humans
  • Male
  • Middle Aged
  • Mitochondrial Proteins / genetics*
  • Mutation
  • Transcription Factors / genetics*

Substances

  • CHCHD2 protein, human
  • DNA-Binding Proteins
  • Mitochondrial Proteins
  • Transcription Factors