perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”perinatology-200Research ArticleОБЗОР ЛИТЕРАТУРЫREVIEWSПатогенные точечные мутации митохондриальной ДНКPathogenic mitochondrial DNA point mutationsЛитвиноваН. А.LitvinovaN. A.

н.с. научно-исследовательской лаборатории общей патологии Научно-исследовательского клинического института педиатрии

ВоронцоваА. С.VoronkovaA. S.

н.с. той же лаборатории

СухорукоеВ. С.SuchorukovV. S.

д.м.н., проф., зав. тойже лабораторией125412 Москва, ул. Талдомская, д. 2

 

Научно-исследовательский клинический институт педиатрии, МоскваРоссияResearch Clinical Institute of Pediatrics, MoscowRussian Federation2014150320165922934Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20162016Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/200

Нарушения клеточного энергообмена, в основе которых лежит митохондриальная недостаточность, обусловленная точечными мутациями митохондриальной ДНК, ведут к широкому спектру клинических проявлений. Цель обзора — анализ публикаций последних лет, посвященных взаимосвязи точечных мутаций митохондриальной ДНК и митохондриальных заболеваний, которые раскрывают важность развития молекулярной диагностики. Наличие мутаций A3243G, Т3271С, Т3291С, С3256Т, A8344G, G8356A, A3260G, СЗЗОЗТ, A4300G в мтДНК может свидетельствовать о мультиорганных дисфункциях и мультисистемных расстройствах, клинические признаки и симптомы которых могут измениться с течением времени, что подчеркивает значимость комплексных генетических исследований, в случаях, если митохондриальная болезнь предполагается клинически.

Cell energy metabolic disorders, the basis for which is mitochondrial insufficiency caused by mitochondrial DNA (mtDNA) point mutations, give rise to a broad spectrum of clinical manifestations so the purpose of this review is to analyze the recent publications on the relationship of mtDNA point mutations to mitochondrial diseases, which unveil the importance of development of molecular diagnosis. The presence of A3243G, T3271C, T3291C, C3256T, A8344G, G8356A, A3260G, СЗЗОЗТ, and A4300Gmutations in mtDNA may suggest that there are multiorgan dysfunctions and multisystem disorders, the clinical signs and symptoms of which can vary with time, which emphasizes the importance of comprehensive genetic studies if the mitochondrial disease is assumed to be clinical.

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