Gene TNNT2
Back to Curriculum
Also known as
Troponin T2, Cardiac, cTnT, CMH2, RCM3, CMD1DOverview
TNNT2 (Troponin T2) encodes cardiac troponin T, the tropomyosin-binding component of the troponin complex in cardiac muscle. Troponin T anchors the troponin complex to tropomyosin and the thin filament, serving as a crucial structural and regulatory element in cardiac muscle contraction. The protein transmits the calcium-induced conformational changes from troponin C through the troponin complex to tropomyosin, ultimately regulating the exposure of myosin-binding sites on actin. Like troponin I, cardiac troponin T is highly specific to cardiac tissue and is used clinically as a sensitive biomarker for myocardial injury, particularly in the diagnosis of acute myocardial infarction.Mutations in TNNT2 are a relatively common cause of familial hypertrophic cardiomyopathy (HCM), accounting for approximately 5-15% of HCM cases, and also cause dilated cardiomyopathy (DCM) and restrictive cardiomyopathy (RCM). These conditions are inherited in an autosomal dominant pattern. Notably, TNNT2 mutations often produce a distinctive phenotype characterized by minimal hypertrophy but high risk of sudden cardiac death, making them particularly dangerous. The clinical presentation is highly variable, ranging from asymptomatic gene carriers to severe heart failure and arrhythmias. Early genetic diagnosis through family screening is crucial for risk stratification, implementation of preventive therapies, and lifestyle modifications to reduce sudden death risk in mutation carriers.