Novel familial dilated cardiomyopathy mutation in MYL2 affects the structure and function of myosin regulatory light chain
Population
Three adult first-degree relatives with idiopathic dilated cardiomyopathy, and in vitro porcine cardiac…
Comparison
D94A mutation in the myosin regulatory light chain vs Wild-type MYL2
Design
Preclinical
Authors
Discussion
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Member takes
Implication
D94A effects in porcine models require human validation; leaves open mechanistic contribution to familial dilated cardiomyopathy.
Structured PICO
P
Population
Three adult first-degree relatives with idiopathic dilated cardiomyopathy (DCM), and in vitro porcine cardiac preparations
I
Intervention
D94A mutation in the myosin regulatory light chain (MYL2)
C
Comparator
Wild-type MYL2
O
Outcome
Structural and functional changes in myosin regulatory light chain (alpha-helical content, phosphorylation, binding to myosin heavy chain, ATPase activity, contractile force)surrogate
The novel D94A mutation in MYL2 causes structural rearrangements and impaired interaction with the myosin heavy chain, contributing to the dilated cardiomyopathy phenotype.
Cite This Study
Huang et al. (2015) studied this question.