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Updated: Jul 11, 2026
09:27
Sequential Extraction of Soluble and Insoluble Alpha-Synuclein from Parkinsonian Brains
Published on: January 5, 2016
alpha-Synuclein and Parkinson disease susceptibility
S Winkler1, J Hagenah, S Lincoln
1Department of Neurology, University of Lübeck; Ratzeburger Allee 160, 23538 Lübeck, Germany.
Neurology
|September 18, 2007
Summary
Genetic variations in the alpha-synuclein (SNCA) gene are linked to Parkinson disease (PD) risk. Specific SNCA promoter and 3'UTR variants show significant association with idiopathic PD susceptibility.
Area of Science:
- Genetics
- Neuroscience
- Human disease genetics
Background:
- Mutations in the alpha-synuclein (SNCA) gene cause rare familial Parkinson disease (PD).
- SNCA gene variants are associated with idiopathic PD susceptibility in diverse populations.
Purpose of the Study:
- To confirm the role of SNCA variants in Parkinson disease (PD) pathogenesis.
- Investigate genetic associations within the SNCA locus and PD susceptibility.
Main Methods:
- Genotype analysis of 14 markers across the SNCA locus in 667 individuals (397 PD cases, 270 controls).
- Haplotype analysis of four promoter markers, including the Rep1 microsatellite.
- Evaluation of European populations from Northern Central and Southeastern regions.
Main Results:
- Three promoter single nucleotide polymorphisms (SNPs) and one 3'UTR SNP in SNCA showed significant association with PD (p ≤ 0.003).
- A specific promoter haplotype ('261-T-G-T') was associated with PD (p = 0.032), independent of Rep1 status.
- Strongest association observed when excluding Rep1 (p = 0.008), consistent in Serbian patients.
Conclusions:
- Genetic variability in the SNCA locus is confirmed to be associated with idiopathic PD susceptibility.
- SNCA SNPs at both 5' and 3' ends are linked to PD, with significant linkage disequilibrium.
- A major SNCA promoter haplotype class contributes to PD susceptibility, independent of Rep1.
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