title: Unaltered alpha-synuclein blood levels in juvenile Parkinsonism with a parkin exon 4 deletion.
abstract: We recently reported here that SNCA triplication results in a doubling in the amount of alpha-synuclein protein in blood from cases with hereditary Lewy body disease. This observation shows that alpha-synuclein levels in blood accurately reflect gene dosage, which we assume drives pathogenesis in these individuals. A previous report has suggested that parkin can affect alpha-synuclein metabolism in human brain. Here we have tested whether there is also an increase of alpha-synuclein in autosomal recessive juvenile Parkinsonism (ARJP). We find there is not and discuss this result in terms of the putative relationships between alpha-synuclein and parkin.
authors.affiliation: Laboratory of Neurogenetics, NIA, National Institutes of Health, Bldg. 35, Rm 1A-100, 35 Convent Drive, Bethesda, MD 20892, USA. millerda@mail.nih.gov
authors.forename: David W
authors.initials: DW
authors.lastname: Miller
authors.forename: Anthony
authors.initials: A
authors.lastname: Crawley
authors.forename: Katrina
authors.initials: K
authors.lastname: Gwinn-Hardy
authors.forename: Grisel
authors.initials: G
authors.lastname: Lopez
authors.forename: Robert
authors.initials: R
authors.lastname: Nussbaum
authors.forename: Mark R
authors.initials: MR
authors.lastname: Cookson
authors.forename: Andrew B
authors.initials: AB
authors.lastname: Singleton
authors.forename: John
authors.initials: J
authors.lastname: Hardy
authors.forename: Okan
authors.initials: O
authors.lastname: Dogu
mesh_terms: D015153:Blotting, Western / Q000379:methods; D005091:Exons; D005192:Family Health; D017353:Gene Deletion; D018628:Gene Dosage; D006801:Humans; D009419:Nerve Tissue Proteins / Q000097:blood*; D020734:Parkinsonian Disorders / Q000097:blood / Q000235:genetics*; D051843:Synucleins; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*; D051844:alpha-Synuclein
chemical_list: D009419:Nerve Tissue Proteins; C497604:SNCA protein, human; D051843:Synucleins; D051844:alpha-Synuclein; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein