Molecular and genetic features of calpainopathy

Author:

Mkrtchyan L. A.,Slesarenko Y. S.,Yakovlev I. A.,Bardakov S. N.,Deev R. V.

Abstract

Calpainopathy is the most common form of limb-girdle muscular dystrophy, prevalence in the population is approximately 1 in 15,00042,700 individuals. In the Russian Federation, there is an insufficient number of studies, which researched prevalence of calpainopathy among patients with limb-girdle muscular dystrophy, but according to available data, approximately in 43% of cases the disease is associated with mutations of the CAPN3 gene. Molecular genetic analysis is the main method for diagnosing these patients. Studies indicate many pathogenic mutations that cause calpainopathy with corresponding phenotypes, however, it is quite difficult to establish clear correlations between genotype and phenotype due to the high variability of symptoms and severity, even among patients with the same CAPN3 gene mutations. Currently, there is no effective etiotropic treatment for limb-girdle muscular dystrophy, but new technologies are developing to improve patients condition and quality of life. This research collects data from various studies on the prevalence of calpainopathy in different countries and the main molecular genetic features of the CAPN3 gene and calpain-3 protein, which will further allow the development of possible treatment options for patients with limbgirdle muscular dystrophy.

Publisher

ECO-Vector LLC

Subject

Transplantation,Cell Biology,Molecular Biology,Biomedical Engineering,Surgery,Biotechnology

Reference54 articles.

1. Bertini E., D'Amico A., Gualandi F. et al. Congenital muscular dystrophies: a brief review. Semin. Pediatr. Neurol. 2011; 18(4): 277–88.

2. Ono Y., Ojima K., Shinkai-Ouchi F. et al. An eccentric calpain, CAPN3/p94/calpain-3. Biochimie 2016; 122: 169–87.

3. Гришина Д.А., Супонева Н.А., Шведков В.В. и соавт. Наследственная прогрессирующая конечностно-поясная мышечная дистрофия 2а типа (кальпаинопатия): обзор литературы. Нервно-мышечные болезни 2015; 5(1): 25–36 [Grishina D.A., Suponeva N.A., Shvedkov V.V. et al. Inherited progressive limb-girdle muscular dystrophy type 2A (calpainopathy): a review of literature. Neuromuscular Diseases 2015; 5(1): 25–36].

4. Рыжкова О.П. Клинико-молекулярно-генетический анализ изолированных поясно-конечностных мышечных дистрофий, являющихся ферментопатиями. Автореф. дис. канд. мед. наук. Москва: Медико-генетический научный центр им. академика Н.П. Бочкова. 2011: 28 [Ryzhkova O.P. Clinical and molecular-genetic analysis of isolated limb-girdle muscular dystrophy, which fermentopathia. Abstract of the dissertation of a cand. of med. sciences. Moscow: Academician N.P. Bochkov Medical and Genetic Research Center. 2011: 28].

5. Дадали Е.Л., Щагина О.А., Рыжкова О.П. и соавт. Клинико-генетические характеристики поясно-конечностной мышечной дистрофии 2А типа. Журнал неврологии и психиатрии 2010; 110(4): 79–83 [Dadali E.L., Shchagina O.A., Ryzhkova O.P. et al. Clinical-genetic characteristics of limb girdle-muscular dystrophy type 2A. Journal of Neurology and Psychiatry 2010; 110(4): 79–83].

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