Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press62110.17650/2222-8721-2024-14-3-72-80LECTURES AND REVIEWSЛЕКЦИИ И ОБЗОРЫMolecular mechanism of neurodegeneration in spinal muscular atrophyМолекулярные механизмы нейродегенерации при спинальной мышечной атрофииhttps://orcid.org/0000-0003-3727-8017VlasenkoA. I.ВласенкоА. И.
Russian Federation

2 Akkuratova St., Saint Petersburg 197341

197341 Санкт-Петербург, ул. Аккуратова, 2

https://orcid.org/0000-0002-9354-8790NazarovV. D.НазаровВ. Д.
Russian Federation

Vladimir Dmitrievich Nazarov

6–8 Lva Tolstogo St., Saint Petersburg 197022

Владимир Дмитриевич Назаров

197022 Санкт-Петербург, ул. Льва Толстого, 6–8

nazarov19932@mail.ruhttps://orcid.org/0000-0002-4998-3699LapinS. V.ЛапинС. В.
Russian Federation

6–8 Lva Tolstogo St., Saint Petersburg 197022

https://orcid.org/0000-0002-3055-6507MazingA. V.МазингА. В.
Russian Federation

6–8 Lva Tolstogo St., Saint Petersburg 197022

https://orcid.org/0000-0001-8503-0759SurkovaE. A.СурковаЕ. А.
Russian Federation

6–8 Lva Tolstogo St., Saint Petersburg 197022

https://orcid.org/0000-0003-4896-3319BlinovaT. V.БлиноваТ. В.
Russian Federation

6–8 Lva Tolstogo St., Saint Petersburg 197022

https://orcid.org/0000-0002-0175-3085TopuzovaM. P.ТопузоваМ. П.
Russian Federation

2 Akkuratova St., Saint Petersburg 197341

197341 Санкт-Петербург, ул. Аккуратова, 2

https://orcid.org/0000-0002-4441-1165AlekseevaT. M.АлексееваТ. М.
Russian Federation

2 Akkuratova St., Saint Petersburg 197341

197341 Санкт-Петербург, ул. Аккуратова, 2

V.A. Almazov National Medical Research Center, Ministry of Health of RussiaФГБУ «Национальный медицинский исследовательский центр им. В.А. Алмазова» Минздрава РоссииI.P. Pavlov First Saint Petersburg State Medical University, Ministry of Health of RussiaФГБОУ ВО «Первый Санкт-Петербургский государственный медицинский университет им. акад. И.П. Павлова» Минздрава России1809202414372801809202418092024Copyright ©; 2024, Vlasenko A.I., Nazarov V.D., Lapin S.V., Mazing A.V., Surkova E.A., Blinova T.V., Topuzova M.P., Alekseeva T.M.Copyright ©; 2024, Власенко А.И., Назаров В.Д., Лапин С.В., Мазинг А.В., Суркова Е.А., Блинова Т.В., Топузова М.П., Алексеева Т.М.2024Vlasenko A.I., Nazarov V.D., Lapin S.V., Mazing A.V., Surkova E.A., Blinova T.V., Topuzova M.P., Alekseeva T.M.Власенко А.И., Назаров В.Д., Лапин С.В., Мазинг А.В., Суркова Е.А., Блинова Т.В., Топузова М.П., Алексеева Т.М.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/621

In the last decade, pathogenetic methods for the treatment of spinal muscular atrophy 5q have been developed. These include increased expression of the SMN2 gene, correction of SMN2 splicing, or reexpression of the SMN1 gene. Despite the comprehension of the genetic causes of the disease and the existence of therapies, it is still not completely known which molecular mechanisms in SMN protein deficiency lead to the degeneration of motor neurons. Understanding the molecular pathways involved in the loss of motor neurons may help develop new therapeutic strategies. The article presents genetic and biochemical data that reveal the molecular mechanisms of neurodegeneration in spinal muscular atrophy 5q.

В последнее десятилетие были разработаны патогенетические методы терапии спинальной мышечной атрофии 5q, использующие разные стратегии, в том числе увеличение экспрессии гена SMN2, коррекцию сплайсинга SMN2 или реэкспрессию гена SMN1. Несмотря на понимание генетических причин заболевания и имеющиеся методы терапии, до сих пор не до конца известно, какие молекулярные механизмы при дефиците белка SMN приводят к дегенерации моторных нейронов. Понимание молекулярных путей, вовлеченных в потерю двигательных нейронов, может помочь в разработке новых терапевтических стратегий. В статье приводятся генетические и биохимические данные, раскрывающие молекулярные механизмы нейродегенерации при спинальной мышечной атрофии 5q.

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