pmedpharmФармация и фармакологияPharmacy & Pharmacology2307-92662413-2241Pyatigorsk Medical and Pharmaceutical Institute - branch of Volgograd State Medical Univer10.19163/2307-9266-2022-10-5-416-431pmedpharm-1192Research ArticleОБЗОРЫ, ЛЕКЦИИREVIEWS, LECTURESКОНВЕНЦИОНАЛЬНЫЕ ПОДХОДЫ К ТЕРАПИИ НАСЛЕДСТВЕННЫХ МИОПАТИЙCONVENTIONAL APPROACHES TO THE THERAPY OF HEREDITARY MYOPATHIEShttps://orcid.org/0000-0002-2761-6249ПокровскийМ. В.PokrovskyM. V.

доктор медицинских наук, профессор кафедры фармакологии и клинической фармакологии, руководитель НИИ фармакологии живых систем, ФГАОУ ВО «Белгородский государственный национальный исследовательский университет» (НИУ «БелГУ»)

308015, Россия, г. Белгород, ул. Победы, д. 85

Doctor of Sciences (Medicine), Professor of the Department of Pharmacology and Clinical Pharmacology, Head of the Research Institute of Pharmacology of Living Systems, Belgorod State National Research University;

85, Pobeda Str., Belgorod, Russia, 308015

mpokrovsky@yandex.ruhttps://orcid.org/0000-0001-5402-0697КорокинМ. В.KorokinM. V.

доктор медицинских наук, доцент, профессор кафедры фармакологии и клинической фармакологии, ФГАОУ ВО «Белгородский государственный национальный исследовательский университет» (НИУ «БелГУ»)

308015, Россия, г. Белгород, ул. Победы, д. 85

Doctor of Medical Sciences, Associate Professor, Professor of the Department of Pharmacology and Clinical Pharmacology, Belgorod State National Research University;

85, Pobeda Str., Belgorod, Russia, 308015

mkorokin@mail.ruhttps://orcid.org/0000-0002-6830-3820КраюшкинаА. М.KrayushkinaA. M.

ассистент кафедры фармакологии и клинической фармакологии, ФГАОУ ВО «Белгородский государственный национальный исследовательский университет» (НИУ «БелГУ»)

308015, Россия, г. Белгород, ул. Победы, д. 85

Assistant of the Department of Pharmacology and Clinical Pharmacology, Belgorod State National Research University;

85, Pobeda Str., Belgorod, Russia, 308015

annkrayushkina98@gmail.comhttps://orcid.org/0000-0002-1969-3615ЖунусовН. С.ZhunusovN. S.

ассистент кафедры фармакологии и клинической фармакологии, ФГАОУ ВО «Белгородский государственный национальный исследовательский университет» (НИУ «БелГУ»)

308015, Россия, г. Белгород, ул. Победы, д. 85

Assistant of the Department of Pharmacology and Clinical Pharmacology, Belgorod State National Research University;

85, Pobeda Str., Belgorod, Russia, 308015

nzhunu@mail.ruhttps://orcid.org/0000-0002-7760-3526ЛапинК. Н.LapinK. N.

научный сотрудник лаборатории экспериментальных исследований НИИ общей реаниматологии имени В.А. Неговского РАН

107031, Россия, г. Москва, ул. Петровка, д. 25, стр. 2

Researcher, Laboratory of Experimental Research, V.A. Negovsky Research Institute of General Reanimatology, Federal Scientific and Clinical Center for Resuscitation and Rehabilitology;

Bld. 2, 25, Petrovka Str., Moscow, Russia, 107031

k.n.lapin@gmail.comhttps://orcid.org/0000-0001-6637-1654СолдатоваМ. О.SoldatovaM. O.

лаборант-исследователь НИИ Популяционной генетики и эпидемиологии ФГБОУ ВО «Курский государственный медицинский университет»

305041, Россия, г. Курск, ул. Карла Маркса, д. 3

laboratory researcher at the Research Institute of Population Genetics and Epidemiology, Kursk State Medical University;

3, Karl Marx Str., Kursk, Russia, 305041

mar.sold46@gmail.comhttps://orcid.org/0000-0003-4098-1125КузьминЕ. А.KuzminE. A.

