The extracellular matrix differentially directs myoblast motility and differentiation in distinct forms of muscular dystrophy: Dystrophic matrices alter myoblast motility
Matrix Biol. 2024 Apr 4:S0945-053X(24)00051-9. doi: 10.1016/j.matbio.2024.04.001. Online ahead of print.ABSTRACTExtracellular matrix (ECM) pathologic remodeling underlies many disorders, including muscular dystrophy. Tissue decellularization removes cellular components while leaving behind ECM components. We generated "on-slide" decellularized tissue slices from genetically distinct dystrophic mouse models. The ECM of dystrophin- and sarcoglycan-deficient muscles had marked thrombospondin 4 deposition, while dysferlin-deficient muscle had excess decorin. Annexins A2 and A6 were present on all dystrophic decellularized ECMs...
Source: Matrix Biology - April 6, 2024 Category: Molecular Biology Authors: Ashlee M Long Jason M Kwon GaHyun Lee Nina L Reiser Lauren A Vaught Joseph G O'Brien Patrick G T Page Michele Hadhazy Joseph C Reynolds Rachelle H Crosbie Alexis R Demonbreun Elizabeth M McNally Source Type: research
The extracellular matrix differentially directs myoblast motility and differentiation in distinct forms of muscular dystrophy: Dystrophic matrices alter myoblast motility
Matrix Biol. 2024 Apr 4:S0945-053X(24)00051-9. doi: 10.1016/j.matbio.2024.04.001. Online ahead of print.ABSTRACTExtracellular matrix (ECM) pathologic remodeling underlies many disorders, including muscular dystrophy. Tissue decellularization removes cellular components while leaving behind ECM components. We generated "on-slide" decellularized tissue slices from genetically distinct dystrophic mouse models. The ECM of dystrophin- and sarcoglycan-deficient muscles had marked thrombospondin 4 deposition, while dysferlin-deficient muscle had excess decorin. Annexins A2 and A6 were present on all dystrophic decellularized ECMs...
Source: Matrix Biology - April 6, 2024 Category: Molecular Biology Authors: Ashlee M Long Jason M Kwon GaHyun Lee Nina L Reiser Lauren A Vaught Joseph G O'Brien Patrick G T Page Michele Hadhazy Joseph C Reynolds Rachelle H Crosbie Alexis R Demonbreun Elizabeth M McNally Source Type: research
The extracellular matrix differentially directs myoblast motility and differentiation in distinct forms of muscular dystrophy: Dystrophic matrices alter myoblast motility
Matrix Biol. 2024 Apr 4:S0945-053X(24)00051-9. doi: 10.1016/j.matbio.2024.04.001. Online ahead of print.ABSTRACTExtracellular matrix (ECM) pathologic remodeling underlies many disorders, including muscular dystrophy. Tissue decellularization removes cellular components while leaving behind ECM components. We generated "on-slide" decellularized tissue slices from genetically distinct dystrophic mouse models. The ECM of dystrophin- and sarcoglycan-deficient muscles had marked thrombospondin 4 deposition, while dysferlin-deficient muscle had excess decorin. Annexins A2 and A6 were present on all dystrophic decellularized ECMs...
Source: Matrix Biology - April 6, 2024 Category: Molecular Biology Authors: Ashlee M Long Jason M Kwon GaHyun Lee Nina L Reiser Lauren A Vaught Joseph G O'Brien Patrick G T Page Michele Hadhazy Joseph C Reynolds Rachelle H Crosbie Alexis R Demonbreun Elizabeth M McNally Source Type: research
The extracellular matrix differentially directs myoblast motility and differentiation in distinct forms of muscular dystrophy: Dystrophic matrices alter myoblast motility
Matrix Biol. 2024 Apr 4:S0945-053X(24)00051-9. doi: 10.1016/j.matbio.2024.04.001. Online ahead of print.ABSTRACTExtracellular matrix (ECM) pathologic remodeling underlies many disorders, including muscular dystrophy. Tissue decellularization removes cellular components while leaving behind ECM components. We generated "on-slide" decellularized tissue slices from genetically distinct dystrophic mouse models. The ECM of dystrophin- and sarcoglycan-deficient muscles had marked thrombospondin 4 deposition, while dysferlin-deficient muscle had excess decorin. Annexins A2 and A6 were present on all dystrophic decellularized ECMs...
