title: [Molecular pathogenesis of familial Parkinson's disease].
abstract: Parkinson's disease is thought to be caused by an interaction of polygenic predisposition with environmental factors. In contrast, familial parkinsonism is caused by a single gene mutation. Four causative genes, i.e. alpha-synuclein, tau, UCH-L1 and parkin gene, have been already identified during the last three years. Their functions are being investigated from the points of over-production of abnormal proteins or abnormal proteolysis caused by them. Investigating and characterizing these causative genes may help us to explore the molecular mechanism of nigral neuronal cell death in sporadic type as well. In this paper, we review recent progress in molecular structures, pathogenesis, and animal models for these four genes.
authors.affiliation: Department of Neurology, Juntendo University School of Medicine.
authors.forename: T
authors.initials: T
authors.lastname: Kitada
authors.forename: Y
authors.initials: Y
authors.lastname: Mizuno
mesh_terms: D000818:Animals; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D006801:Humans; D008025:Ligases / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D010300:Parkinson Disease / Q000235:genetics*; D051843:Synucleins; D013869:Thiolester Hydrolases / Q000235:genetics; D043222:Ubiquitin Thiolesterase; D044767:Ubiquitin-Protein Ligases; D051844:alpha-Synuclein; D016875:tau Proteins / Q000235:genetics
chemical_list: D009419:Nerve Tissue Proteins; C497604:SNCA protein, human; D051843:Synucleins; D051844:alpha-Synuclein; D016875:tau Proteins; D044767:Ubiquitin-Protein Ligases; D013869:Thiolester Hydrolases; D043222:Ubiquitin Thiolesterase; D008025:Ligases