From genes to proteins in mendelian Parkinson's disease: an overview

Anat Rec (Hoboken). 2009 Dec;292(12):1893-901. doi: 10.1002/ar.20968.

Abstract

Parkinson's disease (PD) is the second most common neurodegenerative disorder after Alzheimer's disease. A progressive movement disorder typified by the production of bradykinesia, tremor, rigidity, and impairment of postural reflexes, PD is characterized by a depletion of dopamine in the striatum. For the last decade, several Mendelian forms of PD have been identified. Mutations in these genes potentially lead to autosomal dominant (alpha-synuclein and LRRK2), or autosomal recessive PD (Parkin, PINK1, DJ1, and ATP13A2). This article will spotlight these six distinct genes unambiguously associated with Mendelian PD and the function of their encoded proteins.

Publication types

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

MeSH terms

  • Animals
  • Gene Expression Regulation / genetics*
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / metabolism*
  • Oncogene Proteins / genetics
  • Parkinson Disease / genetics*
  • Parkinson Disease / metabolism*
  • Parkinson Disease / physiopathology
  • Protein Deglycase DJ-1
  • Protein Kinases / genetics
  • Protein Serine-Threonine Kinases / genetics
  • Ubiquitin-Protein Ligases / genetics
  • alpha-Synuclein / genetics

Substances

  • Intracellular Signaling Peptides and Proteins
  • Nerve Tissue Proteins
  • Oncogene Proteins
  • alpha-Synuclein
  • Ubiquitin-Protein Ligases
  • parkin protein
  • Protein Kinases
  • LRRK2 protein, human
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • PTEN-induced putative kinase
  • Protein Serine-Threonine Kinases
  • PARK7 protein, human
  • Protein Deglycase DJ-1