Source: Matrix Biology - April 6, 2024 Category: Molecular Biology Authors: Ashlee M Long Jason M Kwon GaHyun Lee Nina L Reiser Lauren A Vaught Joseph G O'Brien Patrick G T Page Michele Hadhazy Joseph C Reynolds Rachelle H Crosbie Alexis R Demonbreun Elizabeth M McNally Source Type: research
The extracellular matrix differentially directs myoblast motility and differentiation in distinct forms of muscular dystrophy: Dystrophic matrices alter myoblast motility
Matrix Biol. 2024 Apr 4:S0945-053X(24)00051-9. doi: 10.1016/j.matbio.2024.04.001. Online ahead of print.ABSTRACTExtracellular matrix (ECM) pathologic remodeling underlies many disorders, including muscular dystrophy. Tissue decellularization removes cellular components while leaving behind ECM components. We generated "on-slide" decellularized tissue slices from genetically distinct dystrophic mouse models. The ECM of dystrophin- and sarcoglycan-deficient muscles had marked thrombospondin 4 deposition, while dysferlin-deficient muscle had excess decorin. Annexins A2 and A6 were present on all dystrophic decellularized ECMs...
Source: Matrix Biology - April 6, 2024 Category: Molecular Biology Authors: Ashlee M Long Jason M Kwon GaHyun Lee Nina L Reiser Lauren A Vaught Joseph G O'Brien Patrick G T Page Michele Hadhazy Joseph C Reynolds Rachelle H Crosbie Alexis R Demonbreun Elizabeth M McNally Source Type: research
The extracellular matrix differentially directs myoblast motility and differentiation in distinct forms of muscular dystrophy: Dystrophic matrices alter myoblast motility
Matrix Biol. 2024 Apr 4:S0945-053X(24)00051-9. doi: 10.1016/j.matbio.2024.04.001. Online ahead of print.ABSTRACTExtracellular matrix (ECM) pathologic remodeling underlies many disorders, including muscular dystrophy. Tissue decellularization removes cellular components while leaving behind ECM components. We generated "on-slide" decellularized tissue slices from genetically distinct dystrophic mouse models. The ECM of dystrophin- and sarcoglycan-deficient muscles had marked thrombospondin 4 deposition, while dysferlin-deficient muscle had excess decorin. Annexins A2 and A6 were present on all dystrophic decellularized ECMs...
Source: Matrix Biology - April 6, 2024 Category: Molecular Biology Authors: Ashlee M Long Jason M Kwon GaHyun Lee Nina L Reiser Lauren A Vaught Joseph G O'Brien Patrick G T Page Michele Hadhazy Joseph C Reynolds Rachelle H Crosbie Alexis R Demonbreun Elizabeth M McNally Source Type: research
A Novel Deep Intronic Variant in LAMA2 Identified by RNA Sequencing
Laminin-211 is a heterotrimeric protein complex linking the muscle sarcolemma to the extracellular matrix and is composed of alpha2, beta1 and gamma1 chains. This protein is expressed in skeletal muscle, brain, and peripheral nerves [3]. LAMA2-related muscular dystrophy is caused by pathogenic variants of the alpha2 subunit of Laminin. Complete absence of Laminin-211 (also referred to as merosin) typically results in a severe phenotype and is caused by loss of function nonsense variants, while partial merosin deficiency has been reported to be caused by missense, splice site, and in-frame variants [4]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - April 5, 2024 Category: Neurology Authors: Djurdja Djordjevic, Issa Alawneh, Kimberly Amburgey, Kyoko E. Yuki, Lianna G Kyriakopoulou, Vilma Navickiene, Jim Stavropoulos, Grace Yoon, James J Dowling, Hernan Gonorazky Source Type: research
Diffusion tensor imaging reveals subclinical alterations in muscles of patients with becker muscular dystrophy
CONCLUSIONS: This method proved to be able to identify possible early or subclinical microstructural alterations in BMD muscles.ADVANCES IN KNOWLEDGE: This is to our knowledge the first imaging study to provide evidence of such microstructural alterations in muscles rated as normal in a conventional imaging-based assessment.PMID:38574384 | DOI:10.1093/bjr/tqae070 (Source: The British Journal of Radiology)
Source: The British Journal of Radiology - April 4, 2024 Category: Radiology Authors: Simone Nava Giorgio Conte Fabio M Triulzi Giacomo P Comi Francesca Magri Daniele Velardo Claudia M Cinnante Source Type: research
Muscle strength, quantity and quality and muscle fat quantity and their association with oxidative stress in patients with facioscapulohumeral muscular dystrophy: Effect of antioxidant supplementation
Free Radic Biol Med. 2024 Apr 2:S0891-5849(24)00166-7. doi: 10.1016/j.freeradbiomed.2024.04.001. Online ahead of print.ABSTRACTThe purpose of this study was to identify causes of quadriceps muscle weakness in facioscapulohumeral muscular dystrophy (FSHD). To this aim, we evaluated quadriceps muscle and fat volumes by magnetic resonance imaging and their relationships with muscle strength and oxidative stress markers in adult patients with FSHD (n = 32) and healthy controls (n = 7), and the effect of antioxidant supplementation in 20 of the 32 patients with FSHD (n = 10 supplementation and n = 10 placebo) (NCT01596803). Com...
