Ecological geneticsEcological geneticsЭкологическая генетика1811-09322411-9202Eco-Vector1632710.17816/ecogen16327Human ecological geneticsЭкологическая генетика человекаResearch ArticleHuman diseases associated with NTE geneЗаболевания человека, ассоциированные с геном NTEMelentevPavel A.МелентьевПавел Алексеевич
Russian Federation

PhD student. Laboratory of Experimental and Applied Genetics

аспирант, лаборатория экспериментальной и прикладной генетики

melentev_pa@pnpi.nrcki.ruAgranovichOlga E.АграновичОльга Евгеньевна
Russian Federation

Doctor of Medicine, Head of Artrogriposis Department, Orthopedic Trauma Surgeon

д-р мед. наук, руководитель отделения артрогрипоза, врач травматолог-ортопед

olga_agranovich@yahoo.comSarantsevaSvetlana V.СаранцеваСветлана Владимировна
Russian Federation

Doctor of Science, Head of Laboratory of Experimental and Applied Genetics, Deputy Director for Science. Petersburg Nuclear Physics Institute named by B.P. Konstantinov of NRC

д-р биол. наук, заведующая лабораторией экспериментальной и прикладной генетики, заместитель директора по научной работе

sarantseva_sv@pnpi.nrcki.ruPetersburg Nuclear Physics Institute named by B.P. Konstantinov of NRC “Kurchatov Institute”Федеральное государственное бюджетное учреждение «Петербургский институт ядерной физики им. Б.П. Константинова» Национального исследовательского центра «Курчатовский институт»Turner Scientific Research Institute for Children’s OrthopedicsФедеральное государственное бюджетное учреждение «Национальный медицинский исследовательский центр детской травматологии и ортопедии им. Г.И. Турнера» Министерства здравоохранения Российской Федерации14042020080720201822292420410201906032020Copyright ©; 2020, Melentev P.A., Agranovich O.E., Sarantseva S.V.Copyright ©; 2020, Мелентьев П.А., Агранович О.Е., Саранцева С.В.2020Melentev P.A., Agranovich O.E., Sarantseva S.V.Мелентьев П.А., Агранович О.Е., Саранцева С.В.http://creativecommons.org/licenses/by/4.0https://journals.eco-vector.com/ecolgenet/article/view/16327

Evolutionary conserved NTE gene is important for survival and functioning of nervous system cells, its dysfunction leads to various pathologies. Here we describe characteristics of different disorders induced by NTE protein activity inhibition (OPIDN) or by NTE gene mutations: hereditary spastic paraplegia (SPG39), Boucher – Neuhaüser, Gordon Holmes, Laurence – Moon, Oliver – McFarlane syndromes, Leber congenital amaurosis, pure cerebellar ataxia. Current review summarises accumulated data about clinical features of NTE associated diseases, presenting them in a historical way of biomedical studies, and observes molecular and genetic causes of these disorders.

Эволюционно консервативный ген NTE играет важную роль в поддержании жизнеспособности и функционирования клеток нервной системы, а нарушение его работы приводит к различным патологиям. В работе рассмотрены характерные черты различных болезней, как вызванных ингибированием активности белка NTE (OPIDN), так и обусловленных мутациями в гене NTE: наследственная спастическая параплегия (форма SPG39), синдромы Boucher – Neuhaüser, Gordon Holmes, Laurence – Moon, Oliver – McFarlane, врожденный амавроз Лебера, чистая мозжечковая атаксия. Обзор обобщает накопленные данные о клинической картине заболеваний человека, ассоциированных с геном NTE, представляя их в историческом аспекте медико-биологических исследований, и рассматривает молекулярно-генетические закономерности этиологии этих болезней.

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