Genetic Architecture of Parkinson's Disease

Biochemistry (Mosc). 2023 Mar;88(3):417-433. doi: 10.1134/S0006297923030100.

Abstract

Year 2022 marks 25 years since the first mutation in familial autosomal dominant Parkinson's disease was identified. Over the years, our understanding of the role of genetic factors in the pathogenesis of familial and idiopathic forms of Parkinson's disease has expanded significantly - a number of genes for the familial form of the disease have been identified, and DNA markers for an increased risk of developing its sporadic form have been found. But, despite all the success achieved, we are far from an accurate assessment of the contribution of genetic and, even more so, epigenetic factors to the disease development. The review summarizes the information accumulated to date on the genetic architecture of Parkinson's disease and formulates issues that need to be addressed, which are primarily related to the assessment of epigenetic factors in the disease pathogenesis.

Keywords: Parkinson’s disease; epigenetics; genetic risk; genetics; genome-wide association analysis; monogenic form; mutation analysis; sporadic form.

Publication types

  • Review

MeSH terms

  • Animals
  • Epigenesis, Genetic*
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Humans
  • Mutation*
  • Parkinson Disease* / genetics