Клиническое значение индивидуальных особенностей митохондриальной ДНК

Широко известно, что мутации митохондриальной ДНК могут оказывать существенное влияние на развитие и течение различных мультисистемных заболеваний. Однако 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. В настоящее время эти полиморфизмы систематизированы в так называемые гаплогруппы. Целью настоящего обзора явился анализ литературы последних лет, посвященной взаимосвязи наследственного паттерна митохондриального генома (т.е. гаплогрупп) с фенотипическими особенностями. Структура митохондриальной ДНК фенотипически может проявляться как физиологические особенности организма, предрасположенность к тому или иному виду спортивной нагрузки, долгожительство. С другой стороны, индивидуальная структура митохондриальной ДНК может влиять на риск развития метаболических расстройств, заболеваний мозга, иммунной системы, психических заболеваний, воспалительных процессов и сепсиса. Многие исследования посвящены влиянию особенностей митохондриальной ДНК на предрасположенность к раку и течение этого заболевания. Отдельного внимания заслуживает влияние особенностей структуры митохондриального генома на чувствительность к различным видам лечения: трансплантация, антиретровирусная терапия и др. В настоящем обзоре не только выделены наиболее интересные исследования последних лет, но и рассматриваются современные методологические подходы к изучению митохондриальных гаплогрупп. В связи с глобальной разрозненностью результатов анализа гаплогрупп на сегодняшний день крайне важно максимально широкое освещение проводимых исследований. 

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