Induced pluripotent stem cells: ex vivo models for human diseases due to mitochondrial DNA mutations

Chen, Chao; Guan, Min-Xin

doi:10.1186/s12929-023-00967-7

Journal of Biomedical Science

Table 1 iPSC models of mtDNA mutation induced diseases

From: Induced pluripotent stem cells: ex vivo models for human diseases due to mitochondrial DNA mutations

Syndrome/disease	Locus in mtDNA or nDNA	Mutation	Type of mtDNA mutation	Effects on			References
Syndrome/disease	Locus in mtDNA or nDNA	Mutation	Type of mtDNA mutation	Efficiency of reprogramming	Maintenance of pluripotency	Differentiation capacities	References
Pearson syndrome		Large scale deletion	Het	Low efficiency	Not affected	Differentiated to hematopoietic cells with defective functions	[75, 76]
Kearns Sayre syndrome		Large scale deletion	Het	N/A	N/A	N/A	[77, 78]
MELAS	tRNA^Leu(UUR)	m.3243A > G	Het	Low efficiency	Not affected	Differentiated to cardiomyocytes, neuronal cells, and RPEs with defective functions	[79, 81, 82, 84,85,86,87,88,89,90,91, 93]
	ND5	m.13513G > A	Het	Not affected	Not affected	Incapable of αSMA-positive cells differentiation, and abnormal TUBB3-positive cells differentiation	[80, 92]
	tRNA^Trp	m.5541C > T	Het	N/A	N/A	Differentiated to neuronal cell and skeletal muscle with impaired neuronal maturation	[83]
MERRF	tRNA^Lys	m.8344A > G	Het	Low efficiency	Not affected	Differentiated to cardiomyocytes, NPCs, and inner ear HC-like cells with defective functions	[101, 102]
Leigh syndrome	ATP6	m.8993 T > G	Het	N/A	Not affected	Differentiated to skeletal muscle cells and cardiomyocytes with defective functions/Impaired differentiation potential in high mutation rate cells	[82, 108, 109, 111]
		m.9185 T > C	Hom	N/A	Not affected	Differentiated to NPCs with defective functions	[107, 109]
		m.9154C > T	Het	Not affected	Not affected	Differentiated to motor neurons with defective functions	[112]
	ND5	m.13513G > A	Het	N/A	Not affected	Inefficient differentiation to cardiomyocytes; differentiated to neurons with defective functions	[82, 110]
LHON	ND1/ND6	m.4160T > C/m.14484T > C	Hom	N/A	Not affected	Differentiated to RGCs with defective functions	[113]
	ND4	m.11778G > A	Hom	N/A	Not affected	Differentiated to RGCs and neurons with defective functions	[114,115,116,117]
	ND1	m.3460G > A	Hom	N/A	Not affected	Differentiated to neurons with defective functions	[117]
	ND4/PRICKLE3	m.11778G > A/c.157C > T	Hom	N/A	Not affected	Differentiated to RGCs with defective functions	[125]
	ND4/YARS2	m.11778G > A/c.572G > T	Hom	N/A	Not affected	Differentiated to RGCs with defective functions	[126]
Hearing loss	12S rRNA/TRMU	m.1555A > G/c.28G > T	Hom	N/A	Not affected	Differentiated to inner ear HC-like cells with defective functions	[134]

Het heteroplasmy, Hom homoplasmy, N/A not available, MELAS mitochondrial encephalomyopathy lactic acidosis, and stroke-like episodes, MERRF myoclonic epilepsy associated with ragged-red fibers, LHON Leber hereditary optic neuropathy, ND1/4/5/6 mitochondrially encoded nadh:ubiquinone oxidoreductase core subunit 1/4/5/6, PRICKLE3 prickle planar cell polarity protein 3, YARS2 mitochondrial tyrosyl-tRNA synthetase, TRMU mitochondrial tRNA 2-thiouridylate, RPE retinal pigment epithelial, αSMA alpha smooth muscle actin, TUBB3 tubulin beta 3 class III, NPC neural progenitor cell, HC hair cell, RGC retinal ganglion cell

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ISSN: 1423-0127

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