Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosis.

@article{Smeets2015PreventingTT,
  title={Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosis.},
  author={Hubert J. M. Smeets and Suzanne C E H Sallevelt and Jos C. F. M. Dreesen and Christine E M de Die-Smulders and Irenaeus F M de Coo},
  journal={Annals of the New York Academy of Sciences},
  year={2015},
  volume={1350},
  pages={29-36}
}
Mitochondrial disorders are among the most common inborn errors of metabolism; at least 15% are caused by mitochondrial DNA (mtDNA) mutations, which occur de novo or are maternally inherited. For familial heteroplasmic mtDNA mutations, the mitochondrial bottleneck defines the mtDNA mutation load in offspring, with an often high or unpredictable recurrence risk. Oocyte donation is a safe option to prevent the transmission of mtDNA disease, but the offspring resulting from oocyte donation are… CONTINUE READING