title: Alpha-synuclein in blood and brain from familial Parkinson disease with SNCA locus triplication.
abstract: The authors recently demonstrated that genetic triplication of the SNCA locus causes Parkinson disease. Here it is shown that SNCA triplication results in a doubling in the amount of alpha-synuclein protein in blood. Examination of brain tissue showed a doubling in the level of SNCA message. However, at the protein level in brain, there was a greater effect on deposition of aggregated forms into insoluble fractions than on net expression of soluble alpha-synuclein.
authors.affiliation: Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
authors.forename: D W
authors.initials: DW
authors.lastname: Miller
authors.forename: S M
authors.initials: SM
authors.lastname: Hague
authors.forename: J
authors.initials: J
authors.lastname: Clarimon
authors.forename: M
authors.initials: M
authors.lastname: Baptista
authors.forename: K
authors.initials: K
authors.lastname: Gwinn-Hardy
authors.forename: M R
authors.initials: MR
authors.lastname: Cookson
authors.forename: A B
authors.initials: AB
authors.lastname: Singleton
mesh_terms: D001923:Brain Chemistry; D005784:Gene Amplification; D018628:Gene Dosage; D006801:Humans; D008970:Molecular Weight; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000032:analysis* / Q000097:blood / Q000737:chemistry / Q000235:genetics; D010300:Parkinson Disease / Q000097:blood / Q000235:genetics* / Q000378:metabolism; D012333:RNA, Messenger / Q000096:biosynthesis*; D012995:Solubility; D051843:Synucleins; D051844:alpha-Synuclein
chemical_list: D009419:Nerve Tissue Proteins; D012333:RNA, Messenger; C497604:SNCA protein, human; D051843:Synucleins; D051844:alpha-Synuclein