Key result
Heterozygous MYBPC3 truncation mutation mice showed significantly decreased maximal force development (68.5 vs. 82.2 mN/mm2 at 1.9 μm) and reduced E/A ratios compared to wild-type littermates.
Why the study?
Does a heterozygous MYBPC3 truncation mutation cause functional impairments in mice before the onset of overt hypertrophy?
Population
Heterozygous (+/t) knock-in MYBPC3 truncation mutation mice
Comparison
Heterozygous MYBPC3 truncation mutation (+/t) vs Wild-type (+/+) littermates
Design
Preclinical
Authors
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Subtle myofilament and diastolic deficits precede hypertrophy in asymptomatic MYBPC3 mice; leaves open early detection or intervention in human carriers.
Does a heterozygous MYBPC3 truncation mutation cause functional impairments in mice before the onset of overt hypertrophy?
Absolute Event Rate: 68.5% vs 82.2%
Seemingly asymptomatic heterozygous MYBPC3 carriers exhibit subtle contractile and diastolic impairments that precede overt hypertrophic cardiomyopathy.
Barefield et al. (2014) studied Hypertrophic cardiomyopathy. Heterozygous MYBPC3 truncation mutation vs. Wild-type (+/+) littermates was evaluated on Maximal force development at sarcomere length of 1.9 μm (mN/mm2). Heterozygous MYBPC3 truncation mutation mice showed significantly decreased maximal force development (68.5 vs. 82.2 mN/mm2 at 1.9 μm) and reduced E/A ratios compared to wild-type littermates.
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