title: Mutations in the gene encoding human persyn are not associated with amyotrophic lateral sclerosis or familial Parkinson's disease.
abstract: The synucleins are a family of small proteins expressed in nervous tissue, which have been implicated in neurodegeneration. Using single strand conformation polymorphism analysis we screened for polymorphisms and mutations in the gene encoding human persyn, a recently discovered member of the synuclein family, in controls, patients with sporadic or familial amyotrophic lateral sclerosis (ALS) or familial Parkinson's disease (PD). Six polymorphisms in the genomic sequence of persyn were detected; A590C (5' untranslated region), G1943C (exon 3), G2049A (intron 3), T4502C (intron 3), T4552A (exon 4) and C5019T (3' untranslated region). However no associations with disease state were found in our sample group.
authors.affiliation: Clinical Neurosciences, Institute of Psychiatry and Guy's, King's and St. Thomas' School of Medicine, Denmark Hill, London, UK. spgtjof@iop.kcl.ac.uk
authors.forename: J M
authors.initials: JM
authors.lastname: Flowers
authors.forename: P N
authors.initials: PN
authors.lastname: Leigh
authors.forename: A M
authors.initials: AM
authors.lastname: Davies
authors.forename: N N
authors.initials: NN
authors.lastname: Ninkina
authors.forename: V L
authors.initials: VL
authors.lastname: Buchman
authors.forename: J
authors.initials: J
authors.lastname: Vaughan
authors.forename: N W
authors.initials: NW
authors.lastname: Wood
authors.forename: J F
authors.initials: JF
authors.lastname: Powell
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009363:Neoplasm Proteins; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D051845:gamma-Synuclein
chemical_list: D009363:Neoplasm Proteins; D009419:Nerve Tissue Proteins; C104249:SNCG protein, human; D051845:gamma-Synuclein