Skeletal muscle atrophy is induced by <i>Fbxw7β</i> via atrogene upregulation

Shin, Kyungshin; Ko, Young Gyu; Jeong, Jae‐Weon; Kwon, Heechung

doi:10.1002/cbin.10713

Cited by 4 publications

(2 citation statements)

References 29 publications

(46 reference statements)

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“…In line with in vitro data, mice overexpressing the β-isoform of Fbxw7 undergo skeletal muscle atrophy, which is mediated by the up-regulation of major atrogene markers such as Fbxo32 and MuRF-1 [148]. These results point out the importance of the developmental down-regulation of Fbxw7β for proper myogenesis and muscle growth [147].…”

Section: Fbxw7supporting

confidence: 72%

The Role of Cullin-RING Ligases in Striated Muscle Development, Function, and Disease

Blondelle

Biju

Lange

2020

IJMS

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The well-orchestrated turnover of proteins in cross-striated muscles is one of the fundamental processes required for muscle cell function and survival. Dysfunction of the intricate protein degradation machinery is often associated with development of cardiac and skeletal muscle myopathies. Most muscle proteins are degraded by the ubiquitin–proteasome system (UPS). The UPS involves a number of enzymes, including E3-ligases, which tightly control which protein substrates are marked for degradation by the proteasome. Recent data reveal that E3-ligases of the cullin family play more diverse and crucial roles in cross striated muscles than previously anticipated. This review highlights some of the findings on the multifaceted functions of cullin-RING E3-ligases, their substrate adapters, muscle protein substrates, and regulatory proteins, such as the Cop9 signalosome, for the development of cross striated muscles, and their roles in the etiology of myopathies.

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Section: Fbxw7supporting

confidence: 72%

The Role of Cullin-RING Ligases in Striated Muscle Development, Function, and Disease

Blondelle

Biju

Lange

2020

IJMS

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“…51 The same group additionally showed that overexpression of Fbxw7b induces the expression of myogenin and major atrogene markers (atrogin-1 and MuRF-1) and eventually reduces myoblast differentiation. 52 Trio ES in individual BAB9309 revealed a de novo frameshift deletion (GenBank: NM_012231; c.4283_4295del [p.Leu1428Glnfs*15]) in PR domain-containing protein 2 (PRDM2 [MIM: 601196]). The fraction of variant reads (12/150, 8.0%) suggested somatic mosaicism, an experimental conclusion that was supported by an independent orthogonal experimental approach that used ddPCR ( Figure 7A).…”

Section: Possibly Causative Arthrogryposis-associated Genesmentioning

confidence: 99%

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

Pehlivan

Bayram

Güneş

et al. 2019

The American Journal of Human Genetics

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Arthrogryposis is a clinical finding that is present either as a feature of a neuromuscular condition or as part of a systemic disease in over 400 Mendelian conditions. The underlying molecular etiology remains largely unknown because of genetic and phenotypic heterogeneity. We applied exome sequencing (ES) in a cohort of 89 families with the clinical sign of arthrogryposis. Additional molecular techniques including array comparative genomic hybridization (aCGH) and Droplet Digital PCR (ddPCR) were performed on individuals who were found to have pathogenic copy number variants (CNVs) and mosaicism, respectively. A molecular diagnosis was established in 65.2% (58/89) of families. Eleven out of 58 families (19.0%) showed evidence for potential involvement of pathogenic variation at more than one locus, probably driven by absence of heterozygosity (AOH) burden due to identity-by-descent (IBD). RYR3, MYOM2, ERGIC1, SPTBN4, and ABCA7 represent genes, identified in two or more families, for which mutations are probably causative for arthrogryposis. We also provide evidence for the involvement of CNVs in the etiology of arthrogryposis and for the idea that both mono-allelic and bi-allelic variants in the same gene cause either similar or distinct syndromes. We were able to identify the molecular etiology in nine out of 20 families who underwent reanalysis. In summary, our data from family-based ES further delineate the molecular etiology of arthrogryposis, yielded several candidate disease-associated genes, and provide evidence for mutational burden in a biological pathway or network. Our study also highlights the importance of reanalysis of individuals with unsolved diagnoses in conjunction with sequencing extended family members.

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Fbxw7β is an inducing mediator of dexamethasone-induced skeletal muscle atrophy in vivo with the axis of Fbxw7β-myogenin–atrogenes

Shin

Jeong

et al. 2018

Mol Biol Rep

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Muscle atrophy is induced by several pathways, e.g., it can be attributed to inherited cachectic symptoms, genetic disorders, sarcopenia, or chronic side effects of treatments. However, the underlying regulatory mechanisms that contribute to muscle atrophy have not been fully elucidated. In this study, we evaluated the role of Fbxw7β, an ubiquitin E3 ligase, in a dexamethasone-induced muscle atrophy model. In this model, endogenous Fbxw7β was up-regulated; furthermore, the Fbxw7β-myogenin-atrogene axis was upregulated, supporting our previous results linking Fbxw7β to muscle atrophy in vitro. Also, muscle atrophy was associated with the Fbxw7β-myogenin-atrogene axis and the down-regulation of Dach2, a repressor of myogenin. Taken together, these results suggest that the ubiquitin E3 ligase Fbxw7β and the Fbxw7β-myogenin-atrogene axis have important roles in a dexamethasone-induced muscle atrophy model in vivo and in vitro. Additionally, the Fbxw7β-Dach2-myogenin-atrogene axis is a potential mechanism underlying muscle atrophy in cases of abnormal Fbxw7β expression-induced muscle atrophy or myogenic degenerative disease.

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Skeletal muscle atrophy is induced by Fbxw7β via atrogene upregulation

Cited by 4 publications

References 29 publications

The Role of Cullin-RING Ligases in Striated Muscle Development, Function, and Disease

The Role of Cullin-RING Ligases in Striated Muscle Development, Function, and Disease

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

Fbxw7β is an inducing mediator of dexamethasone-induced skeletal muscle atrophy in vivo with the axis of Fbxw7β-myogenin–atrogenes

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