CONVENTIONAL APPROACHES TO THE THERAPY OF HEREDITARY MYOPATHIES
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 o...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | Russian |
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Volgograd State Medical University, Pyatigorsk Medical and Pharmaceutical Institute
2022-12-01
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| Series: | Фармация и фармакология (Пятигорск) |
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| Online Access: | https://www.pharmpharm.ru/jour/article/view/1192 |
| _version_ | 1826559336688648192 |
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| author | M. V. Pokrovsky M. V. Korokin A. M. Krayushkina N. S. Zhunusov K. N. Lapin M. O. Soldatova E. A. Kuzmin O. S. Gudyrev I. S. Kochkarova A. V. Deikin |
| author_facet | M. V. Pokrovsky M. V. Korokin A. M. Krayushkina N. S. Zhunusov K. N. Lapin M. O. Soldatova E. A. Kuzmin O. S. Gudyrev I. S. Kochkarova A. V. Deikin |
| author_sort | M. V. Pokrovsky |
| collection | DOAJ |
| description | 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). |
| first_indexed | 2024-04-10T01:35:50Z |
| format | Article |
| id | doaj.art-4f82cc5f5b72416ca8cff00563a7bc91 |
| institution | Directory Open Access Journal |
| issn | 2307-9266 2413-2241 |
| language | Russian |
| last_indexed | 2025-03-14T08:58:46Z |
| publishDate | 2022-12-01 |
| publisher | Volgograd State Medical University, Pyatigorsk Medical and Pharmaceutical Institute |
| record_format | Article |
| series | Фармация и фармакология (Пятигорск) |
| spelling | doaj.art-4f82cc5f5b72416ca8cff00563a7bc912025-03-02T12:43:16ZrusVolgograd State Medical University, Pyatigorsk Medical and Pharmaceutical InstituteФармация и фармакология (Пятигорск)2307-92662413-22412022-12-0110541643110.19163/2307-9266-2022-10-5-416-431454CONVENTIONAL APPROACHES TO THE THERAPY OF HEREDITARY MYOPATHIESM. V. Pokrovsky0M. V. Korokin1A. M. Krayushkina2N. S. Zhunusov3K. N. Lapin4M. O. Soldatova5E. A. Kuzmin6O. S. Gudyrev7I. S. Kochkarova8A. V. Deikin9Belgorod State National Research UniversityBelgorod State National Research UniversityBelgorod State National Research UniversityBelgorod State National Research UniversityV.A. Negovsky Research Institute of General Reanimatology, Federal Scientific and Clinical Center for Resuscitation and RehabilitologyKursk State Medical UniversitySechenov First Moscow State Medical University (Sechenov University)Belgorod State National Research UniversityBelgorod State National Research UniversityBelgorod State National Research UniversityThe 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).https://www.pharmpharm.ru/jour/article/view/1192hereditary myopathiesduchenne’s muscle dystrophymetabolic therapypharmacological correction |
| spellingShingle | M. V. Pokrovsky M. V. Korokin A. M. Krayushkina N. S. Zhunusov K. N. Lapin M. O. Soldatova E. A. Kuzmin O. S. Gudyrev I. S. Kochkarova A. V. Deikin CONVENTIONAL APPROACHES TO THE THERAPY OF HEREDITARY MYOPATHIES Фармация и фармакология (Пятигорск) hereditary myopathies duchenne’s muscle dystrophy metabolic therapy pharmacological correction |
| title | CONVENTIONAL APPROACHES TO THE THERAPY OF HEREDITARY MYOPATHIES |
| title_full | CONVENTIONAL APPROACHES TO THE THERAPY OF HEREDITARY MYOPATHIES |
| title_fullStr | CONVENTIONAL APPROACHES TO THE THERAPY OF HEREDITARY MYOPATHIES |
| title_full_unstemmed | CONVENTIONAL APPROACHES TO THE THERAPY OF HEREDITARY MYOPATHIES |
| title_short | CONVENTIONAL APPROACHES TO THE THERAPY OF HEREDITARY MYOPATHIES |
| title_sort | conventional approaches to the therapy of hereditary myopathies |
| topic | hereditary myopathies duchenne’s muscle dystrophy metabolic therapy pharmacological correction |
| url | https://www.pharmpharm.ru/jour/article/view/1192 |
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