Troponin T (TNNTs) is one of the three subunits that form troponin (Tn) which together with tropomyosin (TPMs) is responsible for the regulation of striated muscle contraction.
Pathology
Several striated muscle myopathies have been directly linked to mutations in contractile and associated proteins. All three subunits of cardiac Tn as well as tropomyosin (TPMs) have been associated with hypertrophic cardiomyopathy (HCM). However, TnT accounts for most of the mutations that cause HCM in these regulatory proteins.
To date 30 mutations have been identified in the cardiac TnT (CTnT) gene that results in familial HCM (FHC). The CTnT gene has also been associated with familial dilated cardiomyopathy (DCM). CTnT deficiency is lethal due to impaired cardiac development.
A recessive nonsense mutation in the gene encoding slow skeletal TnT has been associated with an unusual, severe form of nemaline myopathy among the Old Order Amish.
See also
| TNNCs | TNNC1 | TNNC2 | |
| TNNIs | TNNI1 | TNNI2 | TNNI3 |
| TNNTs | TNNT1 | TNNT2 | TNNT3 |
References
Gomes AV, Barnes JA, Harada K, Potter JD. Role of troponin T in disease. Mol Cell Biochem. 2004 Aug;263(1-2):115-29. PMID: 15524172