(Abstracted from Reprod Biomed 2017;34:361–368)
It is estimated that at least 1 in 5000 people in the general population has 1 mutation in mitochondrial DNA (mtDNA), which can cause maternally inherited mitochondrial disorders. When both mutant mitochondrial and wild-type (normal) genomes coexist (heteroplasmy), the severity of symptoms is associated with the level of mtDNA mutation load or degree of heteroplasmy.
New Hope Fertility Center, Punto Sao Paulo, Guadalajara, Mexico (J.Z., A.C.-B.); New Hope Fertility Center, New York, NY (J.Z., H.L., Z. Lu, Z. Liu, M.Y.); Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH (S.L., T.H.); Department of Obstetrics and Gynecology, Division of Reproductive Biology, NYU School of Medicine, New York, NY (Z.M.); Infertility Center of St Louis, St Luke's Hospital, St Louis, MO (S.J.S.); and Reprogenetics, Livingston, NJ (S.M., M.K., D.W.)