Limitations of Preimplantation Genetic Diagnosis for Mitochondrial DNA Diseases
Cell Reports, Vol. 7, Issue 4, p935–937, 2014
Shoukhrat Mitalipov, Paula Amato, Samuel Parry, Marni J. Falk


Short description:
Stef fann et al. (2014) highlight significant differences in predicting the transmission of mitochondrial DNA (mtDNA) mutations by preimplantation genetic diagnosis (PGD) in human and rhesus macaque embryos. We previously demonstrated considerable segregation of mtDNA variants between daughter blastomeres within a monkey 8-cell embryo, implying that sampling and analyzing of one or two blastomeres may not be fully predictive of total mutation load in the remaining embryo. Moreover, monkey offspring produced from heteroplasmic embryos were nearly homoplasmic, suggesting that mtDNA mutation levels may increase drastically due to a genetic bottleneck (Lee et al., 2012).
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