Article
Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosis.
Annals of the New York Academy of Sciences - 1 Sept 2015
Smeets Hubert J M, Sallevelt Suzanne C E H, Dreesen Jos C F M, de Die-Smulders Christine E M, de Coo Irenaeus F M
Abstract excerpt
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...
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