Mitochondrial replacement by genome transfer in human oocytes: Efficacy, concerns, and legality

Mitsutoshi Yamada, Suguru Sato, Reina Ooka, Kazuhiro Akashi, Akihiro Nakamura, Kenji Miyado, Hidenori Akutsu, Mamoru Tanaka

研究成果: Review article査読

7 被引用数 (Scopus)


Background: Pathogenic mitochondrial (mt)DNA mutations, which often cause life-threatening disorders, are maternally inherited via the cytoplasm of oocytes. Mitochondrial replacement therapy (MRT) is expected to prevent second-generation transmission of mtDNA mutations. However, MRT may affect the function of respiratory chain complexes comprised of both nuclear and mitochondrial proteins. Methods: Based on the literature and current regulatory guidelines (especially in Japan), we analyzed and reviewed the recent developments in human models of MRT. Main findings: MRT does not compromise pre-implantation development or stem cell isolation. Mitochondrial function in stem cells after MRT is also normal. Although mtDNA carryover is usually less than 0.5%, even low levels of heteroplasmy can affect the stability of the mtDNA genotype, and directional or stochastic mtDNA drift occurs in a subset of stem cell lines (mtDNA genetic drift). MRT could prevent serious genetic disorders from being passed on to the offspring. However, it should be noted that this technique currently poses significant risks for use in embryos designed for implantation. Conclusion: The maternal genome is fundamentally compatible with different mitochondrial genotypes, and vertical inheritance is not required for normal mitochondrial function. Unresolved questions regarding mtDNA genetic drift can be addressed by basic research using MRT.

ジャーナルReproductive Medicine and Biology
出版ステータスPublished - 2021 1月

ASJC Scopus subject areas

  • 生殖医学
  • 細胞生物学


「Mitochondrial replacement by genome transfer in human oocytes: Efficacy, concerns, and legality」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。