Genes & CellsGenes & CellsГены и КлеткиGenes and Cells2313-18292500-2562Human Stem Cells Institute13367210.23868/202209001ReviewsНаучные обзорыReview ArticleMolecular and genetic features of calpainopathyМолекулярно-генетические особенности кальпаинопатииMkrtchyanL. A.МкртчянЛ. А.
Russian Federation
lilitmkrtch@yandex.ruSlesarenkoY. S.СлесаренкоЯ. С.
Russian Federation
lilitmkrtch@yandex.ruYakovlevI. A.ЯковлевИ. А.
Russian Federation
lilitmkrtch@yandex.ruBardakovS. N.БардаковС. Н.
Russian Federation
lilitmkrtch@yandex.ruDeevR. V.ДеевР. В.
Russian Federation
lilitmkrtch@yandex.ruI.I. Mechnikov North-Western State Medical UniversityСеверо-Западный государственный медицинский университет им. И.И. МечниковаLLC “Genotarget”ООО «Генотаргет»“Human Stem Cells Institute”ПАО «Институт стволовых клеток человека»S.M. Kirov Military Medical AcademyВоенно-медицинская академия им. С.М. Кирова250920221726132401202324012023Copyright ©; 2022, Eco-VectorCopyright ©; 2022, Эко-Вектор2022Eco-VectorЭко-Векторhttps://genescells.ru/2313-1829/article/view/133672

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.

Кальпаинопатия — наиболее распространенная форма поясно-конечностной прогрессирующей мышечной дистрофии, которая встречается, в среднем, в 1 случае на 15 000–42 700 населения. В Российской Федерации проведено недостаточное количество исследований, изучающих распространенность кальпаинопатии среди пациентов с поясно-конечностными прогрессирующими мышечными дистрофиями, но по имеющимся данным, приблизительно в 43% случаев заболевание связано с мутациями гена CAPN3. Молекулярно-генетический анализ является основным методом, позволяющим достоверно поставить диагноз пациенту. Исследования свидетельствуют о многих патогенных мутациях, вызывающих кальпаинопатию с соответствующими фенотипами, однако, довольно трудно установить четкие корреляции между генотипом и фенотипом из-за высокой вариабельности симптомов и тяжести, даже среди пациентов с одними и теми же мутациями гена CAPN3. В настоящее время не существует эффективных этиотропных методов лечения поясно-конечностных прогрессирующих мышечных дистрофий, но разрабатываются новые технологии для улучшения состояния и качества жизни пациентов с кальпаинопатией. В обзоре собраны данные исследований о распространенности кальпаинопатии в различных странах; описаны основные молекулярно-генетические особенности гена CAPN3 и белка кальпаина-3. Проанализированные данные в дальнейшем позволят разработать варианты лечения пациентов с поясно-конечностными миодистрофиями.

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