[HTML][HTML] F110I and R278C troponin T mutations that cause familial hypertrophic cardiomyopathy affect muscle contraction in transgenic mice and reconstituted human …
OM Hernandez, D Szczesna-Cordary… - Journal of Biological …, 2005 - ASBMB
We have studied the physiological effects of the troponin T (TnT) F110I and R278C
mutations associated with familial hypertrophic cardiomyopathy (FHC) in humans. Three to
four-month-old transgenic (Tg) mice expressing F110I-TnT and R278C-TnT did not develop
significant hypertrophy or ventricular fibrosis even after chronic exercise challenge. The
F110I mutation impaired acute exercise tolerance, whereas R278C did not. Skinned
papillary muscle fibers from transgenic mice expressing F110I-TnT demonstrated increased …
mutations associated with familial hypertrophic cardiomyopathy (FHC) in humans. Three to
four-month-old transgenic (Tg) mice expressing F110I-TnT and R278C-TnT did not develop
significant hypertrophy or ventricular fibrosis even after chronic exercise challenge. The
F110I mutation impaired acute exercise tolerance, whereas R278C did not. Skinned
papillary muscle fibers from transgenic mice expressing F110I-TnT demonstrated increased …