Heart failure & cardiomyopathies

FARS2 Deficiency Causes Cardiomyopathy by Disrupting Mitochondrial Homeostasis and the Mitochondrial Quality Control System

CirculationPublished Mechanistic study

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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