bioRxivCell BiologyPreprint
Human heart organoids reveal a regenerative strategy for mitochondrial disease
Minh Duc PhamiD, Arka Provo Das, Yue Wang, Despina Stefanoska, Ting YuaniD, Chaonan ZhuiD, Meiqian WuiD, Alfredo Cabrera‐OreficeiD, Luka NiciniD, Shane BelliD, Mathias LangneriD, U. Gärtner, Oliver M. RusselliD, Jonathan Ward, Mirko PeitzschiD, Wesley Tyler AbplanalpiD, Maria Duda, Yu Hao, Phillip GroteiD, Marek BartkuhniD, Ilka WittigiD, Peter MirtschinkiD, Andreas Michael ZeiheriD, Stefanie DimmeleriD, Jaya KrishnaniD
Abstract
The human heart is among the most complex tissues to replicate in vitro, with vascular, neuronal, and immune elements shaping its development and function. Here we describe cardiomorphs, self-organising human cardiac organoids that recapitulate the cellular diversity, structural organisation, vascularisation, and innervation of the myocardium and mature along a developmental trajectory from early cardiogenesis to adult tissue. Using patient-derived cardiomorphs, we establish the first three-dimensional human tissue model of Kearns-Sayre syndrome (KSS), a rare mitochondrial disorder characterised by large-scale mtDNA deletions. KSS-cardiomorphs faithfully reproduce disease-associated metabolic, contractile, and ultrastructural hallmarks. Leveraging this platform, we identify Betaxolol, an FDA-approved selective {beta}1-adrenergic antagonist, as a modulator of mitochondrial quality control. Betaxolol increases intracellular oxygenation, selectively eliminates dysfunctional mitochondria via mitophagy, and promotes biogenesis of functional organelles, restoring contractility in KSS tissues. This dual-action, mutation-agnostic mechanism suggests a therapeutic principle with broad relevance to mitochondrial disease, cardiac pathology, and age-associated decline.
- organism: human
- assay: organoid / primary culture
- research focus: differential expression
- research focus: drug response / drug discovery
- approach: experimental assay
- Citations
- 0
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