Source: Free Radical Biology and Medicine - April 4, 2024 Category: Biology Authors: Vinicius Dias Wilson S ébastien Bommart Emilie Passerieux Claire Thomas Jo ël Pincemail Marie Christine Picot Jacques Mercier Florence Portet Sandrine Arbogast Dalila Laoudj-Chenivesse Source Type: research
Diffusion tensor imaging reveals subclinical alterations in muscles of patients with becker muscular dystrophy
CONCLUSIONS: This method proved to be able to identify possible early or subclinical microstructural alterations in BMD muscles.ADVANCES IN KNOWLEDGE: This is to our knowledge the first imaging study to provide evidence of such microstructural alterations in muscles rated as normal in a conventional imaging-based assessment.PMID:38574384 | DOI:10.1093/bjr/tqae070 (Source: The British Journal of Radiology)
Source: The British Journal of Radiology - April 4, 2024 Category: Radiology Authors: Simone Nava Giorgio Conte Fabio M Triulzi Giacomo P Comi Francesca Magri Daniele Velardo Claudia M Cinnante Source Type: research
Updates on Facioscapulohumeral Muscular Dystrophy (FSHD)
AbstractPurpose of reviewThis review aims to provide a summary of the pathophysiology, clinical presentation and management options for facioscapulohumeral dystrophy (FSHD). We discuss current management options and delve into updates about developments in targeted therapy.Recent findingsNew breakthroughs in FSHD research have led to a further understanding of aberrant DUX4 protein expression in the underlying pathophysiology of FSHD. This has paved the way for the development of targeted therapies aimed at targeting DUX4 expression or its downstream effects. Therapeutic strategies for FSHD primarily target DUX4 through th...
Source: Current Treatment Options in Neurology - April 2, 2024 Category: Neurology Source Type: research
Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1
Limb Girdle Muscular Dystrophy R1 (LGMDR1) is an autosomal recessive neuromuscular disease caused by mutations in the calpain-3 (CAPN3) gene. As clinical and pathological features may overlap with other types of ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 1, 2024 Category: Internal Medicine Authors: Sukanya Banerjee, Bishan Dass Radotra, Manni Luthra-Guptasarma and Manoj K Goyal Tags: Research Source Type: research
To VAD or Not VAD? How to Get to Heart Transplant in a Child with Duchenne Muscular Dystrophy
We present a clinical case dilemma of a 9-year-old child with DMD and dilated cardiomyopathy. (Source: The Journal of Heart and Lung Transplantation)
Source: The Journal of Heart and Lung Transplantation - April 1, 2024 Category: Transplant Surgery Authors: , A. Joong, K. Gambetta, M. Monge, P. Thrush Source Type: research
Initial Experience of Sodium-Glucose Cotransporter 2 Inhibitors in Adolescents with Heart Failure Due to Muscular Dystrophy
Introduction: Sodium-glucose co-transporter 2 inhibitors (SGLT2i) are novel agents in the management of adult heart failure (HF) with proven mortality benefit in large, randomized control trials. Now the standard of care in adult guideline-directed medical therapy (GDMT), SGLT2i are increasingly being used off-label in pediatric patients. Patients with Duchene muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), progressive X-linked myopathies that primarily affect males in their early teenage years, can develop HF secondary to dilated cardiomyopathy (DCM). (Source: The Journal of Heart and Lung Transplantation)
Source: The Journal of Heart and Lung Transplantation - April 1, 2024 Category: Transplant Surgery Authors: , E. Kramer, D. Weber, H. Ahmed, M.J. O'Connor, J.B. Edelson, J.J. Edwards, K.Y. Lin, J.W. Rossano, C.A. Wittlieb-Weber, J.H. Berger Source Type: research
Efficacy and Tolerability of Ivabradine for Cardiomyopathy in Patients with Duchenne Muscular Dystrophy
Int Heart J. 2024;65(2):211-217. doi: 10.1536/ihj.23-563.ABSTRACTDuchenne muscular dystrophy (DMD) is an intractable X-linked myopathy caused by dystrophin gene mutations. Patients with DMD suffer from progressive muscle weakness, inevitable cardiomyopathy, increased heart rate (HR), and decreased blood pressure (BP). The aim of this study was to clarify the efficacy and tolerability of ivabradine treatment for DMD cardiomyopathy.A retrospective analysis was performed in 11 patients with DMD, who received ivabradine treatment for more than 1 year. Clinical results were analyzed before (baseline), 6 months after, and 12 mon...
Source: International Heart Journal - March 31, 2024 Category: Cardiology Authors: Akiko Wakisaka Koichi Kimura Hiroyuki Morita Koki Nakanishi Masao Daimon Masanori Nojima Hideki Itoh Atsuhito Takeda Ruriko Kitao Tomihiro Imai Tetsuhiko Ikeda Takashi Nakajima Chigusa Watanabe Toshihiro Furukawa Ichiro Ohno Chiho Ishida Norihiko Takeda K Source Type: research
