[Parkinson's disease: what have we learned from the genes responsible for familial forms?]

Med Sci (Paris). 2003 May;19(5):613-9. doi: 10.1051/medsci/2003195613.
[Article in French]

Abstract

Parkinson's disease is characterized by the progressive and selective loss of the dopaminergic neurons in the substantia nigra and the presence of ubiquitinated protein inclusions termed Lewy bodies. In the past six years, four genes involved in rare inherited forms of Parkinson's disease have been identified: mutations in the alpha-synuclein and ubiquitin carboxyterminal hydrolase L1 genes (UCH-L1) cause autosomal dominant forms, whereas mutations in the Parkin and DJ-1 genes are responsible for autosomal recessive forms of the disease. A toxic gain of function related to the ability of alpha-synuclein to assemble into insoluble amyloid fibrils may underlie neuronal cell death in parkinsonism due to alpha-synuclein gene mutations. In contrast, loss of protein function appears to be the cause of the disease in parkinsonism due to mutations in the genes encoding Parkin and UCH-L1, which are key enzymes of the ubiquitin-proteasome pathway. The presence of alpha-synuclein, Parkin and UCH-L1 in Lewy bodies suggests that dysfunction of pathways involved in protein folding and degradation is not only involved in the pathogenesis of familial Parkinson's disease, but could also play a role in the frequent sporadic form of the disease (idiopathic Parkinson's disease).

Publication types

  • Comparative Study
  • Review

MeSH terms

  • Age of Onset
  • Chromosomes, Human / genetics
  • Cysteine Endopeptidases / metabolism
  • Dopamine / physiology
  • Genes, Dominant
  • Genes, Recessive
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Lewy Bodies
  • Ligases / deficiency
  • Ligases / genetics
  • Ligases / physiology*
  • MPTP Poisoning / physiopathology
  • Models, Neurological
  • Multienzyme Complexes / metabolism
  • Nerve Tissue Proteins / deficiency
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / physiology
  • Oncogene Proteins / genetics
  • Oncogene Proteins / physiology
  • Parkinson Disease / epidemiology
  • Parkinson Disease / genetics*
  • Proteasome Endopeptidase Complex
  • Protein Deglycase DJ-1
  • Protein Folding
  • Substantia Nigra / physiopathology
  • Synucleins
  • Thiolester Hydrolases / deficiency
  • Thiolester Hydrolases / physiology
  • Ubiquitin / metabolism
  • Ubiquitin Thiolesterase
  • Ubiquitin-Protein Ligases*
  • alpha-Synuclein

Substances

  • Intracellular Signaling Peptides and Proteins
  • Multienzyme Complexes
  • Nerve Tissue Proteins
  • Oncogene Proteins
  • SNCA protein, human
  • Synucleins
  • Ubiquitin
  • alpha-Synuclein
  • Ubiquitin-Protein Ligases
  • parkin protein
  • PARK7 protein, human
  • Protein Deglycase DJ-1
  • Thiolester Hydrolases
  • Ubiquitin Thiolesterase
  • Cysteine Endopeptidases
  • Proteasome Endopeptidase Complex
  • Ligases
  • Dopamine