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Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice.

TitleLoss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice.
Publication TypeJournal Article
Year of Publication2014
AuthorsDomenighetti, A. A., Chu P-H., Wu T., Sheikh F., Gokhin D. S., Guo L. T., Cui Z., Peter A. K., Christodoulou D. C., Parfenov M. G., Gorham J. M., Li D. Y., Banerjee I., Lai X., Witzmann F. A., Seidman C. E., Seidman J. G., Gomes A. V., G Shelton D., Lieber R. L., & Chen J.
JournalHum Mol Genet
Volume23
Issue1
Pagination209-25
Date Published2014 Jan 1
ISSN1460-2083
KeywordsAge Factors, Animals, Cell Differentiation, Female, Humans, Intracellular Signaling Peptides and Proteins, LIM Domain Proteins, Male, Mice, Mice, Transgenic, Motor Activity, Muscle Proteins, Muscle, Skeletal, Muscular Dystrophies, Muscular Dystrophy, Emery-Dreifuss, Myoblasts, Skeletal, Myofibrils
Abstract

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.

DOI10.1093/hmg/ddt412
Alternate JournalHum. Mol. Genet.
PubMed ID23975679
PubMed Central IDPMC3916749
Grant List5T32HL007444-27 / HL / NHLBI NIH HHS / United States
P30 AR061303 / AR / NIAMS NIH HHS / United States
R01 AR059334 / AR / NIAMS NIH HHS / United States
R01AR059334 / AR / NIAMS NIH HHS / United States
R21 AR061024 / AR / NIAMS NIH HHS / United States
R21AR061024 / AR / NIAMS NIH HHS / United States
R24 HD050837 / HD / NICHD NIH HHS / United States
T32 HL007444 / HL / NHLBI NIH HHS / United States

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