Лизосомные болезни накопления в Европе: проблема нейродегенерации и новые возможности терапевтических воздействий

Реферат

Рассмотрены тенденции изучения лизосомных болезней в Европе, связанные с особым интересом к аутофагии, нейропатологии и новым терапевтическим технологиям. Показано, что торможение аутофагии способствует накоплению аномально свернутых белков, индукции стресса эндоплазматического ретикулума, агрегации белков и формированию признаков нейропатологии. Примером является влияние болезни Гоше (дефект β-глюкоцереброзидазы) на формирование болезни Паркинсона. Синдром лизосомного накопления и старение тормозят активность эндоцитоза и аутофагии. Поэтому в работе представлены пути терапевтических и/или нейропротективных воздействий на усиление собственных защитных механизмов клеток, таких как аутофагия, белки TFEB, Hsp70. Показана возможность частичного предупреждения дефектов скелета активацией аутофагии. Существенный прогресс достигнут в генной терапии лизосомных болезней аденовирус- и лентивирус-ассоцированными генами недостающих ферментов и в их интракраниальном применении для устранения нейропатологии. Рассмотрены и другие пути терапевтических вмешательств.

Тэги

аутофагия, генная терапия, лизосомные болезни накопления, лизосомы, нейродегенерация, фермент-заместительная терапия

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Об авторах (для корреспонденции):

Пупышев А.Б. – к.б.н., старший научный сотрудник ЦНИЛ, e-mail: apupyshev@mail.ru

Полный текст

6-2-2016.pdf

Поступило: 19/05/2016