Amy Koski

TL;DR: The efficiency, accuracy and safety of the approach presented suggest that it has potential to be used for the correction of heritable mutations in human embryos by complementing preimplantation genetic diagnosis.

TL;DR: A polymorphism within the conserved sequence box II region of the D-loop is identified as a plausible cause of preferential replication of specific mtDNA haplotypes, and a matching paradigm for selecting compatible donor mtDNA for MRT is proposed.

TL;DR: The frequency of mtDNA defects in iPSCs increased with age, and many mutations were non-synonymous or resided in RNA coding genes and thus can lead to respiratory defects, highlighting a need to monitor mtDNA mutations in i PSCs, especially those generated from older patients, and to examine the metabolic status of iPSC destined for clinical applications.

TL;DR: Both reprogramming approaches offer complementary strategies for derivation of PSCs containing exclusively wild-type mtDNA, through spontaneous segregation of heteroplasmic mtDNA in individual iPS cell lines or mitochondrial replacement by SCNT in homoplasmi mtDNA-based disease.