Mutational analysis of COQ2 in patients with MSA in Italy

Neurobiol Aging. 2016 Sep:45:213.e1-213.e2. doi: 10.1016/j.neurobiolaging.2016.05.022. Epub 2016 Jun 7.

Abstract

COQ2 mutations have been implicated in the etiology of multiple system atrophy (MSA) in Japan. However, several genetic screenings have not confirmed the role of its variants in the disease. We performed COQ2 sequence analysis in 87 probable MSA. A homozygous change p.A43G was found in an MSA-C patient. Cosegregation analysis and the evaluation of CoQ10 content in muscle and fibroblasts did not support the pathogenic role of this variant.

Keywords: COQ2; CoQ10; MSA.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Alkyl and Aryl Transferases / genetics*
  • Cohort Studies
  • DNA Mutational Analysis*
  • Female
  • Genetic Association Studies*
  • Homozygote
  • Humans
  • Italy
  • Male
  • Middle Aged
  • Multiple System Atrophy / genetics*
  • Mutation / genetics*

Substances

  • Alkyl and Aryl Transferases
  • 4-hydroxybenzoate polyprenyltransferase