Variable cardiac myosin binding protein-C expression in the myofilaments due to MYBPC3 mutations in hypertrophic cardiomyopathy
Population
12 hypertrophic cardiomyopathy (HCM) patients (n=6 with MYBPC3 mutations, n=6 with no sarcomere mutations)
Comparison
Presence of MYBPC3 mutations vs HCM patients with no sarcomere mutations (HCM smn)
Design
Other
Authors
Discussion
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Member takes
Implication
Cell-to-cell cMyBP-C variation may underlie phenotypic diversity in MYBPC3 HCM; leaves open causal links to progression.
Structured PICO
P
Population
12 hypertrophic cardiomyopathy (HCM) patients (n=6 with MYBPC3 mutations, n=6 with no sarcomere mutations)
I
Intervention
Presence of MYBPC3 mutations
C
Comparator
HCM patients with no sarcomere mutations (HCM smn)
O
Outcome
Overall cMyBP-C protein and mRNA levels, and cell-to-cell variation of cMyBP-C expression (ratio of cMyBP-C:α-actin stained area)surrogate
HCM patients with heterozygous MYBPC3 mutations exhibit reduced overall cMyBP-C expression and significant intercellular variation in myofilament protein levels compared to those without sarcomere mutations.
Cite This Study
Parbhudayal et al. (2018) studied this question.