Cardiac troponin T is essential in sarcomere assembly and cardiac contractility

• Published in: Nature genetics Vol. 31; no. 1; pp. 106 - 110
• Main Authors: Sehnert, Amy J., Huq, Anja, Weinstein, Brant M., Walker, Charline, Fishman, Mark, Stainier, Didier Y. R.
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.05.2002; Nature Publishing Group
• Subjects: Agriculture; Animal Genetics and Genomics; Animals; Athletes; Base Sequence; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; Calcium; Cancer Research; Cardiomyocytes; Cardiomyopathy; Cardiomyopathy, Hypertrophic, Familial - genetics; Classical genetics, quantitative genetics, hybrids; Cloning, Molecular; Danio rerio; DNA - genetics; Edema; Embryos; Fundamental and applied biological sciences. Psychology; Gene Function; Genetics of eukaryotes. Biological and molecular evolution; Genotype & phenotype; Human Genetics; Humans; letter; Mice; Microscopy; Molecular Sequence Data; Mutants; Mutation; Myocardial Contraction - genetics; Myocardial Contraction - physiology; Myocardium - metabolism; Myocardium - pathology; Phenotype; Protein expression; Proteins; Sarcomeres - pathology; Troponin T - deficiency; Troponin T - genetics; Troponin T - physiology; Vertebrata; Zebrafish - embryology; Zebrafish - genetics; Zebrafish - physiology; San Francisco California; California; United States > US; Massachusetts; Heart; Tropomyosin; Contractility; Cardiovascular disease; Gene expression; Myocardial disease; Troponin T; Vertebrata; Brachydanio rerio; Troponin I; Molecular assembly; Heart disease; Pisces; Hypertrophic cardiomyopathy; Mutation; Sarcomere

Mutations of the gene ( TNNT2 ) encoding the thin-filament contractile protein cardiac troponin T are responsible for 15% of all cases of familial hypertrophic cardiomyopathy, the leading cause of sudden death in young athletes 1 , 2 . Mutant proteins are thought to act through a dominant-negative m...