Genetic aspects of Parkinson's disease
Year: 2022, volume 18 Issue: №1 Pages: 155-159
Heading: Тhematic supplement Article type: Review
Authors: Shpileva S.A., Kalinin V.A., Poverennova I.E., Natalevich S.P.
Organization: Samara State Medical University
Heading: Тhematic supplement Article type: Review
Authors: Shpileva S.A., Kalinin V.A., Poverennova I.E., Natalevich S.P.
Organization: Samara State Medical University
Summary:
Objective: to analyze of genetic mutations in patients suffering from Parkinson's disease. To achieve this objective, domestic articles and dissertations were studied, as well as foreign literary sources placed in scientific databases such as PubMed and Medscape. The list of references consists of 25 scientific researchs published from 2015 to 2022. In a result of generalization and systematization of the data, it was found that mutations in different gene loci lead to different clinical phenotypes of Parkinson's disease, which can help predict the course of the disease. It was also determined that the mutation in the GBA gene is the most common genetic defect in the Russian population. Determination of genetic mutations that cause Parkinson's disease in real clinical practice will allow diagnosis and treatment of the disease at the premotor stage, especially in people with a burdened family history.
Bibliography:
1. Esmail S. The diagnosis and management of Parkinson's disease. Sen J Appl Sci Res 2018; (9): 13-9.
2. Goncharova ZA, Rabadanova EA, Gelpey MA. Epidemiology analysis of Parkinson's disease in Rostov-on-Don. Saratov Journal of Medical Scientific Research 2017; 13 (1): 135-9.
3. Tappakhov АА, Popova ТЕ, Nikolaeva TYa, et al. The genetic basisof Parkinson's disease. Neurology, Neuropsychiatry Psychosomatics 2017; 9 (1): 96-100.
4. Spillantini MG, Goedert М. Neurodegeneration and the ordered assembly of a-synuclein. Cell Tissue Res 2018; 373 (1): 137-48.
5. RanaA, Ahmed U, ChaudryZ, et al. Parkinson's disease: A review of non-motor symptoms. Expert Rev Neurother 2015; (15): 549-62.
6. Kalia LV, Lang AE. Parkinson's disease. Lancet 2015; 386 (9996): 896-912. DOI: 10.1016/S0140-6736(14)61393-3.
7. Shehzadi A, Razzaq K, Tahir M, et. al. Parkinson's Disease. International Journal of Applied Biology and Forensics 2018; (2): 175-9.
8. de Miranda BR, Greenamyre J. Etiology and pathogenesis of Parkinson's disease. In: Franco R, Jonathan A, ed. Oxidative stress and redox signalling in Parkinson's disease. Pittsburgh, 2017; p. 1-26. DOI: 10.1039/9781782622888-00001.
9. Larkin M. Subtle findings may predict Parkinson's disease risk in LRRK2, GBA mutation carriers. URL: https:// www.medscape.com/viewarticle/921402 (15 Nov 2019).
10. Fedotova EYu. Primary parkinsonism: molecular genetic analysis, biomarkers, prodromal stage. DScdiss. Moscow, 2018; 317 p.
11. HauserRA, Lyons КЕ, McClainTA. Parkinson's disease. URL: https://emedicine.medscape.com/article/1831191-overviw (04 Jun 2020).
12. Senkevich KA. Molecular genetic and clinical aspects of Parkinson's disease associated with mutations in the glucocerebrosidase (GBA) gene. PhD dissertation. St. Petersburg, 2018; 129 p.
13. Dugger BN, Dickson DW. Pathology of neurodegenera-tive diseases. URL: https://www.ncbi.nlm.nih.gov/pmc/articles/ PMC5495060/#A028035C21 (09 Jul 2017).
14. Stormo AED, Shavarebi F, FitzGibbon M, et al. The E3 ligase TRIM1 ubiquitinates LRRK2 and controls its localization, degradation, and toxicity. J Cell Biol 2022; 221 (4): e202010065. DOI: 10.1083/jcb. 202010065.
15. Kang SJ, Kim JS, Park SM. Ubiquitin C-terminal hydrolase L1 regulates lipid raft-dependent endocytosis. Experimental Neurobiology 2018; 27 (5): 337.
16. Kett LR, Stiller B, Bernath MM. a-Synuclein-lndependent Histopathological and Motor Deficits in Mice Lacking the Endolysosomal Parkinsonism Protein Atp13a2. J Neurosci 2015; 35 (14): 5724-42.
17. El Manaa W, Duplan E, Goiran T, et al. Transcription-and phosphorylation-dependent control of a functional interplay between XBPIs and PINK1 governs mitophagy and potentially impacts Parkinson disease pathophysiology. Autophagy 2021; 17 (12): 4363-85.
18. Sanchez-Lanzas R, Castano JG. Mitochondrial LonP1 protease is implicated in the degradation of unstable Parkinson's disease-associated DJ-1/PARK 7 missense mutants. URL: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8016953/(01 Apr 2021).
19. Swan M, Saunders-Pullman R. The association between li-glucocerebrosidase mutations and parkinsonism. URL: https:// www.ncbi.nlm.nih.gov/pmc/articles/PMC3816495/(01 Aug 2014).
20. Blauwendraat K, Reed X, Krohn L, et al. Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia. URL: https:// pubmed.ncbi.nlm.nih.gov/31755958/(1 Jan 2020).
21. Barkhuizen M, Anderson DG, Grobler AF. Advances in GBA-assodated Parkinson'sdisease, pathology, presentation and therapies. URL: https://pubmed.ncbi.nlm.nih.gov/26743617/(30 Dec 2015).
22. Hongyu L, Ham A, Ma TC, et al. Mitochondrial dysfunction and mitophagy defect triggered by heterozygous GBA mutations. Autophagy 2019; 15(1): 113-30.
23. Senkevich KA, Miliukhina IV, Beletskaia MV, et al. The clinical features of Parkinson's disease in patients with mutations and polymorphic variants of GBA gene. S.S. Korsakov Journal of Neurology and Psychiatry 2017; (10): 81-6.
24. UsenkoT, BezrukovaA, Basharova К, etal. Comparative transcriptome analysis in monocyte-derived macrophages of asymptomatic GBA mutation carriers and patients with GBA-associated Parkinson's disease. Genes (Basel) 2021; 12 (10): 1545.
25. Menozzi E, Schapira HV. Exploring the genotype-phenotype correlation in GBA-Parkinson disease: clinical aspects, biomarkers, and potential modifiers. URL: https:// www.ncbi.nlm.nih.gov/pmc/articles/PMC8264189/(24 Jun 2021).
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