☆ 4.7 Editorial Material

Implications of mitochondrial DNA mutations in human induced pluripotent stem cells

NATURE REVIEWS GENETICS (2022)

Extreme heterogeneity of human mitochondrial DNA from organelles to populations

James B. Stewart et al.

Summary: Deep resequencing has revealed extreme genetic variation in mitochondrial genomes at multiple levels, shedding light on the origins of human mitochondrial DNA mutations and their impact on rare and common human diseases, including cancer.

NATURE REVIEWS GENETICS (2021)

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Article Multidisciplinary Sciences

Cell reprogramming shapes the mitochondrial DNA landscape

Wei Wei et al.

Summary: Analysis of mtDNA in a large number of iPSC lines reveals that iPSC-specific mutations affect a higher proportion of mtDNA molecules, favoring non-synonymous protein-coding and tRNA variants. Additionally, stable heteroplasmy in mtDNA variants during cell differentiation influences mitochondrial metabolism and cell differentiation.

NATURE COMMUNICATIONS (2021)

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Article Cell & Tissue Engineering

The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs

Flavia Palombo et al.

Summary: This study conducted mtDNA deep sequencing during the transition of iPSCs and NPCs, finding that mtDNA variants fluctuate between appearing and disappearing with some potentially having functional implications. It strongly recommends including mtDNA analysis in the validation process of iPSCs and NPCs to ensure their certification and usability.

STEM CELL REPORTS (2021)

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Article Cell Biology