The role of inner nuclear membrane protein emerin in myogenesis

The FASEB Journal, Journal Year: 2025, Volume and Issue: 39(7)

Published: April 3, 2025

Abstract Emerin, a ubiquitously expressed inner nuclear membrane protein, plays central role in maintaining structure and genomic organization, regulating gene expression cellular signaling pathways. These functions are critical for proper myogenic differentiation closely linked to the pathology of Emery‐Dreifuss muscular dystrophy 1 (EDMD1), laminopathy caused by mutations EMD gene. along with other lamina proteins, modulates chromatin cell signaling, expression, mechanotransduction, processes essential muscle development homeostasis. Loss emerin function disrupts localization, causes dysregulated alters nucleoskeletal resulting impaired differentiation. Recent findings suggest that tethers repressive at envelope, process robust myogenesis. This review provides an in‐depth discussion emerin's multifaceted roles regulation, highlighting its importance disease progression.

Language: Английский

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Effects of dietary lipid levels on fiber quality, lipidomic profiles, antioxidant and inflammation responses in muscle of yellow catfish Pelteobagrus fulvidraco

Aquaculture Reports, Journal Year: 2023, Volume and Issue: 33, P. 101855 - 101855

Published: Nov. 24, 2023

The present study explore the impacts of dietary lipid levels on fiber quality, lipidomic profiles, antioxidant and inflammation responses in muscle yellow catfish. For this purpose, catfish were fed with low-fat (LF), medium-fat (MF) high-fat (HF) three different diets for 8 weeks, at end feeding trial, tissues taken analysis. We found that HF diet increased deposition, lipogenesis decreased fatty acid oxidation induced oxidative stress inflammatory response therefore suppressed proliferation differentiation myofibril. Lipidomic analysis detected 229 differentially abundant lipids (DALs) among groups, PCs, TGs/DGs PEs as predominant species. Moreover, significantly abundance SHP, LPE, PC, PE, PI, PG PS Overall, these findings revealed influence metabolism quality by affecting profile status catfish, which provided novel insight into nutrition freshwater fish.

Language: Английский

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Full-Length Transcriptome Analysis of Skeletal Muscle of Jiangquan Black Pig at Different Developmental Stages

International Journal of Molecular Sciences, Journal Year: 2024, Volume and Issue: 25(11), P. 6095 - 6095

Published: May 31, 2024

Skeletal muscle grows in response to a combination of genetic and environmental factors, its growth development influence the quality pork. Elucidating molecular mechanisms regulating skeletal is great significance both animal husbandry farm management. The Jiangquan black pig an excellent breed based on original Yimeng pig, importing genes Duroc for meat traits, cultivated through years scientific selection breeding. In this study, full-length transcriptome sequencing was performed three stages pigs, aiming study developmental changes pigs at different level screen key affecting pigs. We enrichment analysis showing differential expression constructed protein–protein interaction network with aim identifying core involved Notably, such as TNNI2, TMOD4, PLDIM3, MYOZ1, MYH1 may be potential regulators Our results contribute understanding breed, which will facilitate breeding efforts breeds meet needs livestock industry.

Language: Английский

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Effects of γ-aminobutyric acid (GABA) intake in combination with exercise on muscle strength in humans with decreased mobility: a randomized, double-blind, placebo-controlled, parallel-group study

Functional Foods in Health and Disease, Journal Year: 2024, Volume and Issue: 14(4), P. 248 - 269

Published: April 13, 2024

Background: Aging-related declines in skeletal muscle mass, strength, and physical function are related to instability, falls, frailty older people, resulting the need for nursing care. Objective: To investigate effect of oral γ-aminobutyric acid (GABA) intake exercise on parameters healthy subjects whose strength is beginning decline with age. Methods: A randomized, double-blind, placebo-controlled, parallel-group comparative study was conducted. Fifty (over 40 years old) were randomly divided into GABA (100 mg/day) or placebo food group. Subjects orally consumed respective substance every day 12 weeks. They performed daily “locomotion training” as devised by Japanese Orthopedic Society. Muscle fat knee extension measured. Results: The two groups had no significant differences mass. Compared group, group showed a improvement left right legs at pre-dose Week 0 (at 6, p = 0.02). In post hoc subgroup analysis sex, when compared leg Weeks 6 (p 0.001) 0.007), 0.02), stronger 0.001), weaker 12, 0.013) males. Conclusions: These results suggest that combined effective maintaining which decreases Furthermore, there safety issues GABA-containing during this study. Trial registration: UMIN-CTR: UMIN000050152. Keywords: γ-Aminobutyric acid, GABA, Knee Aging

Language: Английский

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The novel RNA-RNA activation of H19 on MyoD transcripts promoting myogenic differentiation of goat muscle satellite cells

International Journal of Biological Macromolecules, Journal Year: 2023, Volume and Issue: 253, P. 127341 - 127341

Published: Oct. 16, 2023

Language: Английский

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Transcriptomic Analysis on Pectoral Muscle of European Meat Pigeons and Shiqi Pigeons during Embryonic Development

Animals, Journal Year: 2023, Volume and Issue: 13(20), P. 3267 - 3267

Published: Oct. 19, 2023

In avian muscle development, embryonic development determines the number of myofibers after birth. Therefore, in this study, we investigated phenotypic differences and molecular mechanism pectoral European meat pigeon Mimas strain (later called pigeon) Shiqi on day 6 (E6), 10 (E10), 14 (E14) 1 birth (P1). The results showed that myofiber density was significantly higher than E6, with a diameter range 50~100 μm P1 were those pigeon. A total 204 differential expressed genes (DEGs) obtained from RNA-seq analysis comparison between breeds at same stage. DEGs related to found enrich cellular amino acid catabolism, carboxylic extracellular matrix receptor interaction, REDOX enzyme activity, calcium signaling pathway, ECM PPAR pathway other pathways. Using Cytoscape software create mutual mapping, identified 33 candidate genes. RT-qPCR performed verify 8 selected—DES, MYOD, MYF6, PTGS1, MYF5, MYH1, MSTN PPARG—and consistent RNA-seq. This study provides basic data for revealing distinct pigeons pigeons.

