title: Mutation analysis of the seven in absentia homolog 1 (SIAH1) gene in Parkinson's disease.
abstract: Seven in absentia homolog 1 (SIAH-1) is a member of the RING-finger-containing E3 ubiquitin ligases. Two substrates of SIAH-1 are alpha-synuclein and synphilin-1, both of these proteins are involved in Parkinson's disease (PD). Recently, mutations in Parkin, another E3 ubiquitin ligase which ubiquinates synphilin-1 and glycosylated alpha-synuclein, have been defined as a major cause of autosomal recessive PD. The potential role of SIAH-1 in PD is further underlined as SIAH-1 protein is a component of the Lewy bodies and as it plays a role in apoptosis caused by nitric oxide (NO) induced oxidative stress. Thus, we performed a mutation screening of the SIAH-1 gene in PD patients. However, screening a large sample of 209 familial and sporadic PD patients we could not find any disease causing mutation. We therefore conclude that genetic alterations of SIAH-1 do not significantly contribute to the pathogenesis of PD.
authors.affiliation: Department of Medical Genetics, University of Tuebingen, Tuebingen, Germany.
authors.forename: T
authors.initials: T
authors.lastname: Franck
authors.forename: R
authors.initials: R
authors.lastname: Krueger
authors.forename: D
authors.initials: D
authors.lastname: Woitalla
authors.forename: T
authors.initials: T
authors.lastname: Müller
authors.forename: S
authors.initials: S
authors.lastname: Engelender
authors.forename: O
authors.initials: O
authors.lastname: Riess
mesh_terms: D000368:Aged; D002851:Chromatography, High Pressure Liquid; D015331:Cohort Studies; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics*; D011489:Protein Denaturation; D020133:Reverse Transcriptase Polymerase Chain Reaction; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*; D000098563:Seven in Absentia Proteins
chemical_list: D009687:Nuclear Proteins; D004247:DNA; D044767:Ubiquitin-Protein Ligases; D000098563:Seven in Absentia Proteins