Author

Christoph Maack

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Review Open access Aug 2026

Shifting the Balance: Mitochondrial Heteroplasmy as a Driver of Cardiac Disease

Mitochondrial heteroplasmy represents a fundamental determinant of mitochondrial function and disease, yet its consequences vary across different tissues. Although mitotic tissues possess mechanisms, such as cell division and mitochondrial turnover, to dilute or remove deleterious variants, postmitotic tissues lack thi...

Andriana Papadaki, Itamar Braga Dias, C. Maack et al. · Circulation Research · 0 citations

Sep 2026

Dysregulated Ribonucleoprotein Granules Impair Mitochondrial Function in RBM20-Related Dilated Cardiomyopathy.

BACKGROUND Pathogenic variants in RBM20 cause severe dilated cardiomyopathy. Loss-of-function variants disrupt splicing; neomorphic gain-of-function (GoF) variants also mislocalize RBM20 to cytoplasmic ribonucleoprotein granules and are associated with more aggressive disease. The mechanism by which RBM20 mislocalizati...

Julia Kornienko, Linda H. Müller, A. Nickel et al. · Circulation · 0 citations

Open access Jul 2026

RBM20 variants disrupt Ca2+ handling and metabolism in dilated and non-compaction cardiomyopathy stem cell models

Mutations in the splice-regulator RBM20 cause heart failure with reduced ejection fraction (HFrEF), typically manifesting as dilated cardiomyopathy (DCM). Mutations at position 634 in the RS-domain cause DCM with (R634L) or without (R634W) left ventricular non-compaction (LVNC). However, the mechanisms underlying pheno...

S. Rebs, F. Sedaghat-Hamedani, E. Kayvanpour et al. · Signal Transduction and Targ... · 0 citations