Key result
Adult heterozygous mice carrying the MYH4L342Q mutation exhibited higher muscle fiber stiffness and altered reflections upon maximal Ca2+ activation compared to wild-type mice.
Population
Adult heterozygous mice (Myh4(arl)/+) carrying the L342Q mutation in the MYH4 gene
Comparison
MYH4(L342Q) mutation vs Age-matched wild-type (WT) mice
Design
Preclinical
Authors
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Higher stiffness in MYH4 mutant fibers may drive myopathy; leaves open relevance to human cardiac phenotypes.
The MYH4L342Q mutation increases the fraction of strongly bound cross-bridges in skeletal muscle, providing a molecular mechanism for the hypercontraction and muscle disruption seen in myosinopathies.
Lindqvist et al. (2013) studied Myosinopathies. MYH4L342Q mutation (Myh4(arl)/+ genotype) vs. Age-matched wild-type (WT) animals was evaluated on Muscle fiber stiffness and X-ray diffraction patterns upon maximal Ca(2+) activation. Adult heterozygous mice carrying the MYH4L342Q mutation exhibited higher muscle fiber stiffness and altered reflections upon maximal Ca2+ activation compared to wild-type mice.
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