Heart failure & cardiomyopathies
FARS2 Deficiency Causes Cardiomyopathy by Disrupting Mitochondrial Homeostasis and the Mitochondrial Quality Control System
Authors' conclusion
Our findings unveil the previously unrecognized role of FARS2 in heart and mitochondrial homeostasis.
Study context
- Population
- Patients with hypertrophic cardiomyopathy (HCM); Fars2-deficient mice, fars2-knockdown zebrafish and Fars2-knockdown neonatal rat ventricular myocytes
- Outcome
- FARS2 variants in HCM patients and cardiac phenotype of FARS2 deficiency models
Main finding
As reported in the abstract
- Unreported FARS2 variants identified in patients with HCM
- 7
Original publication
FARS2 Deficiency Causes Cardiomyopathy by Disrupting Mitochondrial Homeostasis and the Mitochondrial Quality Control System. Circulation. Published 16 February 2024. doi:10. 1161/ circulationaha. 123. 064489
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