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Mitochondrial diseases are caused by mutations in mitochondrial DNA (mtDNA) affecting mitochondrial function. Progressive life-limiting symptoms often begin in infancy and include poor growth, developmental delays, and seizures. In the U.K., a reproductive care program is available to all women carrying pathogenic mtDNA to reduce their risk of passing mtDNA diseases to their children. In this program:
Women with low levels of pathogenic mtDNA are offered preimplantation genetic testing (PGT) to select embryos for implantation.
Women with high levels of pathogenic mtDNA are offered mtDNA donation via pronuclear transfer (PNT), which replaces their mtDNA with that of a healthy donor.
Both approaches involve standard fertility protocols and donor…