ТРИ ТАКТИКИ ГЕННОЙ ТЕРАПИИ ДВУХ ВРОЖДЕННЫХ ЗАБОЛЕВАНИЙ СЕТЧАТКИ. ОБЗОР

© 2020 г. Е. М. Максимова, П. В. Максимов

Федеральное государственное бюджетное учреждение науки Институт проблем передачи информации им. А.А. Харкевича РАН 127051 Москва, Большой Каретный пер., 19, Россия
maximova@iitp.ru

Поступила в редакцию 02.03.2020 г.

Приведены литературные данные о генетических причинах двух врожденных заболеваний сетчатки – LCA2 и LCA10 (детская прогрессирующая слепота) и о современных способах их лечения. Причиной LCA2 является разрыв зрительного цикла из-за дефекта гена RPE65, экспрессирующегося в клетках пигментного эпителия сетчатки (RPE). Для лечения разработана и применяется усиливающая генная терапия (augmentation therapy): векторное субретинальное введение нормального гена RPE65. LCA10 – цилиопатия, вызванная мутацией гена CEP290, экспрессирующегося в основании связывающей реснички (CC) фоторецептора. Для лечения применяется “антисмысловая” терапия, устраняющая интронную (дефектную) мутацию в молекуле пре-мРНК в процессе синтеза белка CEP290. Рассказано о проекте “BRILLIANCE” – первом испытании прямого редактирования генома методом CRISPR/Cas9 прямо в теле пациента LCA10, анонсированном в номере Nature за 2020 г.

Ключевые слова: сетчатка, пигментный эпителий, RPE65, CEP290, LCA2, LCA10, генная терапия, цилия, редактирование генома, CRISPR/Cas9, сепофарсен

DOI: 10.31857/S0235009220030051

Цитирование для раздела "Список литературы": Максимова Е. М., Максимов П. В. Три тактики генной терапии двух врожденных заболеваний сетчатки. обзор. Сенсорные системы. 2020. Т. 34. № 3. С. 188-200. doi: 10.31857/S0235009220030051
Цитирование для раздела "References": Maximova E. M., Maximov P. V. Tri taktiki gennoi terapii dvukh vrozhdennykh zabolevanii setchatki. obzor [Three tactics for gene therapy of two congenital retinal diseases. review]. Sensornye sistemy [Sensory systems]. 2020. V. 34(3). P. 188-200 (in Russian). doi: 10.31857/S0235009220030051

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