title: No mutation in the entire coding region of the alpha-synuclein gene in pathologically confirmed cases of multiple system atrophy.
abstract: To determine whether mutations in the coding region of the alpha-synuclein gene are relevant in cases of multiple system atrophy (MSA), detailed nucleotide sequence analysis of the alpha-synuclein gene was performed using total RNA obtained from autopsied brain specimens of 11 pathologically confirmed cases of MSA. The brain specimens used in this study contained both gray and white matter, which were dissected from the frontal, temporal or occipital lobe. No nucleotide alterations were found in the entire coding region of the alpha-synuclein gene in any of the cases. While mutations in the regulatory or intronic regions of the gene were not ruled out, our results suggest that mutations in the coding region of the alpha-synuclein gene are unlikely to contribute to the pathogenesis of MSA.
authors.affiliation: Department of Neurology, Brain Research Institute, Niigata University, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Ozawa
authors.forename: H
authors.initials: H
authors.lastname: Takano
authors.forename: O
authors.initials: O
authors.lastname: Onodera
authors.forename: H
authors.initials: H
authors.lastname: Kobayashi
authors.forename: T
authors.initials: T
authors.lastname: Ikeuchi
authors.forename: R
authors.initials: R
authors.lastname: Koide
authors.forename: K
authors.initials: K
authors.lastname: Okuizumi
authors.forename: T
authors.initials: T
authors.lastname: Shimohata
authors.forename: K
authors.initials: K
authors.lastname: Wakabayashi
authors.forename: H
authors.initials: H
authors.lastname: Takahashi
authors.forename: S
authors.initials: S
authors.lastname: Tsuji
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence / Q000235:genetics; D002102:Cadaver; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D019578:Multiple System Atrophy / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D012313:RNA / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D051843:Synucleins; D051844:alpha-Synuclein
chemical_list: D009419:Nerve Tissue Proteins; C497604:SNCA protein, human; D051843:Synucleins; D051844:alpha-Synuclein; D012313:RNA