TITLE:
Analysis of known point mutations and SNPs in genes responsible for monogenic Parkinson’s disease in Russian patients
AUTHORS:
Elena V. Filatova, Maria I. Shadrina, Ekaterina Y. Fedotova, Irina A. Ivanova-Smolenskaya, Sergei N. Illarioshkin, Svetlana A. Limborska, Petr A. Slominsky
KEYWORDS:
Parkinson’s Disease; Point Mutations; Single-Nucleotide Polymorphisms
JOURNAL NAME:
Advances in Parkinson's Disease,
Vol.2 No.1,
February
18,
2013
ABSTRACT: Background: Parkinson’s disease (PD) is caused by complex interactions between genetic and environmental factors. Mendelian forms of PD rarely occur in practice, but respective genes may play some role in pathogenesis of a common sporadic form of the disease. Methods: We analyzed most frequent known point mutations (PMs) and single-nucleotide polymorphisms (SNPs) in genes responsible for monogenic PD in 408 Russian patients, using arrayed primer extension (APEX), real-time PCR, and restriction fragment length polymorphism analysis. Results: We detected only three heterozygous PMs in the PARK2 gene in three non-related patients with early-onset sporadic PD. No association between PD and the studied SNPs was identified. Conclusion: The examined PMs and SNPs in genes responsible for monogenic PD do not contribute significantly to the development of sporadic PD in Russia.