Genetics of Parkinson's disease.
Several genetic factors have been recently recognized as related to the etiology of Parkinson's disease. Mutations in the genes coding for alpha-synuclein and ubiquitin carboxy-terminal hydrolase have been identified in families with autosomal dominant Parkinson's disease. Mutations in the Parkin gene are responsible for autosomal recessive parkinsonism. These first pieces of the molecular puzzle of Parkinson's disease offer novel insights into the pathophysiology of the illness.
Polymeropoulos
M H
MH
Novartis Pharmaceuticals Corporation, Pharmacogenetics Department, 9 West Watkins, Gaithersburg, MD 20878, USA. mihael.polymeropoulos@pharma.novartis.com
D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D008025:Ligases; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D010300:Parkinson Disease / Q000235:genetics*; D011506:Proteins / Q000235:genetics; D051843:Synucleins; D013869:Thiolester Hydrolases / Q000235:genetics; D043222:Ubiquitin Thiolesterase; D044767:Ubiquitin-Protein Ligases; D051844:alpha-Synuclein
D009419:Nerve Tissue Proteins; D011506:Proteins; C497604:SNCA protein, human; D051843:Synucleins; D051844:alpha-Synuclein; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D013869:Thiolester Hydrolases; D043222:Ubiquitin Thiolesterase; D008025:Ligases