V.F.Snegirev Archives of Obstetrics and GynecologyV.F.Snegirev Archives of Obstetrics and GynecologyАрхив акушерства и гинекологии им. В.Ф. Снегирева2313-87262687-1386Eco-Vector62463310.17816/2313-8726-2023-10-4-243-251ReviewsНаучные обзорыReview ArticleMitochondrial diseases: causes and solutions (literature review)Митохондриальные болезни: причины и пути решения проблемы (обзор литературы)https://orcid.org/0009-0006-0016-4701IvanovaEkaterina D.ИвановаЕкатерина Дмитриевна
Russian Federation

Student

студентка

katerina.dip.13@gmail.ruhttps://orcid.org/0000-0001-8332-7073BelousovaVera S.БелоусоваВера Сергеевна
Russian Federation

MD, Dr. Sci. (Med.), Assistant Professor, Professor of the Department of Obstetrics, Gynecology and Perinatology

д-р мед. наук, доцент, профессор кафедры акушерства, гинекологии и перинатологии

belousova_v_s@staff.sechenov.ruhttps://orcid.org/0009-0009-8664-3536SkorobogatovaOksana V.СкоробогатоваОксана Витальевна
Russian Federation

Graduate Student

аспирант

aisha27_sum@mail.ruhttps://orcid.org/0000-0003-1156-7726BogomazovaIrina M.БогомазоваИрина Михайловна
Russian Federation

MD, Cand. Sci. (Med.), Assistant Professor

канд. мед. наук, доцент

bogomazova_i_m@staff.sechenov.ruhttps://orcid.org/0000-0001-6628-0023TimokhinaElena V.ТимохинаЕлена Владимировна
Russian Federation

MD, Dr. Sci. (Med.), Assistant Professor, Professor of the Department

д-р мед. наук, доцент, профессор кафедры

timokhina_i_m@staff.sechenov.ruhttps://orcid.org/0000-0002-1339-5422PesegovaSvetlana V.ПесеговаСветлана Вячеславовна
Russian Federation

MD, Cand. Sci. (Med.), Assistant Lecturer

канд. мед. наук, ассистент

pesegova_s_v@staff.sechenov.ruI.M. Sechenov First Moscow State Medical UniversityПервый Московский государственный медицинский университет им. И.М. Сеченова (Сеченовский Университет)191220231042432511412202314122023Copyright ©; 2023, Eco-VectorCopyright ©; 2023, Эко-Вектор2023Eco-VectorЭко-Векторhttps://archivog.com/2313-8726/article/view/624633

The discovery of mitochondrial desoxyribonucleic acid (DNA) mutations and the association of these mutations with the development of severe, sometimes, fatal diseases led to new forms of reproductive technologies, i.e., mitochondrial replacement therapy. Currently, researchers are investigating three main methods of mitochondrial replacement therapy: pronuclear transfer, maternal spindle transfer, and polar body genome transfer. Thanks to these methods, the transmission of faulty mitochondrial DNA from the mother to the next generation can be prevented, with the main goal of developing a healthy offspring free of genetic disorders and lethal mitochondrial diseases. However, the implementation of these technologies has raised several moral, social, and cultural concerns, as it marks the emergence of a child with genetic material from three parents for the first time. This review presents an objective summary of the causes of mitochondrial disorders and various techniques employed in mitochondrial replacement therapy, along with their outcomes.

Обнаружение мутаций митохондриальной ДНК и связь этих мутаций с развитием тяжёлых, порой летальных, заболеваний привели к развитию новых форм репродуктивных технологий ― митохондриальной заместительной терапии. В настоящее время исследователи изучают три основных метода митохондриальной заместительной терапии: пронуклеарный перенос (pronuclear transfer technique ― PNT), перенос материнского веретена (maternal spindle transfer ― MST) и перенос генома полярного тела (polar body genome transfer ― PBT). Благодаря данным методам можно предотвратить передачу дефектной митохондриальной ДНК от матери к следующему поколению. Развитие здорового ребёнка, свободного от генетических нарушений, и предупреждение появления летальных митохондриальных нарушений ― главная задача этого нового метода. Однако вокруг использования данных технологий возник ряд моральных, социальных и культурных возражений, поскольку человечество впервые столкнулось с появлением ребёнка от трёх родителей. Таким образом, в этом обзоре кратко изложены причины появления митохондриальных заболеваний, описываются различные методы, используемые в митохондриальной заместительной терапии, а также результаты их применения.

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