Evaluating the role of ARSA in Chinese patients with Parkinson's disease

Neurobiol Aging. 2022 Jan:109:269-272. doi: 10.1016/j.neurobiolaging.2021.08.008. Epub 2021 Aug 21.

Abstract

Recent studies have suggested ARSA, a gene responsible for metachromatic leukodystrophy, could be a genetic modifier of Parkinson's disease (PD) pathogenesis, acting as a molecular chaperone for α-synuclein. To elucidate the role of ARSA variants in PD, we did a comprehensive analysis of ARSA variants by performing next-generation sequencing on 477 PD families, 1440 sporadic early-onset PD patients and 1962 sporadic late-onset PD patients and 2636 controls from Chinese mainland, as well as the association between ARSA variants and cognitive function of PD patients. We identified 2 familial PD following autosomal dominant inherence carrying rare variants of ARSA, but they had limited clinical significance. We detected a total of 81 coding variants of ARSA in our subjects but none of the identified variants were associated with either susceptibility or cognitive performance of PD, while loss-of-function variants showed slightly increased burden in late-onset PD (0.25% vs. 0%, p = 0.08). Our results suggested ARSA may not play important roles in PD of Chinese population.

Keywords: ARSA; Association analysis; Burden analysis; Parkinson's disease; Variants.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics
  • Cerebroside-Sulfatase / genetics*
  • Cerebroside-Sulfatase / physiology
  • Female
  • Genetic Association Studies / methods*
  • Genetic Predisposition to Disease / genetics*
  • Genetic Variation / genetics*
  • Humans
  • Loss of Function Mutation / genetics
  • Male
  • Negative Results*
  • Parkinson Disease / genetics*
  • alpha-Synuclein

Substances

  • SNCA protein, human
  • alpha-Synuclein
  • Cerebroside-Sulfatase