MYOM1 deficiency leads to dilated cardiomyopathy by disrupting the homeostasis of sarcoplasmic reticulum - PubMed
5 days ago
- #Dilated cardiomyopathy
- #Sarcoplasmic reticulum
- #MYOM1
- MYOM1 deficiency is linked to dilated cardiomyopathy (DCM) and heart failure.
- Loss-of-function MYOM1 variants disrupt sarcomere integrity and sarcoplasmic reticulum calcium homeostasis.
- Functional studies show MYOM1 deficiency leads to sarcomeric disorganization and mitochondrial abnormalities.
- Calcium imaging reveals impaired calcium conduction and blunted intracellular calcium transients.
- MYOM1 is identified as a potential target for DCM risk stratification and therapy.