Genetic association study of synphilin-1 in idiopathic Parkinson's disease.

ABSTRACT:

Background

Post-mortem Lewy body and Lewy neuritic inclusions are a defining feature of Parkinson's disease (PD) and dementia with Lewy bodies (DLB). With the discovery of missense and multiplication mutations in the alpha-synuclein gene (SNCA) in familial parkinsonism, Lewy inclusions were found to stain intensely with antibodies raised against the protein. Yeast-two-hybrid studies identified synphilin-1 as an interacting partner of alpha-synuclein, and both proteins show co-immunolocalization in a subset of Lewy body inclusions. In the present study, we have investigated whether common variability in synphilin-1, including coding substitutions are genetically associated with disease pathogenesis.

Methods

We screened the synphilin-1 gene for 11 single nucleotide polymorphis

SUBMITTER: Myhre R 

PROVIDER: S-EPMC2329608 | biostudies-literature | 2008 Mar

REPOSITORIES: biostudies-literature