Analysis of known point mutations and SNPs in genes responsible for monogenic Parkinson’s disease in Russian patients

Elena V. Filatova, Maria I. Shadrina, Ekaterina Y. Fedotova, Irina A. Ivanova-Smolenskaya, Sergei N. Illarioshkin, Svetlana A. Limborska, Petr A. Slominsky

Institute of Molecular Genetics, Russian Academy of Sciences, Moscow, Russia.
Research Centre of Neurology, Russian Academy of Medical Sciences, Moscow, Russia.

DOI: 10.4236/apd.2013.21005                

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.

Keywords

Parkinson’s Disease; Point Mutations; Single-Nucleotide Polymorphisms

Conflicts of Interest

The authors declare no conflicts of interest.

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