Genes & CellsGenes & CellsГены и КлеткиGenes and Cells2313-18292500-2562Human Stem Cells Institute12036810.23868/gc120368ArticlesСтатьиReview ArticleGeneand cell-based therapy of muscle system hereditary disorders: state-of-artГЕННО-КЛЕТОЧНАЯ ТЕРАПИЯ НАСЛЕДСТВЕННЫХ ЗАБОЛЕВАНИИ мышечной системы: современное состояние вопросаDeevR. VДеевР. ВMavlikeevM. OМавликеевМ. ОBozoI. YaБозоИ. ЯPulinA. AПулинА. АEreminI. IЕреминИ. ИHuman Stem Cell InstituteИнститут стволовых клеток человекаKazan (Volga Region) Federal UniversityКазанский (Приволжский) федеральный университетA.I. Evdokimov Moscow State University of Medicine and DentistryМосковский государственный медико-стоматологический университет им. А. И. ЕвдокимоваA.I. Burnasyan Federal Medical Biophysical CenterФедеральный медицинский биофизический центр им. А.И. Бурназяна ФМБА1512201494VOL 9, NO4 (2014)ТОМ 9, №4 (2014)63305012023Copyright ©; 2014, Eco-VectorCopyright ©; 2014, Эко-Вектор2014Eco-VectorЭко-Векторhttps://genescells.ru/2313-1829/article/view/120368

Genetic disorders primarily affecting skeletal muscles can be caused by dysfunction of more than 30 genes. To date there is no effective etiotropic and pathogenetic treatment of such disorders. Investigators focus on search for new therapeutic agents based on gene and cell technologies, small molecules as well. There are numerous preclinical and several dozens of clinical studies in the world. Unfortunately tested technologies did not lead to significant advance in treatment of patients with such disorders. At the same time resulting data allow to determine the most feasible directions of future development - combining of genome correction methods with cell delivery of corrected genome to skeletal muscles. This review is intended to give general information about etiology of skeletal muscles genetic disorders, the main directions of biotechnological development and results of the clinical studies.

Генетические заболевания, приводящие к первичному поражению скелетной мышечной ткани, могут быть обусловлены дисфункцией более чем 30 генов. Сегодня не существует эффективных способов их этиотропного и патогенетического лечения. Исследователи сосредотачивают свои усилия на поиске новых терапевтических средств, относящихся к генным и клеточным технологиям, а также использованию малых молекул. В мире проведен большой пул доклинических исследований, а также выполнены несколько десятков клинических исследований. К сожалению, испытанные технологии пока не привели к существенному прогрессу в лечении пациентов с данными заболеваниями. Вместе с тем, полученные данные позволяют определить наиболее целесообразные направления дальнейших разработок - совмещение методик коррекции генома с клеточной доставкой исправленного генома в скелетную мышечную ткань. Настоящий обзор призван дать общие представления об этиологии генетических заболеваний мышц скелета, основных направлениях биотехнологических разработок и результатах выполненных клинических исследований.

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