
Recent human genetic studies have provided evidences that sporadic or inherited missense mutations in four-and-a-half LIM domain protein 1 (FHL1), resulting in alterations in FHL1 protein expression, are associated with rare congenital myopathies, including reducing body myopathy and Emery-Dreifuss muscular dystrophy. However, it remains to be clarified whether mutations in FHL1 cause skeletal muscle remodeling owing to gain- or loss of FHL1 function. In this study, we used FHL1-null mice lacking global FHL1 expression to evaluate loss-of-function effects on skeletal muscle homeostasis. Histological and functional analyses of soleus, tibialis anterior and sternohyoideus muscles demonstrated that FHL1-null mice develop an age-dependent myopathy associated with myofibrillar and intermyofibrillar (mitochondrial and sarcoplasmic reticulum) disorganization, impaired muscle oxidative capacity and increased autophagic activity. A longitudinal study established decreased survival rates in FHL1-null mice, associated with age-dependent impairment of muscle contractile function and a significantly lower exercise capacity. Analysis of primary myoblasts isolated from FHL1-null muscles demonstrated early muscle fiber differentiation and maturation defects, which could be rescued by re-expression of the FHL1A isoform, highlighting that FHL1A is necessary for proper muscle fiber differentiation and maturation in vitro. Overall, our data show that loss of FHL1 function leads to myopathy in vivo and suggest that loss of function of FHL1 may be one of the mechanisms underlying muscle dystrophy in patients with FHL1 mutations.
Male, 570, Myoblasts, Skeletal, 610, Muscle Proteins, Mice, Transgenic, Motor Activity, Medical and Health Sciences, Transgenic, Muscular Dystrophies, Myoblasts, Mice, Rare Diseases, Myofibrils, Genetics, 2.1 Biological and endogenous factors, Animals, Humans, genetics, Muscular Dystrophy, Muscle, Skeletal, Pediatric, Genetics & Heredity, Emery-Dreifuss, Age Factors, Intracellular Signaling Peptides and Proteins, Cell Differentiation, Skeletal, Biological Sciences, LIM Domain Proteins, Muscular Dystrophy, Emery-Dreifuss, Musculoskeletal, Muscle, pathology, Female, metabolism
Male, 570, Myoblasts, Skeletal, 610, Muscle Proteins, Mice, Transgenic, Motor Activity, Medical and Health Sciences, Transgenic, Muscular Dystrophies, Myoblasts, Mice, Rare Diseases, Myofibrils, Genetics, 2.1 Biological and endogenous factors, Animals, Humans, genetics, Muscular Dystrophy, Muscle, Skeletal, Pediatric, Genetics & Heredity, Emery-Dreifuss, Age Factors, Intracellular Signaling Peptides and Proteins, Cell Differentiation, Skeletal, Biological Sciences, LIM Domain Proteins, Muscular Dystrophy, Emery-Dreifuss, Musculoskeletal, Muscle, pathology, Female, metabolism
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