Unaltered alpha-synuclein blood levels in juvenile Parkinsonism with a parkin exon 4 deletion.
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.
Miller
David W
DW
Laboratory of Neurogenetics, NIA, National Institutes of Health, Bldg. 35, Rm 1A-100, 35 Convent Drive, Bethesda, MD 20892, USA. millerda@mail.nih.gov
Crawley
Anthony
A
Gwinn-Hardy
Katrina
K
Lopez
Grisel
G
Nussbaum
Robert
R
Cookson
Mark R
MR
Singleton
Andrew B
AB
Hardy
John
J
Dogu
Okan
O
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
D009419:Nerve Tissue Proteins; C497604:SNCA protein, human; D051843:Synucleins; D051844:alpha-Synuclein; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein