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Genetics of Muscle Disease.
Vet Clin North Am Equine Pract
January 2025
Department of Veterinary Population Health and Reproduction, School of Veterinary Medicine, University of California Davis, Room 4206 Vet Med 3A One Shields Avenue, Davis, CA 95616, USA. Electronic address:
In the field of equine muscle disorders, many conditions have a genetic basis. Therefore, genetic testing is an important part of the diagnostic evaluation. Validated genetic tests are currently available for 5 equine muscle disorders: hyperkalemic periodic paralysis, malignant hyperthermia, glycogen branching enzyme disease, type 1 polysaccharide storage myopathy, and myosin heavy chain myopathy.
View Article and Find Full Text PDFMyofibrillar Myopathy.
Vet Clin North Am Equine Pract
January 2025
Department of Clinical Sciences, College of Veterinary Medicine and Biomedical Sciences, Colorado State University, Fort Collins, CO, USA. Electronic address:
Myofibrillar myopathy (MFM) is characterized by segmental disarray of myofibrils and ectopic accumulation of a protein called desmin. Previously thought to be a glycogen storage disease, MFM is now recognized as a stand-alone myopathy. Endurance Arabians with MFM usually present with exertional rhabdomyolysis (MFM-ER) at the end of races, elevated serum muscle enzymes, and myoglobinuria.
View Article and Find Full Text PDFManagement of presymptomatic juvenile patients with late-onset Pompe disease (LOPD).
Neuromuscul Disord
January 2025
ERN-NMD Center for Neuromuscular Disorders of Messina - Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy. Electronic address:
Late-onset Pompe disease (LOPD) includes patients from 1 year of age to adulthood. The vast heterogeneity in clinical manifestations and disease progression is not fully explained; however, a short disease duration and a young age seem to be good predictors of a better response to treatment. For this purpose, we investigated and followed up a cohort of 13 juvenile patients with LOPD from the clinical and therapeutic point of view, mainly pointing out the transition from presymptomatic to symptomatic status.
View Article and Find Full Text PDFHigh temperature ameliorates high-fat diet-induced obesity by promoting ceramide breakdown in skeletal muscle tissue.
Life Metab
October 2024
Key Laboratory of Agriculture Animal Genetics, Breeding and Reproduction of the Ministry of Education, College of Animal Science and Technology, Huazhong Agricultural University, Wuhan, Hubei 430070, China.
Obesity is considered an epidemic often accompanied by insulin resistance (IR). Heat treatment (HT) has been shown to prevent high-fat diet-induced IR in skeletal muscle, but the underlying mechanisms are poorly understood. In this study, we discovered that high temperature alleviated the hallmarks of obesity by promoting glycogen synthesis and lowering blood glucose levels in skeletal muscle tissue (SMT).
View Article and Find Full Text PDFExploring the Internal Environmental Changes of Muscle Cells and Apoptotic Phase of Mitochondria in Dry-Cured Loin Using Electrical Stimulation: Promoting the Precise Regulation of Loin Ham Quality.
J Agric Food Chem
January 2025
Guizhou Key Laboratory of New Quality Processing and Storage of Ecological Specialty Food; School of Liquor and Food Engineering, Guizhou University, Guiyang 550025, China.
Traditional dry-curing methods have a long cycle time and low efficiency, resulting in the inconsistent quality of dry-cured ham. By applying electrical stimulation (ES) technology in the dry-curing process, it was found that ES affected mitochondrial apoptosis by modulating the intracellular environment of muscle cells, which, in turn, enhanced the quality of dry-cured pork loin. Specifically, ES accelerated glycogen and ATP depletion, which led to a rapid decline in pH.
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