Key result
Expression of cMyBP-CΔC10mut in transgenic mice resulted in significant cardiac hypertrophy (heart weight/body weight ratio 5.34 vs 4.43 mg/g; P<0.05) and contractile dysfunction.
Why the study?
A 25-base pair MYBPC3 deletion modifies the C10 domain and is associated with HCM, but the molecular mechanisms underlying its pathogenicity in vivo were unknown.
Population
Transgenic mice expressing cardiac-specific cMyBP-CΔC10mut and non-transgenic controls
Comparison
Transgenic cMyBP-CΔC10mut mice vs non-transgenic controls
Design
Preclinical transgenic animal study
Authors
Loading...
Supports cMyBP-CΔC10mut causality in HCM; hypothesis-generating for human translation and therapies.
Absolute Event Rate: 5.34% vs 4.43%
p-value: p=< 0.05
Expression of the cMyBP-CΔC10mut protein is sufficient to cause hypertrophic cardiomyopathy and contractile dysfunction in vivo, providing a mechanistic basis for the disease observed in South Asian populations carrying this mutation.
Kuster et al. (2019) studied Hypertrophic cardiomyopathy. Expression of cMyBP-CΔC10mut vs. Non-transgenic (NTG) controls was evaluated on Heart weight/body weight ratio (p=< 0.05). Expression of cMyBP-CΔC10mut in transgenic mice resulted in significant cardiac hypertrophy (heart weight/body weight ratio 5.34 vs 4.43 mg/g; P<0.05) and contractile dysfunction.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: