Genetics of Parkinson's disease and biochemical studies of implicated gene products

Curr Opin Genet Dev. 2002 Jun;12(3):299-306. doi: 10.1016/s0959-437x(02)00302-7.


Parkinson's disease was thought, until recently, to have little or no genetic component. This notion has changed with the identification of three genes, and the mapping of five others, that are linked to rare familial forms of the disease (FPD). The products of the identified genes, alpha-synuclein (PARK 1), parkin (PARK 2), and ubiquitin-C-hydrolase-L1 (PARK 5) are the subject of intense cell-biological and biochemical studies designed to elucidate the underlying mechanism of FPD pathogenesis. In addition, the complex genetics of idiopathic PD is beginning to be unraveled. Genetic information may prove to be useful in identifying new therapeutic targets and identifying the preclinical phase of PD, allowing treatment to begin sooner.

Publication types

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

MeSH terms

  • Brain / metabolism
  • Genome, Human
  • Humans
  • Lewy Bodies / genetics
  • Lewy Bodies / metabolism
  • Ligases / genetics*
  • Ligases / metabolism
  • Models, Genetic
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / metabolism
  • Parkinson Disease / genetics*
  • Parkinson Disease / metabolism
  • Synucleins
  • Thiolester Hydrolases / genetics
  • Thiolester Hydrolases / metabolism
  • Ubiquitin Thiolesterase
  • Ubiquitin-Protein Ligases*
  • alpha-Synuclein


  • Nerve Tissue Proteins
  • SNCA protein, human
  • Synucleins
  • alpha-Synuclein
  • Ubiquitin-Protein Ligases
  • parkin protein
  • Thiolester Hydrolases
  • Ubiquitin Thiolesterase
  • Ligases