Genes & CellsGenes & CellsГены и КлеткиGenes and Cells2313-18292500-2562Human Stem Cells Institute12054210.23868/gc120542ArticlesСтатьиReview ArticleEfficiency of autofibroblasts in surgical treatment of parodontitisДисферлинопатии: возможности диагностики, моделирования и генно-клеточной терапииStarostinaI. GСтаростинаИ. ГSolovyevaV. VСоловьеваВ. ВYuryevaK. SЮрьеваК. СShevchenkoK. GШевченкоК. ГFedotovV. PФедотовВ. ПRizvanovA. AРизвановА. АDeevR. VДеевР. ВIsaevA. AИсаевА. АKazan federal universityКазанский (Приволжский) федеральный университетHuman Stem Cells InstituteИнститут стволовых клеток человекаVoronezh Regional Clinical Hospital № 1Воронежская областная клиническая больница № 11510201383617005012023Copyright ©; 2013, Eco-VectorCopyright ©; 2013, Эко-Вектор2013Eco-VectorЭко-Векторhttps://genescells.ru/2313-1829/article/view/120542

Dysferlinopathies is a group of autosomal-recessive inherited neuromuscular diseases, which are characterized by defect in mRNA expression or in functionioning of dysferlin protein, appearing in about 1/200 000 births. Dysferlin is encoded by DYSF gene (Dystrophy-associated fer-1-like). It's disruption can cause various types of primary dysferlinopathies, which include Miyoshi myopathy (MM), Limb-girdle Muscular Dystrophy type 2B (LGMD2B) and distal myopathy with anterior tibial onset. Also, dysferlin deficiency can be associated with other diseases, such as caveolin- and calpainopathies. Here we discuss dysferlin protein structure and function, it's clinical phenotypes, known animal models and developing treatment strategies for dysferlinopathies.

Дисферлинопатии - группа нервно-мышечных болезней аутосомно-рецессивного типа наследования, при которых происходит нарушение экспрессии мРНК и (или) функции белка дисферлина в скелетной мышечной ткани, что обусловлено мутациями в гене DYSF (англ. dystrophy-associated fer-1-like). Частота заболевания 1:200 000 новорожденных. К дисферлинопатиям относят такие типы заболеваний, как миопатия Миоши (ММ), с первичным поражением дистальных сегментов нижних конечностей, поясно-конечностная мышечная дистрофия типа 2В (ПКМД 2В), в основном с поражением проксимальных сегментов конечностей, дистальная миопатия с первичным поражением передней группы мышц голени, а также вторичные дисферлинопатии, возникающие при кавеолино- и кальпаинопатиях. В настоящем обзоре рассмотрены, структура белка дисферлина, его функции, а также клинические фенотипы, известные экспериментальные модели и стратегические подходы к терапии дисферлинопатий.

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