TPM1
The TPM1 gene encodes a protein called tropomyosin alpha-1 chain, a key player in muscle movement. Tropomyosin acts like a molecular on/off switch within muscle cells, regulating the interaction between actin and myosin, the proteins responsible for contraction. Mutations in TPM1 are linked to various heart conditions, including thickening (hypertrophic cardiomyopathy) or weakening (dilated cardiomyopathy) of the heart muscle.
Associated Diseases
Hypertrophic Cardiomyopathy (HCM), Dilated Cardiomyopathy (DCM), Left ventricular noncompaction cardiomyopathy
Did you Know
HCM, caused by mutations in TPM1 and other genes, can sometimes be a silent condition. Even without noticeable symptoms, early detection through genetic testing or cardiac screening is crucial. This allows for better management of the condition and potentially reduces the risk of complications like heart failure or sudden cardiac death.
