Аномальная активность сигнального пути mTOR в расстройствах аутистического спектра: возможности механизмобоснованной терапии

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Аннотация

Расстройства аутистического спектра (РАС) ‒ это патология развития, характеризующаяся ранним возникновением проблем в коммуникации, обучении и поведении. Синдромная форма РАС обусловлена моногенными мутациями. В том случае, когда не удается найти генетических или других известных механизмов для объяснения причин расстройства, используют термин “идиопатический аутизм”. Значительная часть случаев как синдромного, так и идиопатического аутизма связана с дерегуляцией трансляции, зависящей от механистической мишени рапамицина ‒ mTOR. В этом обзоре мы представляем как биоинформатические, так и экспериментальные данные, которые связывают сигнальный путь mTOR с аутизмом, спровоцированным материнскими аутоантителами, и детскими аутоиммунными нейропсихиатрическими расстройствами, такими как хорея Сиденгама и детское аутоиммунное нейропсихиатрическое расстройство, ассоциированное со стрептококковой инфекцией (PANDAS). Также мы обсуждаем необходимость субтипирования РАС и возможности механизмобоснованной терапии ингибиторами сигнального пути mTOR.

Об авторах

Е. А. Трифонова

Институт цитологии и генетики Сибирского отделения Российской академии наук

Автор, ответственный за переписку.
Email: trifonova.k@rambler.ru
Россия, 630090, Новосибирск

А. А. Котлярова

Институт клинической и экспериментальной лимфологии – филиал Института цитологии и генетики
Сибирского отделения Российской академии наук

Email: trifonova.k@rambler.ru
Россия, 630117, Новосибирск

А. В. Кочетов

Институт цитологии и генетики Сибирского отделения Российской академии наук; Новосибирский государственный университет

Email: trifonova.k@rambler.ru
Россия, 630090, Новосибирск; Россия, 630090, Новосибирск

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© Е.А. Трифонова, А.А. Котлярова, А.В. Кочетов, 2023