title: [Parkin gene: its mutations and function].
abstract: To date, nine forms of familial Parkinson's disease (PD) have been mapped to different chromosome loci. Among them, Park 2, which is an autosomal recessive form (AR-JP) by parkin gene mutations, is the most common form of familial PD. Indeed, this form of familial PD distributed in the world wide such as European, North American, Turkish, Japanese families. Moreover, we know that the role of parkin protein in the brains is to break down misfolded proteins as an ubiquitin-protein ligase. Very recently, although the presence of Lewy bodies have been reported in one case, the lack of Lewy bodies in parkin-mutated brains suggests us a fundamental pathology for Lewy bodies. Therefore, the parkin function could be essential for the Lewy body formation. Thus, the elucidation of the exact role of parkin protein provides us the mechanisms of the formation of Lewy bodies in common forms of sporadic PD. Therefore, it is important to detect the substrates for the parkin protein. Recently, several candidate substrates have been reported including CDCrel-1, synphilin-1, alpha-synuclein-22 (o-glycosylated alpha-synuclein), and Peal-receptor. The question is accumulation of which substrates are responsible for the nigral neuronal death in Park 2 linked brain.
authors.affiliation: Department of Neurology, Juntendo University School of Medicine.
authors.forename: Nobutaka
authors.initials: N
authors.lastname: Hattori
mesh_terms: D006801:Humans; D008025:Ligases / Q000235:genetics* / Q000502:physiology*; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics; D044767:Ubiquitin-Protein Ligases
chemical_list: D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases