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mitochondrial DNA disease

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  • Mitochondrial replacement techniques (MRTs) are designed to prevent the transmission of mitochondrial DNA (mtDNA) diseases from mother to child. These diseases vary in presentation and severity, but common symptoms include developmental delays, seizures, weakness and fatigue, muscle pain, vision loss, and heart problems, leading to morbidity and in some cases premature death. The goal of MRT is to prevent the transmission of these serious diseases by creating an embryo with nuclear DNA (nDNA) from the intended mother and mtDNA from a woman with nonpathogenic mtDNA through modification of either an oocyte (egg) or zygote (fertilized oocyte). While MRT, if effective, could satisfy the desire of women seeking to have a genetically related child without the risk of passing on mtDNA disease, the techniques raise significant ethical and social issues.

    Anne Claiborne et al., Mitochondrial Replacement Techniques: Ethical Social, and Policy Considerations (Washington, DC: National Academies Press, 2016), p. 17 (Summary)

    February 9, 2016