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Total 83 results found since Jan 2013.

A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature
Lipodystrophy syndromes are characterized by a progressive metabolic impairment secondary to adipose tissue dysfunction and may have a genetic background. Congenital generalized lipodystrophy type 4 (CGL4) is an extremely rare subtype, caused by mutations in the polymerase I and transcript release factor (PTRF) gene. It encodes for a cytoplasmatic protein called caveolae-associated protein 1 (Cavin-1), which, together with caveolin 1, is responsible for the biogenesis of caveolae, being a master regulator of adipose tissue expandability. Cavin-1 is expressed in several tissues, including muscles, thus resulting, when dysfu...
Source: Frontiers in Endocrinology - July 12, 2023 Category: Endocrinology Source Type: research

Effects of high-intensity interval training (HIIT) on skeletal muscle atrophy, function, and myokine profile in diabetic myopathy
CONCLUSION: Current findings show that diabetic myopathy develops earlier in glycolytic-fast-twitch fibers(EDL) than in oxidative-slow-twitch fibers(soleus). Furthermore, HIIT application prevents atrophy in skeletal muscle, increases resistance to fatigue, and has an anti-inflammatory effect.NEW FINDINGS: The current study analyzes the myokine profile and skeletal muscle function under the effect of diabetes HIIT-type exercise. We also measured maximal exercise capacity and tailored the exercise program individually according to the result. Diabetic myopathy is an important complication of diabetes yet still, it is not un...
Source: Cytokine - June 17, 2023 Category: Molecular Biology Authors: Ye şim Özçatal F ırat Akat Yakup Tatar Hakan F ıçıcılar Bilge Serdaro ğlu Ferda Topal Çelikkan Metin Ba ştuğ Source Type: research

P.188 Early growth and metabolic abnormalities in zebrafish and cellular models of SELENON-related myopathy
SELENON-Related Myopathy (SELENON-RM) is a rare genetic disease caused by recessive mutations of the SELENON gene. It is characterized by the development of rigid spine, axial muscle weakness, and respiratory insufficiency. The most common histopathological feature in SELENON-RM patients is the presence of minicores in skeletal muscle biopsies, which are concentrated areas of mitochondrial depletion within fibers. Natural history data suggest that insulin-resistance as well as altered body mass index (BMI) are correlated with SELENON-RM prognosis.
Source: Neuromuscular Disorders - October 1, 2022 Category: Neurology Authors: P. Barraza-Flores, B. Moghadaszadeh, B. Mitchell, E. Troiano, A. Mansur, V. Gupta Source Type: research

Advances in the Treatment of Thyroid Eye Disease Associated Extraocular Muscle Myopathy and Optic Neuropathy
AbstractPurpose of ReviewTo review emerging treatments for thyroid eye disease (TED) associated extraocular muscle myopathy and dysthyroid optic neuropathy (DON).Recent FindingsEmerging targeted biologic therapies may alter the disease course in TED. Teprotumumab, a type I insulin-like growth factor receptor inhibitor, is the most recent addition to the treatments available for TED-associated extraocular muscle myopathy causing diplopia. Small studies also suggest a potential therapeutic benefit for DON. Various recent studies have also expanded our knowledge on conventional TED therapies.SummaryThe therapeutic landscape o...
Source: Current Neurology and Neuroscience Reports - May 26, 2022 Category: Neuroscience Source Type: research

Diabetic sarcopenia: metabolic and molecular appraisal
AbstractMyopathy is the missing slot from the routine clinical checkup for diabetic complications. Similarly, its pathophysiological, metabolic, and molecular bases are insufficiently explored. In this review, the above issues are highlighted with a focus on skeletal muscle atrophy (also described as diabetic sarcopenia), in contrast to the normal histological, physiological, and molecular features of the muscles. Literature search using published data from different online resources was used. Several diabetic myopathy etiological factors are discussed explicitly including; inflammation and immunological responses, with em...
Source: Acta Diabetologica - April 16, 2022 Category: Endocrinology Source Type: research

Regulation of 11 β-HSD1 by GH/IGF-1 in key metabolic tissues may contribute to metabolic disease in GH deficient patients
Growth Horm IGF Res. 2021 Nov 17;62:101440. doi: 10.1016/j.ghir.2021.101440. Online ahead of print.ABSTRACTPatients with growth hormone deficiency (GHD) have many clinical features in common with Cushing's syndrome (glucocorticoid excess) - notably visceral obesity, insulin resistance, muscle myopathy and increased vascular mortality. Within key metabolic tissues, 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) converts cortisone to the active glucocorticoid, cortisol (11-dehydrocorticosterone and corticosterone in rodents respectively), and thus amplifies local glucocorticoid action. We hypothesize that 11β-HSD1 exp...
Source: Growth Hormone and IGF Research - November 23, 2021 Category: Endocrinology Authors: Stuart A Morgan Darlene E Berryman Edward O List Gareth G Lavery Paul M Stewart John J Kopchick Source Type: research

Myostatin serum levels in children with type 1 diabetes mellitus
CONCLUSION: Children with T1DM have significantly higher serum levels of myostatin compared to healthy children of the same age and BMI SD. The elevated myostatin in T1DM could reflect impaired muscle function and/or glucose metabolism, or could represent a homeostatic mechanism.PMID:34486100 | DOI:10.1007/s42000-021-00317-y
Source: Hormones - September 6, 2021 Category: Endocrinology Authors: Alexandra Efthymiadou Ioannis-Anargyros Vasilakis Aristeidis Giannakopoulos Dionisios Chrysis Source Type: research

Therapeutic advancement of simvastatin-loaded solid lipid nanoparticles (SV-SLNs) in treatment of hyperlipidemia and attenuating hepatotoxicity, myopathy and apoptosis: Comprehensive study
This study set out to optimize simvastatin (SV) in lipid nanoparticles (SLNs) to improve bioavailability, efficacy and alleviate adverse effects. Simvastatin-loaded solid lipid nanoparticles (SV-SLNs) were prepared by hot-melt ultrasonication method and optimized by box-Behnken experimental design. Sixty Wister albino rats were randomly assigned into six groups and treated daily for 16 weeks: control group, the group fed with 20 g of high-fat diet (HFD), group treated with vehicle (20 mg/kg, P.O.) for last four weeks, group treated with HFD and SV (20 mg/kg, P.O.) / or SV-SLNs (20 mg/kg/day, P.O.) / or SV-SLNs (5 mg/kg, P....
Source: Biomedicine and pharmacotherapy = Biomedecine and pharmacotherapie - July 10, 2021 Category: Drugs & Pharmacology Authors: Hagar B Abo-Zalam Ezzeldein S El-Denshary Rania M Abdelsalam Islam A Khalil Mahmoud M Khattab Mohamed A Hamzawy Source Type: research

C2C12 myoblasts are more sensitive to the toxic effects of simvastatin than myotubes and show impaired proliferation and myotube formation
In conclusion, myoblasts were more susceptible to the toxic effects of simvastatin and simvastatin impaired myoblast proliferation and myotube formation. Impaired muscle regeneration may represent a new mechanism of statin myotoxicity.PMID:34111424 | DOI:10.1016/j.bcp.2021.114649
Source: Biochemical Pharmacology - June 10, 2021 Category: Drugs & Pharmacology Authors: Gerda M Sanvee Jamal Bouitbir Stephan Kr ähenbühl Source Type: research