Language: Английский

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RNA variant assessment using transactivation and transdifferentiation

The American Journal of Human Genetics, Journal Year: 2024, Volume and Issue: 111(8), P. 1673 - 1699

Published: July 30, 2024

Understanding the impact of splicing and nonsense variants on RNA is crucial for resolution variant classification as well their suitability precision medicine interventions. This primarily enabled through studies involving transcriptomics followed by targeted assays using isolated from clinically accessible tissues (CATs) such blood or skin affected individuals. Insufficient disease gene expression in CATs does however pose a major barrier to based investigations, which we show relevant 1,436 Mendelian genes. We term these "silent" genes (SMGs), largest portion (36%) are associated with neurological disorders. developed two approaches induce SMG human dermal fibroblasts (HDFs) overcome this limitation, including CRISPR-activation-based transactivation fibroblast-to-neuron transdifferentiation. Initial screens 40 SMGs stimulated our development highly multiplexed system culminating 6- 90,000-fold induction 20/20 (100%) tested HDFs. Transdifferentiation HDFs directly neurons led 193/516 (37.4%) implicated disease. The magnitude isoform diversity following either transdifferentiation was comparable tissues. apply and/or combined short- long-read sequencing investigate that USH2A, SCN1A, DMD, PAK3 have derived Transactivation represent rapid, scalable functional genomic solutions impacting patient cell context.

Language: Английский

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Restoring rats’ endurance ability after forced physical exercise under various methods of allogeneic biomaterial implantation

Veterinarski glasnik, Journal Year: 2024, Volume and Issue: 78(1), P. 66 - 80

Published: Jan. 1, 2024

One of the manifestations skeletal muscle plasticity is its atrophy, as an adaptive response to catabolic stimuli. They can occur during forced exhausting physical activity. Injection local anesthetics, glucocorticosteroids, etc., widely used correct such pathological manifestations. The purpose study was reveal morphofunctional characteristics experimental animals after activity under conditions subcutaneous and combined methods administration allogeneic biomaterial (BMA). model anaerobic exercise swimming male rats with a load 10% body weight. After test, were divided into four groups. In first (experimental) group (n=10), BMA suspension administered only subcutaneously. second injected in combination, i.e., muscles limbs control groups, saline solution using similar methods. tissue collection on days 5 21, morphological, physiological, statistical studies carried out. use contributed increase tolerance, accelerated restoration tissue, hypertrophy, hyperplasia. There decrease inflammation, microcirculation ultrastructure fibers: contractile elements, energy balance cells, proliferative activation nuclear apparatus. Implantation promoted inhibition fibrosis, reduction number necrotic fibers, chemoattraction macrophages. greatest effectiveness determined biomaterial. has actoprotective effect.

Language: Английский

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Efficacy of Cystic Fibrosis Transmembrane Regulator Corrector C17 in Beta-Sarcoglycanopathy—Assessment of Patient’s Primary Myotubes

International Journal of Molecular Sciences, Journal Year: 2024, Volume and Issue: 25(24), P. 13313 - 13313

Published: Dec. 11, 2024

Limb–girdle muscular dystrophy type 2E/R4 (LGMD2E/R4) is a rare disease that currently has no cure. It caused by defects in the SGCB gene, mainly missense mutations, which cause impairment of sarcoglycan complex, membrane fragility, and progressive muscle degeneration. Here, we studied fate some β-sarcoglycan (β-SG) mutants, confirming that, like α-SG they are targeted for degradation through ubiquitin–proteasome system. These data, collected using HEK-293 cells expressing either I119F- or Y184C mutants β-SG, were subsequently confirmed primary myotubes derived from an LGMD2E/R4 patient carrying homozygous I92T mutation. The knowledge β-SG with amino acid substitution shares pathway allowed us to explore pharmacological approach successfully tested LGMD2D/R3. Several CFTR correctors, particularly corrector C17, preserved promoted localization at sarcolemma entire SG complex. presence despite containing mutated subunit, improved integrity, as evidenced reduced creatine kinase release under hypoosmotic stress. results suggest undergo proteasomal may be used potential therapeutic option recovering stabilizing complex patients sarcoglycanopathies.

Language: Английский

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SALIQ in Rhabdomyosarcoma: A Repurposed Multidrug Regimen to Augment Standard Treatments by Adding Simvastatin, All Trans Retinoic Acid, Lithium, Itraconazole, and Quercetin

Published: Sept. 28, 2023

Rhabdomyosarcoma is a cancer arising from arrested myogenic differentiation, seen mainly in children or adolescents. Metastatic rhabdomyosarcoma often fatal even with aggressive cytotoxic chemotherapies, surgery, and irradiation. SALIQ an acronym for multidrug augmentation regimen designed as adjunct to current chemotherapies. uses five common non-oncology drugs, repurposed general medicine use, promote malignant clone maturation inhibit growth. The drugs are: the cholesterol lowering drug simvastatin, acne tretinoin (ATRA), psychiatric lithium carbonate, antifungal itraconazole, food supplement quercetin. All are use non-cancer conditions, cheap, have eminently safe side effect profile, all preclinical evidence good rationale inhibiting

Language: Английский

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