medalphabetМедицинский алфавитMedical alphabet2078-56312949-2807ООО «Альфмед»medalphabet-775Research ArticleСтатьиГенетические вариации митохондриальной ДНК при отсутствии признаков гипоксической недостаточностиGenetic variations of mitochondrial DNA in absence of hypoxic deficiency signsЛитвиноваН. А.LitvinovaN. A.noemail@neicon.ruСухоруковВ. С.SukhorukovV. S.noemail@neicon.ruНиколаеваЕ. А.NikolaevaE. A.noemail@neicon.ruАртемьеваС. Б.ArtemyevaS. B.noemail@neicon.ruВоронковаА. С.VoronkovaA. S.noemail@neicon.ruЩербоС. Н.ScherboS. N.noemail@neicon.ruОСП - научно-исследовательский клинический институт педиатрии имени академика Ю. Е. Вельтищева ФГБОУ ВО «Российский национальный исследовательский медицинский университет имени Н. И. Пирогова» Минздрава РоссииРоссияScientific Research Institute of Pediatrics of Russian National Research Medical University n.a. N. I. PirogovRussian FederationФГБОУ ВО «Российский национальный исследовательский медицинский университет имени Н. И. Пирогова» Минздрава РоссииРоссияRussian National Research Medical University n.a. N. I. PirogovRussian Federation201807102018231Больница4549Copyright © Литвинова Н.А., Сухоруков В.С., Николаева Е.А., Артемьева С.Б., Воронкова А.С., Щербо С.Н., 20182018Литвинова Н.А., Сухоруков В.С., Николаева Е.А., Артемьева С.Б., Воронкова А.С., Щербо С.Н.Litvinova N.A., Sukhorukov V.S., Nikolaeva E.A., Artemyeva S.B., Voronkova A.S., Scherbo S.N.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.med-alphabet.com/jour/article/view/775

Митохондриальный геном крайне вариабелен, даже при отсутствии патологических мутаций он несет в себе важные индивидуальные черты. Некоторые полиморфизмы митохондриальной ДНК закреплены наследованием на протяжении тысяч лет, они филогенетически развивались по мере расселения человечества. Несмотря на сообщения о широком распространении гетероплазмии мтДНК в здоровой популяции, до сих пор остаются вопросы: какие варианты мтДНК болезнетворные, а какие просто популяционные вариации. Распространенность патогенных вариаций мтДНК, гетероплазмии и их патогенный потенциал у здорового населения не были хорошо охарактеризованы и могут быть недооценены, особенно в современном ожидании восстановления нормальной клеточной функции за счет трансплантации функционально жизнеспособных митохондрий.

The mitochondrial genome is extremely variable, even in the absence of pathological mutations, it carries important individual traits. Some mitochondrial DNA polymorphisms have been fixed by inheritance for thousands of years; they developed phylogenetically as humanity moved. Despite reports of widespread mtDNA heteroplasmy in a healthy population, there are still questions on which variants of mtDNA are pathogenic and which are just population variations. The prevalence of pathogenic variations of mtDNA, heteroplasmy and their pathogenic potential in a healthy population have not been well characterized and may be underestimated, especially in the modern expectation of the restoration of normal cellular function due to transplantation of functionally viable mitochondria.

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