Conventional approaches to the therapy of hereditary myopathies
- 作者: Pokrovsky M.1, Korokin M.1, Krayushkina A.1, Zhunusov N.1, Lapin K.2, Soldatova M.3, Kuzmin E.4, Gudyrev O.1, Kochkarova I.1, Deikin A.1
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隶属关系:
- Belgorod State National Research University
- V.A. Negovsky Research Institute of General Reanimatology, Federal Scientific and Clinical Center for Resuscitation and Rehabilitology
- Kursk State Medical University
- Sechenov First Moscow State Medical University (Sechenov University)
- 期: 卷 10, 编号 5 (2022)
- 页面: 416-431
- 栏目: REVIEWS
- URL: https://journals.rcsi.science/2307-9266/article/view/252949
- DOI: https://doi.org/10.19163/2307-9266-2022-10-5-416-431
- ID: 252949
如何引用文章
详细
The aim of the work was to analyze the available therapeutic options for the conventional therapy of hereditary myopathies.
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. 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. 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).
作者简介
Mikhail Pokrovsky
Belgorod State National Research University
编辑信件的主要联系方式.
Email: mpokrovsky@yandex.ru
ORCID iD: 0000-0002-2761-6249
Doctor of Sciences (Medicine), Professor of the Department of Pharmacology and Clinical Pharmacology, Head of the Research Institute of Pharmacology of Living Systems
俄罗斯联邦, 85, Pobeda Str., Belgorod, 308015Mikhail Korokin
Belgorod State National Research University
Email: mkorokin@mail.ru
ORCID iD: 0000-0001-5402-0697
Doctor of Medical Sciences, Associate Professor, Professor of the Department of Pharmacology and Clinical Pharmacology
俄罗斯联邦, 85, Pobeda Str., Belgorod, 308015Anastasia Krayushkina
Belgorod State National Research University
Email: annkrayushkina98@gmail.com
ORCID iD: 0000-0002-6830-3820
Assistant of the Department of Pharmacology and Clinical Pharmacology
俄罗斯联邦, 85, Pobeda Str., Belgorod, 308015Nikita Zhunusov
Belgorod State National Research University
Email: nzhunu@mail.ru
ORCID iD: 0000-0002-1969-3615
Assistant of the Department of Pharmacology and Clinical Pharmacology
俄罗斯联邦, 85, Pobeda Str., Belgorod, 308015Konstantin Lapin
V.A. Negovsky Research Institute of General Reanimatology, Federal Scientific and Clinical Center for Resuscitation and Rehabilitology
Email: k.n.lapin@gmail.com
ORCID iD: 0000-0002-7760-3526
Researcher, Laboratory of Experimental Research
俄罗斯联邦, Bld. 2, 25, Petrovka Str., Moscow, 107031Maria Soldatova
Kursk State Medical University
Email: mar.sold46@gmail.com
ORCID iD: 0000-0001-6637-1654
laboratory researcher at the Research Institute of Population Genetics and Epidemiology
俄罗斯联邦, 3, Karl Marx Str., Kursk, 305041Egor Kuzmin
Sechenov First Moscow State Medical University (Sechenov University)
Email: eg.ku@yandex.ru
ORCID iD: 0000-0003-4098-1125
laboratory assistant of the Department of Histology
俄罗斯联邦, Bld. 2, 8, Trubetskaya Str., Moscow, 119991Oleg Gudyrev
Belgorod State National Research University
Email: gudyrev@mail.ru
ORCID iD: 0000-0003-0097-000X
Candidate of Sciences (Medicine), Associate Professor, Associate Professor of the Department of Pharmacology and Clinical Pharmacology
俄罗斯联邦, 85, Pobeda Str., Belgorod, 308015Indira Kochkarova
Belgorod State National Research University
Email: kochkarova@bsu.edu.ru
ORCID iD: 0000-0001-6202-9923
Junior Researcher, Research Institute of Pharmacology of Living Systems
俄罗斯联邦, 85, Pobeda Str., Belgorod, 308015Aleksey Deikin
Belgorod State National Research University
Email: deykin@bsu.edu.ru
ORCID iD: 0000-0002-8151-6337
Candidate of Sciences (Biology), Associate Professor of the Department of Pharmacology and Clinical Pharmacology
俄罗斯联邦, 85, Pobeda Str., Belgorod, 308015参考
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