Advances in the molecular genetics of nuclear gene mutations causing pediatric mitochondrial cardiomyopathy

Zi-Wei WANG; Yu-Qi WANG; Chun-Li WANG

doi:10.7499/j.issn.1008-8830.2510107

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Chinese Journal of Contemporary Pediatrics ›› 2026, Vol. 28 ›› Issue (6) : 772-779. DOI: 10.7499/j.issn.1008-8830.2510107

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Advances in the molecular genetics of nuclear gene mutations causing pediatric mitochondrial cardiomyopathy

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Abstract

Mitochondrial cardiomyopathy (MCM) is a heterogeneous group of disorders characterized by abnormal myocardial structure and/or function caused by defects in genes encoding the oxidative phosphorylation chain. This review systematically summarizes molecular genetic advances regarding nuclear gene mutations associated with pediatric MCM, focusing on mutations affecting pathways including respiratory chain complex subunits and assembly factors, coenzyme Q10 biosynthesis, mitochondrial DNA maintenance and expression, lipid metabolism, iron-sulfur cluster metabolism, apoptosis regulation, and mitochondrial dynamics. These nuclear gene mutations contribute to myocardial pathological changes by disrupting key processes such as mitochondrial energy metabolism, membrane stability, and signal transduction. The review provides a theoretical basis for precise clinical diagnosis and the exploration of potential molecular targets in pediatric MCM.

Key words

Mitochondrial cardiomyopathy / Nuclear gene / Oxidative phosphorylation / Mutation / Child

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Zi-Wei WANG , Yu-Qi WANG , Chun-Li WANG. Advances in the molecular genetics of nuclear gene mutations causing pediatric mitochondrial cardiomyopathy[J]. Chinese Journal of Contemporary Pediatrics. 2026, 28(6): 772-779 https://doi.org/10.7499/j.issn.1008-8830.2510107

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