лаборант кафедры гистологии, эмбриологии и цитологии ФГАОУ ВО «Первый Московский государственный медицинский университет имени И.М. Сеченова»;

11999, Россия, г. Москва, ул. Трубецкая, д. 8, стр. 2

laboratory assistant of the Department of Histology, Embryology and Cytology, Sechenov First Moscow State Medical University;

Bld. 2, 8, Trubetskaya Str., Moscow, Russia, 119991

eg.ku@yandex.ruhttps://orcid.org/0000-0003-0097-000XГудыревО. С.GudyrevO. S.

кандидат медицинских наук, доцент, доцент кафедры фармакологии и клинической фармакологии, ФГАОУ ВО «Белгородский государственный национальный исследовательский университет» (НИУ «БелГУ»)

308015, Россия, г. Белгород, ул. Победы, д. 85

Candidate of Sciences (Medicine), Associate Professor, Associate Professor of the Department of Pharmacology and Clinical Pharmacology, Belgorod State National Research University;

85, Pobeda Str., Belgorod, Russia, 308015

gudyrev@mail.ruhttps://orcid.org/0000-0001-6202-9923КочкароваИ. С.KochkarovaI. S.

младший научный сотрудник НИИ Фармакологии живых систем ФГАОУ ВО «Белгородский государственный национальный исследовательский университет» (НИУ «БелГУ»)

308015, Россия, г. Белгород, ул. Победы, д. 85

Junior Researcher, Research Institute of Pharmacology of Living Systems, Belgorod State National Research University;

85, Pobeda Str., Belgorod, Russia, 308015

kochkarova@bsu.edu.ruhttps://orcid.org/0000-0002-8151-6337ДейкинА. В.DeikinA. V.

кандидат биологических наук, доцент кафедры фармакологии и клинической фармакологии, ФГАОУ ВО «Белгородский государственный национальный исследовательский университет» (НИУ «БелГУ»)

308015, Россия, г. Белгород, ул. Победы, д. 85

Candidate of Sciences (Biology), Associate Professor of the Department of Pharmacology and Clinical Pharmacology, Belgorod State National Research University;

85, Pobeda Str., Belgorod, Russia, 308015

deykin@bsu.edu.ruФедеральное государственное автономное образовательное учреждение высшего образования «Белгородский государственный национальный исследовательский университет»РоссияBelgorod State National Research UniversityRussian FederationНаучно-исследовательский институт общей реаниматологии имени В.А. Неговского Федерального научно-клинического центра реаниматологии и реабилитологииРоссияV.A. Negovsky Research Institute of General Reanimatology, Federal Scientific and Clinical Center for Resuscitation and RehabilitologyRussian FederationФедеральное государственное бюджетное образовательное учреждение высшего образования «Курский государственный медицинский университет» Министерства здравоохранения Российской ФедерацииРоссияKursk State Medical UniversityRussian FederationФедеральное государственное автономное образовательное учреждение высшего образования «Первый Московский государственный медицинский университет имени И.М. Сеченова» Министерства здравоохранения Российской Федерации (Сеченовский Университет)РоссияSechenov First Moscow State Medical University (Sechenov University)Russian Federation202211122022105416431Copyright © Покровский М.В., Корокин М.В., Краюшкина А.М., Жунусов Н.С., Лапин К.Н., Солдатова М.О., Кузьмин Е.А., Гудырев О.С., Кочкарова И.С., Дейкин А.В., 20222022Покровский М.В., Корокин М.В., Краюшкина А.М., Жунусов Н.С., Лапин К.Н., Солдатова М.О., Кузьмин Е.А., Гудырев О.С., Кочкарова И.С., Дейкин А.В.Pokrovsky M.V., Korokin M.V., Krayushkina A.M., Zhunusov N.S., Lapin K.N., Soldatova M.O., Kuzmin E.A., Gudyrev O.S., Kochkarova I.S., Deikin A.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.pharmpharm.ru/jour/article/view/1192Цель

Цель. Проанализировать доступные терапевтические опции для конвенциональной терапии наследственных миопатий.

