Molecular and genetic features of calpainopathy

L. A. Mkrtchyan; Мкртчян Л. А.; Y. S. Slesarenko; Слесаренко Я. С.; I. A. Yakovlev; Яковлев И. А.; S. N. Bardakov; Бардаков С. Н.; R. V. Deev; Деев Р. В.

doi:10.23868/202209001

Molecular and genetic features of calpainopathy

Authors: Mkrtchyan L.A.¹^,2, Slesarenko Y.S.²^,3, Yakovlev I.A.²^,3, Bardakov S.N.⁴, Deev R.V.¹^,2^,3
Affiliations:
1. I.I. Mechnikov North-Western State Medical University
2. LLC “Genotarget”
3. “Human Stem Cells Institute”
4. S.M. Kirov Military Medical Academy
Issue: Vol 17, No 2 (2022)
Pages: 6-13
Section: Reviews
URL: https://genescells.ru/2313-1829/article/view/133672
DOI: https://doi.org/10.23868/202209001
ID: 133672

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Abstract

Calpainopathy is the most common form of limb-girdle muscular dystrophy, prevalence in the population is approximately 1 in 15,000–42,700 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 limb–girdle muscular dystrophy.

Keywords

limb-girdle muscular dystrophy type 2A type R1, mutation, genotype, molecular biology, calpainoraty, CAPN3

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