Представлены эпидемиология, клиническая, биохимическая и молекулярно-генетическая характеристика олигосахаридозов — группы редких аутосомно-рецессивных лизосомных болезней накопления, в которые наряду с сиалидозом входят маннозидозы, фукозидоз, аспартилглюкозаминурия и недостаточность α-N-ацетилгалактозаминидазы. Все эти заболевания обусловлены нарушением катаболизма гликопротеинов и избыточным накоплением в лизосомах различных типов олигосахаридов. Клинически они характеризуются прогрессирующими нервно-психическими расстройствами в сочетании с мягким Гурлер-подобным фенотипом. Два генетически гетерогенных варианта альфа- и бета-маннозидоза обусловлены мутациями в генах MAN2B1 и MANBA соответственно и наследственной недостаточностью двух родственных α- и β-маннозидаз. Причиной развития фукозидоза являются инактивирующие мутации в гене FUCA1, приводящие к недостаточности лизосомной α-L-фукозидазы и накоплению фукогликопротеинов и фукогликолипидов. Патогенез аспартилглюкозаминурии связан с нарушением катаболизма аспартилглюкозамина и его накоплением в лизосомах клеток печени, селезенки, щитовидной железы, почек и головного мозга. Причина недостаточности α-N-ацетилгалактозаминидазы — мутации в гене NAGA и накопление в лизосомах нерасщепленных гликоконьюгатов. Приведено описание существующих экспериментальных моделей и обсуждается их роль в изучении патогенеза этих тяжелых лизосомных болезней и разработке различных терапевтических подходов. Наиболее успешной для лечения альфа-маннозидоза оказалась ферментная заместительная терапия c использованием рекомбинантного фермента — велманазы альфа, которая уже прошла III фазу клинических испытаний и используется в клинической практике. Патогенетических методов лечения других обсуждаемых здесь олигосахаридозов не описано, хотя преклинические испытания показали перспективность трансплантации гемопоэтических стволовых клеток и генной терапии для лечения β-маннозидоза и аспартилглюкозаминурии соответственно.

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