Материалы и методы

Материалы и методы. При поиске материала для написания обзорной статьи использовали такие реферативные базы данных, как PubMed и Google Scholar. Поиск осуществлялся по публикациям за период с 1980 г. по сентябрь 2022 г. Параметрами для отбора литературы были выбраны следующие слова и их сочетания: “myopathy”, “Duchenne”, “myodystrophy”, “metabolic”, “mitochondrial”, “congenital”, “symptoms”, “replacement”, “recombinant”, “corticosteroids”, “vitamins”, “tirasemtiv”, “therapy”, “treatment”, “evidence”, “clinical trials”, “patients”, “dichloracetate”.

Результаты

Результаты. Врожденные миопатии представляют собой гетерогенную группу патологий, которые вызваны атрофией и дегенерацией мышечных волокон вследствие мутаций в генах. На основании ряда клинических и патогенетических особенностей наследственные миопатии разделяют на: 1) врожденные миопатии; 2) мышечные дистрофии; 3) митохондриальные и 4) метаболические миопатии. При этом, подходы к лечению значительно варьируют в зависимости от типа миопатии и могут быть основаны на 1) замещении мутантного белка; 2) увеличении его экспрессии 3) стимуляции экспрессии внутренних компенсаторных путей; 4) восстановлении баланса соединений, связанных с функцией мутантного белка (для ферментов); 5) воздействии на функцию митохондрий (при метаболических и митохондриальных миопатиях); 6) снижении воспаления и фиброза (при мышечных дистрофиях); а также на 7) увеличении мышечной массы и силы. В текущем обзоре представлены современные данные о каждом из перечисленных подходов, а также конкретные фармакологические агенты с описанием их механизмов действия.

Заключение

Заключение. В настоящее время для лечения разных типов миопатий используются или проходят клинические исследования следующие фармакологические группы: инотропные, противовоспалительные и антифибротические препараты, антимиостатиновая терапия и препараты, способствующие трансляции через стоп-кодоны (применима при нонсенс-мутациях). Кроме того, для лечения миопатий могут быть применены метаболические препараты, кофакторы метаболических ферментов, стимуляторы митохондриального биогенеза и антиоксиданты. Наконец, клинически одобрены рекомбинантные препараты алглюкозидаза и авалглюкозидаза для заместительной терапии метаболических миопатий (болезнь Помпе).

The aim of the work was to analyze the available therapeutic options for the conventional therapy of hereditary myopathies.

Materials and methods

Materials and methods. When searching for the material for writing a review article, such abstract databases as PubMed and Google Scholar were used. The search was carried out on the publications during the period from 1980 to September 2022. The following words and their combinations were selected as parameters for the literature selection: “myopathy”, “Duchenne”, “myodystrophy”, “metabolic”, “mitochondrial”, “congenital”, “symptoms”, “replacement”, “recombinant”, “corticosteroids”, “vitamins”, “tirasemtiv”, “therapy”, “treatment”, “evidence”, “clinical trials”, “patients”, “dichloracetate”.

Results

Results. Congenital myopathies are a heterogeneous group of pathologies that are caused by atrophy and degeneration of muscle fibers due to mutations in genes. Based on a number of clinical and pathogenetic features, hereditary myopathies are divided into: 1) congenital myopathies; 2) muscular dystrophy; 3) mitochondrial and 4) metabolic myopathies. At the same time, treatment approaches vary significantly depending on the type of myopathy and can be based on 1) substitution of the mutant protein; 2) an increase in its expression; 3) stimulation of the internal compensatory pathways expression; 4) restoration of the compounds balance associated with the mutant protein function (for enzymes); 5) impact on the mitochondrial function (with metabolic and mitochondrial myopathies); 6) reduction of inflammation and fibrosis (with muscular dystrophies); as well as 7) an increase in muscle mass and strength. The current review presents current data on each of the listed approaches, as well as specific pharmacological agents with a description of their action mechanisms.

Conclusion

Conclusion. Currently, the following pharmacological groups are used or undergoing clinical trials for the treatment of various myopathies types: inotropic, anti-inflammatory and antifibrotic drugs, antimyostatin therapy and the drugs that promote translation through stop codons (applicable for nonsense mutations). In addition, metabolic drugs, metabolic enzyme cofactors, mitochondrial biogenesis stimulators, and antioxidants can be used to treat myopathies. Finally, the recombinant drugs alglucosidase and avalglucosidase have been clinically approved for the replacement therapy of metabolic myopathies (Pompe’s disease).

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The authors declare that there are no conflicts of interest present.