Abstract
Parkinson’s disease (PD) is a severe neurological disorder pathogenesis of which involves various genetic systems and environmental factors. However, despite extensive research on this disease, its causes remain incompletely elucidated and the exact range of genes and mutations involved in pathogenesis of the hereditary forms of PD has not yet been fully clarified. The present work is devoted to the analysis of mutations that lead to development of monogenic forms of PD in patients with the suspected autosomal dominant form of PD using multiplex ligation-dependent probe amplification (MLPA). We have identified several mutations (G2019S in LRRK2, heterozygous deletions of 2–3, 3–4 exons and heterozygous duplication of 2–4 exons in the PARK2 gene, deletion of the 3 exon in the PARK7 gene) that lead to development in only 7 people out of 70 (18.4%), which suggests the need for further research on new mutations, for example, using exome sequencing. In the future, this will help in developing molecular genetic tests for early preclinical diagnostics and risk evaluation of PD and understanding the causes and mechanisms of this disease better.
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Original Russian Text © E.V. Filatova, A.Kh. Alieva, M.I. Shadrina, M.V. Shulskaya, E.Yu. Fedotova, S.N. Illarioshkin, S.A. Limborska, P.A. Slominsky, 2014, published in Molekulyarnaya Genetika, Mikrobiologiya i Virusologiya, 2014, No. 1, pp. 3–4.
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Filatova, E.V., Alieva, A.K., Shadrina, M.I. et al. Analysis of mutations in patients with suspected autosomal dominant forms of Parkinson’s disease. Mol. Genet. Microbiol. Virol. 29, 1–3 (2014). https://doi.org/10.3103/S0891416814010029
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DOI: https://doi.org/10.3103/S0891416814010029