Inherited progressive limb-girdle muscular dystrophy type 2A (calpainopathy): a review of literature

Grishina, D. A.; Супонева, Н. А.; Шведков, В.В.; Белопасова, А. В.

doi:10.17650/2222-8721-2015-1-25-34

Cited by 3 publications

References 46 publications

(71 reference statements)

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Chronic alcohol intoxication is not accompanied by an increase in calpain proteolytic activity in cardiac muscle of rats

Gritsyna

Salmov

Bobylev

et al. 2017

Biochemistry Moscow

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Enzymatic activity of Ca2+-dependent calpain proteases as well as the content and gene expression of μ-calpain (activated by micromolar calcium ion concentrations), calpastatin (inhibitor of calpains), and titin (substrate for calpains) were investigated in cardiac muscles of rats subjected to chronic alcoholization for 3 and 6 months. There was no increase in the "heart weight/body weight" parameter indicating development of heart hypertrophy in the alcoholized rats, while a decreasing trend was observed for this parameter in the rats after 6-month modeling of alcoholic cardiomyopathy, which indicated development of atrophic changes in the myocardium. Fluorometric measurements conducted using the Calpain Activity Assay Kit did not reveal any changes in total calpain activity in protein extracts of cardiac muscles of the rats alcoholized for 3 and 6 months. Western blot analysis did not show reliable changes in the contents of μ-calpain and calpastatin, and SDS-PAGE did not reveal any decrease in the titin content in the myocardium of rats after the chronic alcohol intoxication. Autolysis of μ-calpain was also not verified, which could indicate that proteolytic activity of this enzyme in myocardium of chronically alcoholized rats is not enhanced. Using Pro-Q Diamond staining, changes in phosphorylation level of titin were not detected in cardiac muscle of rats after chronic alcoholization during three and six months. A decrease in µ-calpain and calpastatin mRNA content (~1.3-fold, p ≤ 0.01 and ~1.9-fold, p ≤ 0.01, respectively) in the myocardium of rats alcoholized for 3 months and decrease in calpastatin mRNA (~1.4-fold, p ≤ 0.01) in animals alcoholized for 6 months was demonstrated using real-time PCR. These results indicate negative effect of chronic alcohol intoxication on expression of the abovementioned genes.

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Chronic alcohol intoxication is not accompanied by an increase in calpain proteolytic activity in cardiac muscle of rats

Gritsyna

Salmov

Bobylev

et al. 2017

Biochemistry Moscow

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Molecular and genetic features of calpainopathy

et al. 2022

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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.

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Конечностно-Поясная Мышечная Дистрофия 2А Типа (Фенотип Лейдена – Мебиуса)с Компаунд-Гетерозиготной Мутацией В 4-М Экзоне Гена CAPN3: Собственное Наблюдение

Рушкевич,

Мальгина,

Куликова

et al. 2020

Неврология И Нейрохирургия. Восточная Европа

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В статье приведено описание собственного наблюдения генетически подтвержденного случая конечностно-поясной мышечной дистрофии (КПМД) 2А типа (фенотип Лейдена – Мебиуса). По клиническим признакам различные типы КПМД крайне трудно дифференцировать между собой. КПМД являются примером, когда мутации разных генов, локализованных в разных хромосомах, кодирующих разные белки, приводят к развитию сходных клинических фенотипов. Кальпаинопатия является наиболее распространенной формой КПМД и характеризуется значительным клиническим полиморфизмом и тяжестью заболевания. Установить точный диагноз позволяет молекулярно-генетическое исследование, которое должно быть рекомендовано в случае наличия типичных клинических проявлений, а также при выявлении высоких цифр сывороточной креатининфосфокиназы. В последнее десятилетие достигнуты значительные успехи в изучении молекулярных механизмов наследственных нервно-мышечных заболеваний. Важным аспектом является вопрос планирования детей и необходимость молекулярно-генетического исследования супругов пациентов для оценки риска рождения больного ребенка. The article describes own observation of a genetically confirmed limb-girdle muscular dystrophy type 2A (Leiden- Möbius phenotype). According to clinical signs, various types of CPMD are extremely difficult to differentiate between themselves. LGMD’s are an example where mutations of different genes located in different chromosomes encoding different proteins lead to the development of similar clinical phenotypes. Calpainopathy is the most common form of LGMD and is characterized by significant clinical polymorphism and severity of the disease. It is possible to establish an accuratediagnosis of molecular genetic study, which should be recommended in case of typical clinical manifestations, as well as in case of detection of high figures of serum CK. Significant advances have been made over the past decade in the study of the molecular mechanisms of hereditary neuromuscular diseases. An important aspect is child planning issues and the need for molecular genetic research of patient spouses to assess the risk of having a sick child.

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Inherited progressive limb-girdle muscular dystrophy type 2A (calpainopathy): a review of literature

Cited by 3 publications

References 46 publications

Chronic alcohol intoxication is not accompanied by an increase in calpain proteolytic activity in cardiac muscle of rats

Chronic alcohol intoxication is not accompanied by an increase in calpain proteolytic activity in cardiac muscle of rats

Molecular and genetic features of calpainopathy

Конечностно-Поясная Мышечная Дистрофия 2А Типа (Фенотип Лейдена – Мебиуса)с Компаунд-Гетерозиготной Мутацией В 4-М Экзоне Гена CAPN3: Собственное Наблюдение

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