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In vivo characterization of skeletal muscle function in nebulin‐deficient mice
Author(s) -
Gineste Charlotte,
Ogier Augustin C.,
Varlet Isabelle,
Hourani Zaynab,
Bernard Monique,
Granzier Henk,
Bendahan David,
Gondin Julien
Publication year - 2020
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.26798
Subject(s) - nebulin , myosin , nemaline myopathy , medicine , endocrinology , skeletal muscle , biology , knockout mouse , atrophy , chemistry , myocyte , sarcomere , microbiology and biotechnology , titin , receptor
The conditional nebulin knockout mouse is a new model mimicking nemaline myopathy, a rare disease characterized by muscle weakness and rods within muscle fibers. We investigated the impact of nebulin (NEB) deficiency on muscle function in vivo . Methods Conditional nebulin knockout mice and control littermates were studied at 10 to 12 months. Muscle function (force and fatigue) and anatomy (muscles volume and fat content) were measured in vivo . Myosin heavy chain (MHC) composition and nebulin (NEB) protein expression were assessed by protein electrophoresis. Results Conditional nebulin knockout mice displayed a lower NEB level (−90%) leading to a 40% and 45% reduction in specific maximal force production and muscles volume, respectively. Nebulin deficiency was also associated with higher resistance to fatigue and increased MHC I content. Discussion Adult nebulin‐deficient mice displayed severe muscle atrophy and weakness in vivo related to a low NEB content but an improved fatigue resistance due to a slower contractile phenotype.