Mutation analysis of CHCHD2 in Canadian patients with familial Parkinson's disease

Neurobiol Aging. 2016 Feb:38:217.e7-217.e8. doi: 10.1016/j.neurobiolaging.2015.10.038. Epub 2015 Nov 6.

Abstract

Recently, several CHCHD2 mutations were reported to be associated with autosomal dominant Parkinson's disease (PD) in a Japanese population. However, an association between CHCHD2 and PD was not observed in 2 Caucasian data sets. The present study searched for CHCHD2 coding variants in Canadian PD patients. Sanger sequencing of all CHCHD2 exons revealed no coding mutations in 155 familial cases. Moreover, 3 coding CHCHD2 polymorphisms available on the NeuroX array (Pro2Leu, Pro14Ser, and Ile118Met) were homozygous for the major allele in an additional 85 PD patients. Our study suggests that CHCHD2 mutations may not account for PD in Canadian patients.

Keywords: CHCHD2; Canadian; Mutation; Parkinson's disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Canada
  • DNA Mutational Analysis
  • DNA-Binding Proteins
  • Exons / genetics
  • Genetic Association Studies*
  • Humans
  • Mitochondrial Proteins / genetics*
  • Mutation*
  • Parkinson Disease / genetics*
  • Transcription Factors / genetics*

Substances

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