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


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.

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V. Filatova, E., I. Shadrina, M., Fedotova, E., Ivanova-Smolenskaya, I., Illarioshkin, S., Limborska, S. and Slominsky, P. (2013) Analysis of known point mutations and SNPs in genes responsible for monogenic Parkinson’s disease in Russian patients. Advances in Parkinson's Disease, 2, 28-30. doi: 10.4236/apd.2013.21005.

Conflicts of Interest

The authors declare no conflicts of interest.


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