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May 15, 2008Journal of Biological ChemistryOpen Access

Functional Effects of the Hypertrophic Cardiomyopathy R403Q Mutation Are Different in an α- or β-Myosin Heavy Chain Backbone

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Population

Transgenic mouse model in which endogenous alpha-MHC was largely replaced with transgenically encoded…

Comparison

R403Q mutation in an alpha-MHC or beta-MHC… vs Wild type alpha-MHC and beta-MHC

Design

Preclinical

Authors

SLSusan LoweyLLLeanne M. LeskoARArthur S. Rovner

Discussion

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Overview

R403Q functional effects are MHC-isoform specific in mice; leaves open relevance to human beta-MHC HCM.

Structured PICO

P
Population
Transgenic mouse model in which endogenous alpha-MHC was largely replaced with transgenically encoded beta-MHC, with a His(6) tag at the N terminus
I
Intervention
R403Q mutation in an alpha-MHC or beta-MHC backbone
C
Comparator
Wild type alpha-MHC and beta-MHC
O
Outcome
Actin filament velocity (in vitro motility assay) and actin-activated MgATPase activitysurrogate

The functional consequences of the R403Q mutation in familial hypertrophic cardiomyopathy depend fundamentally on whether it is expressed in an alpha- or beta-myosin heavy chain backbone.

Cite This Study

Lowey et al. (2008) studied this question.

synapsesocial.com/papers/6a1ea4e76b4935698da422c5https://doi.org/10.1074/jbc.m800554200
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Transgenic Mouse α- and β-Cardiac Myosins Containing the R403Q Mutation Show Isoform-dependent Transient Kinetic Differences2013 · 40 citations
  2. 2Hypertrophic cardiomyopathy R403Q mutation in rabbit β-myosin reduces contractile function at the molecular and myofibrillar levels2018 · 40 citations
  3. 3The R403Q Myosin Mutation Implicated in Familial Hypertrophic Cardiomyopathy Causes Disorder at the Actomyosin Interface2007 · 30 citations
  4. 4Altered Crossbridge Kinetics in the αMHC <sup>403/+</sup> Mouse Model of Familial Hypertrophic Cardiomyopathy1999 · 101 citations
  5. 5Contractility parameters of human β-cardiac myosin with the hypertrophic cardiomyopathy mutation R403Q show loss of motor function2015 · 127 citations