vavilovВавиловский журнал генетики и селекцииVavilov Journal of Genetics and Breeding2500-3259Institute of Cytology and Genetics of Siberian Branch of the RAS10.18699/VJ20.41-ovavilov-2458Research ArticleГЕНЕТИКА ЧЕЛОВЕКАHUMAN GENETICSРедкий вариант мутации сайта сплайсинга гена, кодирующего глюкокиназу/гексокиназу 4, у пациента с moDY, подтип 2A rare splice site mutation in the gene encoding glucokinase/hexokinase 4 in a patient with MODY type 2https://orcid.org/0000-0002-0403-545XИванощукД. Е.IvanoshchukD. E.

Novosibirsk

dinara2084@mail.ruhttps://orcid.org/0000-0001-6108-1025ШахтшнейдерЕ. В.ShakhtshneiderE. V.https://orcid.org/0000-0002-9669-745XОвсянниковаА. К.OvsyannikovaA. K.https://orcid.org/0000-0002-0897-5473МихайловаС. В.MikhailovaS. V.https://orcid.org/0000-0003-4095-0169РымарО. Д.RymarO. D.https://orcid.org/0000-0001-5893-7726ОблауховаВ. И.OblaukhovaV. I.https://orcid.org/0000-0002-2239-6902ЮрченкоА. А.YurchenkoA. A.https://orcid.org/0000-0001-9425-413XВоеводаМ. И.VoevodaM. I.

Новосибирск

Научно-исследовательский институт терапии и профилактической медицины - филиал Федерального исследовательского центра Институт цитологии и генетики, Сибирское отделение Российской академии наук; Федеральный исследовательский центр Институт цитологии и генетики, Сибирское отделение Российской академии наукРоссияResearch Institute of Internal and Preventive Medicine – Branch of the Institute of Cytology and Genetics of Siberian Branch of the Russian Academy of Sciences; Institute of Cytology and Genetics of Siberian Branch of the Russian Academy of SciencesRussian FederationНаучно-исследовательский институт терапии и профилактической медицины - филиал Федерального исследовательского центра Институт цитологии и генетики, Сибирское отделение Российской академии наукРоссияResearch Institute of Internal and Preventive Medicine – Branch of the Institute of Cytology and Genetics of Siberian Branch of the Russian Academy of SciencesRussian FederationФедеральный исследовательский центр Институт цитологии и генетики, Сибирское отделение Российской академии наукРоссияInstitute of Cytology and Genetics of Siberian Branch of the Russian Academy of SciencesRussian Federation202029052020243299305Copyright © Иванощук Д.Е., Шахтшнейдер Е.В., Овсянникова А.К., Михайлова С.В., Рымар О.Д., Облаухова В.И., Юрченко А.А., Воевода М.И., 20202020Иванощук Д.Е., Шахтшнейдер Е.В., Овсянникова А.К., Михайлова С.В., Рымар О.Д., Облаухова В.И., Юрченко А.А., Воевода М.И.Ivanoshchuk D.E., Shakhtshneider E.V., Ovsyannikova A.K., Mikhailova S.V., Rymar O.D., Oblaukhova V.I., Yurchenko A.A., Voevoda M.I.This work is licensed under a Creative Commons Attribution 4.0 License.https://vavilov.elpub.ru/jour/article/view/2458

В статье рассмотрен вариант развития моногенной формы сахарного диабета (MODY), обусловленный редкой мутацией в гене GCK. Диабет MODY представляет собой сахарный диабет с аутосомно-доми-нантным типом наследования, возникающий в молодом возрасте и проявляющийся в дисфункции в-клеток поджелудочной железы. Этот тип отличается от классических типов сахарного диабета (СД1, СД2) клиническим течением, тактикой лечения и прогнозом для пациента. Клинические проявления MODY гетерогенны и могут различаться даже у представителей одной семьи, носителей одинаковых мутаций. Это обусловлено как сочетанием мутаций в различных генах у индивидуума, так и воздействием внешних факторов. Методом секвенирования нового поколения у пробанда была идентифицирована замена c.580 -1G>A (IVS5 -1G>A, rs1554335421), локализующаяся в акцепторном сайте сплайсинга пятого интрона гена GCK. Обнаруженный вариант сегрегировал с патологическим фенотипом у обследованных членов семьи. Ген GCK кодирует глюкокиназу (гексокиназу 4), которая катализирует первый шаг в различных путях метаболизма глюкозы. Мутации в этом гене ассоциированы с сахарным диабетом взрослого типа у молодых, подтип 2 (MODY2). Заболевание характеризуется незначительным повышением глюкозы натощак, хорошо контролируется медикаментами и отличается низкой распространенностью микро- и макрососудистых осложнений. Представленный в исследовании случай MODY2 выявил клиническую значимость мутации в сайте сплайсинга гена GCK. При возникновении у молодых людей и беременных женщин неклассического сахарного диабета проведение генетического тестирования необходимо для подтверждения диагноза и оптимального выбора тактики и способа лечения.

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