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Impact <p><UnorderedList Mark="Bullet"> <ItemContent> <p><i>DNM1L</i> mutations impair mitochondrial fission, leading to cardiomyocyte energy deficits and contractile dysfunction, and reveal a cardiac role for <i>DNM1L</i> beyond neurological disease.</p> </ItemContent> <ItemContent> <p>iPSC-cardiomyocytes derived from patients with <i>DNM1L</i> mutations demonstrate mitochondrial defects and cardiomyopathy phenotypes, offering a robust model to dissect disease mechanisms and identify personalised therapies.</p> </ItemContent> <ItemContent> <p>Disrupted mitochondrial dynamics directly lead to calcium mishandling and contractile dysfunction, positioning fission/fusion pathways as promising therapeutic targets in cardiomyopathy treatment.</p> </ItemContent> </UnorderedList></p>

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Patient-derived induced pluripotent stem cell models reveal mechanistic links between aberrant mitochondrial dynamics and cardiomyopathy

  • 期刊论文

  • 发表日期：

    2025年7月9日

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  • Chrishan J. Ramachandra

摘要

Impact

DNM1L mutations impair mitochondrial fission, leading to cardiomyocyte energy deficits and contractile dysfunction, and reveal a cardiac role for DNM1L beyond neurological disease.

iPSC-cardiomyocytes derived from patients with DNM1L mutations demonstrate mitochondrial defects and cardiomyopathy phenotypes, offering a robust model to dissect disease mechanisms and identify personalised therapies.

Disrupted mitochondrial dynamics directly lead to calcium mishandling and contractile dysfunction, positioning fission/fusion pathways as promising therapeutic targets in cardiomyopathy treatment.