Skeletal muscle differentiation is a multistep process, which begins with the commitment of multi-potent mesodermal precursor cells to the muscle fate. These committed cells, the myoblasts, then differentiate and fuse into multinucleated myotubes. The final step of muscle differentiation is the maturation of differentiated myotubes into myofibres. Skeletal muscle development requires the coordinated expression of various transcription factors like the members of the myocyte enhancer binding-factor 2 family and the muscle regulatory factors. These transcription factors, in collaboration with chromatin-remodelling complexes, act in specific combinations and within complex transcriptional regulatory networks to achieve skeletal myogenesis. Additional factors involved in the epigenetic regulation of this process continue to be discovered. In this review, the authors discuss the recent discoveries in the epigenetic regulation of myogenesis. They also summarise the role of chromatin-modifying enzymes regulating muscle gene expression. These different factors are often involved in multiple steps of muscle differentiation and have redundant activities. Altogether, the recent findings have allowed a better understanding of myogenesis and have raised new hopes for the pharmacological development of new therapies aimed at muscle degeneration diseases, such as myotonic dystrophy or Duchenne muscular dystrophy.
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http://dx.doi.org/10.1517/14728222.10.6.923 | DOI Listing |
Am Fam Physician
January 2025
Western University Schulich School of Medicine and Dentistry, London, Ontario, Canada.
Vision loss affects more than 7 million Americans and impacts quality of life, independence, social functioning, and overall health. Common and dangerous conditions causing sudden vision loss include acute angle-closure glaucoma, retinal detachment, retinal artery occlusion, giant cell arteritis, and optic neuritis. Acute angle-closure glaucoma features ocular pain, headache, and nausea; treatment includes pilocarpine eye drops, oral or intravenous acetazolamide, and intravenous mannitol.
View Article and Find Full Text PDFFEBS J
January 2025
Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA.
Pathogenic variants in HMGCR were recently linked to a limb-girdle muscular dystrophy (LGMD) phenotype. The protein product HMG CoA reductase (HMGCR) catalyzes a key component of the cholesterol synthesis pathway. The two other muscle diseases associated with HMGCR, statin-associated myopathy (SAM) and autoimmune anti-HMGCR myopathy, are not inherited in a Mendelian pattern.
View Article and Find Full Text PDFGland Surg
December 2024
Department of Pathology, Seoul National University Bundang Hospital, Seongnam, Korea.
Background: A right adrenal gland may present in the form of adreno-hepatic fusion (AHF), in which the adrenal cells are interspersed among the hepatocytes without septation. This rare, naturally-occurring phenomenon may be associated with preoperative misdiagnosis. We present two cases of adrenal tumor in patients with AHF that were misdiagnosed, despite thorough preoperative work-ups.
View Article and Find Full Text PDFNeuropathol Appl Neurobiol
February 2025
Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Jinan, Shandong, China.
Background: Progressive external ophthalmoplegia (PEO) is a classic manifestation of mitochondrial disease. However, the link between its genetic characteristics and clinical presentations remains poorly investigated.
Methods: We analysed the clinical, pathological and genetic characteristics of a large cohort of patients with PEO, based on the type of their mtDNA variations.
Muscle Nerve
January 2025
Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei Province, China.
Introduction/aims: Tofacitinib, a first-generation Janus kinase (JAK) 1/3 inhibitor, is commonly used for treating ulcerative colitis and rheumatoid arthritis. However, its role in myasthenia gravis (MG) remains unclear. This study aimed to evaluate the immunomodulatory effects of tofacitinib on experimental autoimmune myasthenia gravis (EAMG) and peripheral blood mononuclear cells (PBMCs) from patients with MG.
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