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Comprehensive Proteomic Analysis of Dysferlinopathy Unveiling Molecular Mechanisms and Biomarkers Linked to Pathological Progression.
CNS Neurosci Ther
October 2024
Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, China.
Article Synopsis
- This study aimed to enhance the understanding of dysferlinopathy by using high-resolution proteomics to analyze muscle biopsies and link protein expression changes with musculoskeletal pathology.
- Researchers examined tissue samples from 15 dysferlinopathy patients and age-matched controls, employing advanced techniques like TMT-labeled LC-MS/MS for proteomic profiling and various network analyses.
- The findings revealed 1600 differentially expressed proteins associated with dysferlinopathy, highlighting dysregulated pathways related to metabolism, immune response, and muscle function, and identifying key proteins linked to disease severity and muscle damage.
Multimodal three-dimensional characterization of murine skeletal muscle micro-scale elasticity, structure, and composition: Impact of dysferlinopathy, Duchenne muscular dystrophy, and age on three hind-limb muscles.
J Mech Behav Biomed Mater
December 2024
Department of Anatomy, Physiology and Human Biology, School of Human Sciences, The University of Western Australia, 35 Stirling Highway, Perth, Western Australia, 6009, Australia. Electronic address:
Skeletal muscle tissue function is governed by the mechanical properties and organization of its components, including myofibers, extracellular matrix, and adipose tissue, which can be modified by the onset and progression of many disorders. This study used a novel combination of quantitative micro-elastography and clearing-enhanced three-dimensional (3D) microscopy to assess 3D micro-scale elasticity and micro-architecture of muscles from two muscular dystrophies: dysferlinopathy and Duchenne muscular dystrophy, using male BLA/J and mdx mice, respectively, and their wild-type (WT) controls. We examined three muscles with varying proportions of slow- and fast-twitch myofibers: the soleus (predominantly slow), extensor digitorum longus (EDL; fast), and quadriceps (mixed), from BLA/J and WT mice aged 3, 10, and 24 months, and mdx and WT mice aged 10 months.
View Article and Find Full Text PDFPilot investigations into the mechanistic basis for adverse effects of glucocorticoids in dysferlinopathy.
Skelet Muscle
August 2024
Department of Anatomy, Physiology and Human Biology, School of Human Sciences, The University of Western Australia, Perth, WA, Australia.
Article Synopsis
- Dysferlinopathies are a type of muscular dystrophy caused by mutations that lead to a deficiency of the protein dysferlin, resulting in muscle wasting and inflammation, with no available treatments.
- Glucocorticoids, commonly used for reducing inflammation in muscular dystrophies, have been found to worsen conditions in dysferlinopathy patients by accelerating muscle strength loss.
- Research on mice with dysferlin deficiency revealed that glucocorticoid treatment exacerbates muscle damage and alters gene expression related to inflammation and metabolism, indicating the need for alternative therapeutic strategies.
Dysferlin Enables Tubular Membrane Proliferation in Cardiac Hypertrophy.
Circ Res
August 2024
Department of Cardiology and Pneumology (N.J.P., C.F., J.B.W., G.C.R., M.M., N.Z., Y.Z., J.W., L.L., A.A.G., D.K.-D., E.W., T.K., K.T., G.H., S.E.L., S.B.), University Medical Center Göttingen, Germany.
Background: Cardiac hypertrophy compensates for increased biomechanical stress of the heart induced by prevalent cardiovascular pathologies but can result in heart failure if left untreated. Here, we hypothesized that the membrane fusion and repair protein dysferlin is critical for the integrity of the transverse-axial tubule (TAT) network inside cardiomyocytes and contributes to the proliferation of TAT endomembranes during pressure overload-induced cardiac hypertrophy.
Methods: Stimulated emission depletion and electron microscopy were used to localize dysferlin in mouse and human cardiomyocytes.
A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report.
BMC Musculoskelet Disord
March 2024
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Background: Limb girdle muscular dystrophies (LGMDs) constitute a heterogeneous group of neuromuscular disorders with a very variable clinical presentation and overlapping traits. The clinical symptoms of LGMD typically appear in adolescence or early adulthood. Genetic variation in the dysferlin gene (DYSF) has been associated with LGMD.
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