References

helmholtzeyeinstitute

Российский офтальмологический журнал

Russian Ophthalmological Journal

2072-00762587-5760

Real time Publishers

10.21516/2072-0076-2021-14-1-80-88

helmholtzeyeinstitute-588

Research Article

ОБЗОРЫ ЛИТЕРАТУРЫ

REVIEWS

Особенности патофизиологии зрительного цикла, каскада и метаболических путей при пигментном ретините

Pathophysiological features of the visual cycle, cascade and metabolic pathways in retinitis pigmentosa

Винер

М. Е.

Weener

M. E.

Марианна Евгеньевна Винер — кандидат медицинских наук, руководитель.

Ленинградский проспект, 47/3-3, Москва, 125167

Marianna E. Weener — Cand. of Med. Sci., head.

47/3-3, Leningradsky Prospekt, Moscow, 125167

info@oftalmic.ru

Атарщиков

Д. С.

Atarshchikov

D. S.

Дмитрий Сергеевич Атарщиков — кандидат медицинских наук, врач-офтальмолог.

Ул. Маршала Тимошенко, д. 15, Москва, 121359

Dmitry S. Atarshchikov — Cand. of Med. Sci., ophthalmologist.

15, Marshala Timoshenko st., Moscow, 121359

Кадышев

В. В.

Kadyshev

V. V.

Виталий Викторович Кадышев — кандидат медицинских наук, врач-офтальмолог, генетик.

Ул. Москворечье, д. 1, Москва, 115522

Vitaly V. Kadyshev — Cand. of Med. Sci., ophthalmogeneticist.

1, Moskvorechie st., Moscow, 115522

Зольникова

И. В.

Zolnikova

I. V.

Инна Владимировна Зольникова — доктор медицинских наук, врач-офтальмолог, старший научный сотрудник.

Ул. Садовая-Черногрязская, д. 14/19, Москва, 105062

Inna V. Zolnikova — Dr. of Med. Sci., ophthalmologist, senior research assistant.

14/19, Sadovaya-Chernogryazskaya St., Moscow, 105062

Демчинский

А. М.

Demchinsky

A. M.

Андрей Михайлович Демчинский — кандидат медицинских наук, руководитель медицинских проектов.

Павелецкая наб., д. 2, стр. 3, 115114, Москва

Andrey M. Demchinsky — Cand. of Med. Sci., chief of medical projects.

2, build. 3, Paveletskaya nab., Moscow, 115114

Бар

Д.

Barh

Дебмала Барх — доктор биологических наук, руководитель.

Nonakuri, Purba Medinipur, West Bengal, 721172

Debmalya Barh — PhD, head.

560032 Nonakuri, Purba Medinipur, West Bengal

Балашова

Л. М.

Balashova

L. M.

Лариса Маратовна Балашова — доктор медицинских наук, руководитель.

119034, Москва, ул. Пречистенка, 29/14

Larisa M. Balashova — Dr. of Med. Sci., head.

29/14, Prechistenka St., Moscow, 119034

Салмаси

Ж. М.

Salmasi

J. M.

Жеан Мустафаевич Салмаси — доктор медицинских наук, профессор, заведующий кафедрой.

Ул. Островитянова, д. 1, Москва, 117513

Jean M. Salmasi — Dr. of Med. Sci., professor, head of chair.

1, Ostrovityanova st., Moscow,117513

Офтальмик, ОООРоссияOftalmic LLCRussian Federation

Центральная клиническая больница управления делами Президента РФРоссияCentral Clinical Hospital under President AffairsRussian Federation

ФГБНУ Медико-генетической научный центр им. акад. Н.П. БочковаРоссияResearch Centre for Medical GeneticsRussian Federation

ФГБУ НМИЦ глазных болезней им. Гельмгольца» Минздрава РоссииРоссияHelmholtz National Medical Research Center of Eye DiseasesRussian Federation

АНО Лаборатория Сенсор-ТехРоссияAutonomous nonprofit organization Scientific and industrial laboratory Sensor technology for deafblindRussian Federation

Институт интегральной оптики и прикладной биотехнологии (IIOAB)ИндияCenter for Genomics and Applied Gene Technology, Institute of Integrative Omics and Applied Biotechnology (IIOAB)India

Некоммерческое партнерство Международный научно-практический центр пролиферации тканейРоссияInternational Scientific and Practical Center for the Proliferation of Tissues of RussiaRussian Federation

ФГАОУ ВО Российский национальный исследовательский медицинский университет им. Н.И. Пирогова Минздрава РоссииРоссияRussian N.I. Pirogov National Research Medical UniversityRussian Federation

2021

19032021

1418088

2021

Винер М.Е., Атарщиков Д.С., Кадышев В.В., Зольникова И.В., Демчинский А.М., Бар Д., Балашова Л.М., Салмаси Ж.М.

Weener M.E., Atarshchikov D.S., Kadyshev V.V., Zolnikova I.V., Demchinsky A.M., Barh D., Balashova L.M., Salmasi J.M.

Данная работа распространяется под лицензией Creative Commons Attribution 4.0.

This work is licensed under a Creative Commons Attribution 4.0 License.

https://roj.igb.ru/jour/article/view/588

В представленном обзоре литературы подробно описаны гены и белки, участвующие в патофизиологических процессах при изолированном пигментном ретините (ПР). На сегодняшний день описано 84 гена и 7 генов-кандидатов при несиндромальном ПР. Каждый из этих генов кодирует белок, который играет роль в жизненно важных процессах в сетчатке и/или пигментном эпителии сетчатки, в том числе в каскаде фототрансдукции (передаче зрительного сигнала), зрительном цикле, цилиарном транспорте, окружении ресничек фоторецепторов и интерфоторецепторном матриксе. Идентификация и изучение патофизиологических путей, затронутых при несиндромальном ПР, важны для понимания основного пути патогенеза и разработки подходов к таргетному лечению.

This literature review offers a detailed description of the genes and proteins involved in pathophysiological processes in isolated retinitis pigmentosa (RP). To date, 84 genes and 7 candidate genes have been described for non-syndromic RP. Each of these genes encodes a protein that plays a role in vital processes in the retina and / or retinal pigment epithelium, including the cascade of phototransduction (transmission of the visual signal), the visual cycle, ciliary transport, the environment of photoreceptor cilia and the interphotoreceptor matrix. The identification and study of pathophysiological pathways affected in non-syndromic RP is important for understanding the main pathogenic ways and developing approaches to target treatment.

пигментный ретиниттапеторетинальная абиотрофияпатофизиологиягенетиказрительный циклметаболические пути

retinitis pigmentosatapetoretinal abiotrophypathophysiologygeneticsvisual cyclemetabolic pathways

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