Mitochondrial diseases: causes and solutions (literature review)

Ekaterina D. Ivanova , Vera S. Belousova , Oksana V. Skorobogatova , Irina M. Bogomazova , Elena V. Timokhina , Svetlana V. Pesegova

V.F.Snegirev Archives of Obstetrics and Gynecology ›› 2023, Vol. 10 ›› Issue (4) : 243 -251.

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V.F.Snegirev Archives of Obstetrics and Gynecology ›› 2023, Vol. 10 ›› Issue (4) : 243 -251. DOI: 10.17816/2313-8726-2023-10-4-243-251
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Mitochondrial diseases: causes and solutions (literature review)

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Abstract

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.

Keywords

mitochondrial diseases / mitochondrial DNA / mitochondrial replacement therapy / three-parent child / review

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Ekaterina D. Ivanova, Vera S. Belousova, Oksana V. Skorobogatova, Irina M. Bogomazova, Elena V. Timokhina, Svetlana V. Pesegova. Mitochondrial diseases: causes and solutions (literature review). V.F.Snegirev Archives of Obstetrics and Gynecology, 2023, 10(4): 243-251 DOI:10.17816/2313-8726-2023-10-4-243-251

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