medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLCmedgen-220Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHФенотипические проявления митохондриальных заболеваний, обусловленных мутациями в гене SCO2The phenotypic manifestations of mitochondrial diseases caused by mutations in SCO2 geneИткисЮ. С.ItkisYu. S.noemail@neicon.ruБычковИ. О.BychkovI. O.noemail@neicon.ruМихайловаС. В.MikhailovaS. V.noemail@neicon.ruИльинаЕ. С.IlinaE. S.noemail@neicon.ruНикитинВ. В.NikitinV. V.noemail@neicon.ruКолпакчиЛ. М.KolpakchiL. M.noemail@neicon.ruФедонюкИ. Д.FedonyukI. D.noemail@neicon.ruЗотинаЕ. И.ZotinaE. I.noemail@neicon.ruПичкурН. А.PichkurN. A.noemail@neicon.ruЦыганковаП. Г.TsygankovaP. G.noemail@neicon.ruЗахароваЕ. Ю.ZakharovaE. Yu.noemail@neicon.ruМедико-генетический научный центрРоссияResearch Centre for Medical GeneticsRussian FederationРоссийская детская клиническая больницаРоссияRussian Child Clinical HospitalRussian FederationДетская городская клиническая больница им. З.А. Башляевой Департамента здравоохранения МосквыРоссияChild Clinical City Hospital, named Z.A. BashlyaevaRussian FederationКраевая детская клиническая больница №1РоссияRegional Child Clinical Hospital №1Russian FederationНациональная детская специализированная больница «ОХМАТДЕТ»РоссияThe National Children’s Specialized Hospital «OKHMATDET»Russian Federation2017180420171623036Copyright © Иткис Ю.С., Бычков И.О., Михайлова С.В., Ильина Е.С., Никитин В.В., Колпакчи Л.М., Федонюк И.Д., Зотина Е.И., Пичкур Н.А., Цыганкова П.Г., Захарова Е.Ю., 20172017Иткис Ю.С., Бычков И.О., Михайлова С.В., Ильина Е.С., Никитин В.В., Колпакчи Л.М., Федонюк И.Д., Зотина Е.И., Пичкур Н.А., Цыганкова П.Г., Захарова Е.Ю.Itkis Y.S., Bychkov I.O., Mikhailova S.V., Ilina E.S., Nikitin V.V., Kolpakchi L.M., Fedonyuk I.D., Zotina E.I., Pichkur N.A., Tsygankova P.G., Zakharova E.Y.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/220

Митохондриальные заболевания характеризуются значительным клиническим разнообразием и генетической гетерогенностью. Среди этих болезней существенную долю занимают заболевания с манифестацией в неонатальном периоде и в раннем детском возрасте. В клинической картине таких больных отмечаются разнообразные неврологические и соматические симптомы. Причинами митохондриальных заболеваний являются мутации как в митохондральной ДНК (мтДНК), так и в ядерных генах, контролирующих процессы окислительного фосфорилирования. В статье приводится анализ данных литературы и клиническое описание 5 пациентов с мутациями в гене SCO2 , выявленных в результате проведения таргетного секвенирования 62 ядерных генов и ретроспективного анализа выборки из 202 пациентов с направляющим диагнозом митохондриальная энцефалопатия/синдром Ли . Показано, что мутации в гене SCO2 занимают второе место по частоте после мутаций в гене SURF1 при младенческой митохондриальной энцефаломиопатии.

Mitochondrial diseases are characterized by considerable diversity of clinical presentations and genetic heterogeneity and mostly manifest in neonatal period or in early childhood. Clinical picture of these patients reveales a variety of neurological and somatic symptoms. Mutations in mitochondrial DNA (mtDNA) and in nuclear genes that control oxidative phosphorylation processes can cause mitochondrial diseases. The article provides the literature analysis and description of a 5 new patients with mutations in the SCO2 gene identified by a target sequencing of 62 nuclear mitochondrial genes and by retrospective analysis of 202 patients with a clinical diagnosis of mitochondrial myopathy / Leigh syndrome. It has been shown that SCO2 gene mutations present the second frequent cause of infantile mitochondrial encephalomyopathies after SURF1 gene mutations.

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