medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2022.06.16-24medgen-2183Research ArticleНАУЧНЫЙ ОБЗОРREVIEWЛизосомные заболевания и распространенные нейродегенеративные болезни: общность механизмов патогенезаLysosomal diseases and common neurodegenerative diseases: a common mechanism of pathogenesisКистолД. В.KistolD. V.denis1997_97@mail.ruЗахароваЕ. Ю.ZakharovaE. Y.noemail@neicon.ruЦыганковаП. Г.TsygankovaP. G.noemail@neicon.ruФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова»РоссияResearch Centre for Medical GeneticsRussian Federation2022091220222161624Copyright © Кистол Д.В., Захарова Е.Ю., Цыганкова П.Г., 20222022Кистол Д.В., Захарова Е.Ю., Цыганкова П.Г.Kistol D.V., Zakharova E.Y., Tsygankova P.G.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/2183

Лизосомные болезни накопления (ЛБН) представляют собой группу, включающую около 70 заболеваний, характеризующихся дисфункцией лизосом, большинство из которых наследуются аутосомно-рецессивно. Несмотря на то, что каждая нозология сама по себе является довольно редким заболеванием, общая распространенность ЛБН, по разным оценкам, составляет от 1:5 000 до 1:7 500 живых новорожденных, с более высокой частотой в определенных этнических группах (финны, евреи-ашкенази). Накопление макромолекул внутри органелл эндосомно-аутофагической лизосомальной системы рассматривают в качестве основного механизма патогенеза всех ЛБН. В последние десятилетия особый интерес вызывают общие механизмы патогенеза, лежащие в основе развития ЛБН и распространенных нейродегенеративных заболеваний, таких как болезни Альцгеймера, Паркинсона, боковой амиотрофический склероз. В данном обзоре рассмотрены основные общие молекулярно-генетические механизмы, лежащие в основе патогенеза этих двух групп заболеваний. Понимание общности развития этих сходных групп заболеваний позволит по-новому взглянуть на их природу и перспективы медикаментозной терапии.

Lysosomal storage diseases (LSDs) comprise the group of about 70 disorders characterized by lysosomal dysfunction, most of which have autosomal recessive trait of inheritance. Despite the fact that each nosology itself is a rather rare disease, the overall prevalence of LSD ranges from 1:5,000 to 1:7,500 among newborns, with a higher incidence among the population (Finns, Ashkenazi Jews). The accumulation of macromolecules in the organelles of endosomal-autophagic-lysosomal system is considered to be a common link of the pathogenesis for all LSD. Last decade, there has been a particular interest in the common ground of pathogenesis underlying the development of lysosomal diseases and frequent neurodegenerative diseases such as Alzheimer’s disease, Parkinson’s disease, amyotrophic lateral sclerosis. This review we provide the main molecular mechanisms underlying these two human disease groups. Understanding the resemblance of the pathogenesis of theses groups can help for look at their etiology from the other side and open new perspectives on the drug therapy.

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The authors declare that there are no conflicts of interest present.