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https://www.readbyqxmd.com/read/28821969/interleukin-1-receptor-like-1-protein-st2-is-a-potential-biomarker-for-cardiomyopathy-in-duchenne-muscular-dystrophy
#1
Julia Anderson, Haeri Seol, Heather Gordish-Dressman, Yetrib Hathout, Christopher F Spurney
Duchenne muscular dystrophy (DMD) is a rare, fatal X-linked disorder characterized by the lack of dystrophin, a key sarcolemma muscle protein. Cardiac failure is a significant cause of death in DMD subjects. The purpose of our research was to identify potential cardiac serum biomarkers associated with DMD cardiomyopathy. This is an observational, case-controlled study using subjects from the CINRG DMD natural history study with cardiomyopathy (ejection fraction (EF) <55%; shortening fraction (SF) <28%), subjects without cardiomyopathy (EF ≥ 55%; SF ≥ 28%) compared to normal healthy volunteer subjects...
August 18, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28808339/direct-reprogramming-of-fibroblasts-into-skeletal-muscle-progenitor-cells-by-transcription-factors-enriched-in-undifferentiated-subpopulation-of-satellite-cells
#2
Naoki Ito, Isao Kii, Noriaki Shimizu, Hirotoshi Tanaka, Takeda Shin'ichi
Satellite cells comprise a functionally heterogeneous population of stem cells in skeletal muscle. Separation of an undifferentiated subpopulation and elucidation of its molecular background are necessary to identify the reprogramming factors to induce skeletal muscle progenitor cells. In this study, we found that intracellular esterase activity distinguishes a subpopulation of cultured satellite cells with high stemness using esterase-sensitive cell staining reagent, calcein-AM. Gene expression analysis of this subpopulation revealed that defined combinations of transcription factors (Pax3, Mef2b, and Pitx1 or Pax7, Mef2b, and Pitx1 in embryonic fibroblasts, and Pax7, Mef2b and MyoD in adult fibroblasts) reprogrammed fibroblasts into skeletal muscle progenitor cells...
August 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28808269/delivery-of-large-transgene-cassettes-by-foamy-virus-vector
#3
Nathan Paul Sweeney, Jinhong Meng, Hayley Patterson, Jennifer E Morgan, Myra McClure
Viral vectors are effective tools in gene therapy, but their limited packaging capacity can be restrictive. Larger clinically-relevant vectors are needed. Foamy viruses have the largest genomes among mammalian retroviruses and their vectors have shown potential for gene therapy in preclinical studies. However, the effect of vector genome size on titre has not been determined. We inserted increasing lengths of the dystrophin open reading frame in a foamy virus vector and quantified packaged vector RNA and integrated DNA...
August 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28806929/myelination-is-delayed-during-postnatal-brain-development-in-the-mdx-mouse-model-of-duchenne-muscular-dystrophy
#4
Azeez Aranmolate, Nathaniel Tse, Holly Colognato
BACKGROUND: In Duchenne muscular dystrophy (DMD), the loss of the dystrophin component of the dystrophin-glycoprotein complex (DGC) compromises plasma membrane integrity in skeletal muscle, resulting in extensive muscle degeneration. In addition, many DMD patients exhibit brain deficits in which the cellular etiology remains poorly understood. We recently found that dystroglycan, a receptor component of the DGC that binds intracellularly to dystrophin, regulates the development of oligodendrocytes, the myelinating glial cells of the brain...
August 14, 2017: BMC Neuroscience
https://www.readbyqxmd.com/read/28803268/proteomic-profiling-of-the-dystrophin-complex-and-membrane-fraction-from-dystrophic-mdx-muscle-reveals-decreases-in-the-cytolinker-desmoglein-and-increases-in-the-extracellular-matrix-stabilizers-biglycan-and-fibronectin
#5
Sandra Murphy, Heinrich Brinkmeier, Mirjam Krautwald, Michael Henry, Paula Meleady, Kay Ohlendieck
The almost complete loss of the membrane cytoskeletal protein dystrophin and concomitant drastic reduction in dystrophin-associated glycoproteins are the underlying mechanisms of the highly progressive neuromuscular disorder Duchenne muscular dystrophy. In order to identify new potential binding partners of dystrophin or proteins in close proximity to the sarcolemmal dystrophin complex, proteomic profiling of the isolated dystrophin-glycoprotein complex was carried out. Subcellular membrane fractionation and detergent solubilisation, in combination with ion exchange, lectin chromatography and density gradient ultracentrifugation, was performed to isolate a dystrophin complex-enriched fraction...
August 12, 2017: Journal of Muscle Research and Cell Motility
https://www.readbyqxmd.com/read/28802771/dmd-and-west-syndrome
#6
Ruxandra Cardas, Catrinel Iliescu, Nina Butoianu, Andreea Seferian, Svetlana Gataullina, Elena Gargaun, Juliette Nectoux, Thierry Bienvenu, Dana Craiu, Teresa Gidaro, Laurent Servais
Duchenne Muscular Dystrophy (DMD) is the most frequent muscular dystrophy in childhood, with a worldwide incidence of one in 5000 live male births. It is due to mutations in the dystrophin gene leading to absence of full-length dystrophin protein. Central nervous system involvement is well-known in Duchenne Muscular Dystrophy. The multiple dystrophin isoforms expressed in brain have important roles in cerebral development and functioning. The association of Duchenne Muscular Dystrophy with seizures has been reported, and there is a higher prevalence of epilepsy in Duchenne Muscular Dystrophy patients (between 6...
July 19, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28796573/development-of-exon-skipping-therapies-for-duchenne-muscular-dystrophy-a-critical-review-and-a-perspective-on-the-outstanding-issues
#7
Annemieke Aartsma-Rus, Volker Straub, Robert Hemmings, Manuel Haas, Gabriele Schlosser-Weber, Violeta Stoyanova-Beninska, Eugenio Mercuri, Francesco Muntoni, Bruno Sepodes, Elizabeth Vroom, Pavel Balabanov
Duchenne muscular dystrophy (DMD) is a rare, severe, progressive muscle-wasting disease leading to disability and premature death. Patients lack the muscle membrane-stabilizing protein dystrophin. Antisense oligonucleotide (AON)-mediated exon skipping is a therapeutic approach that aims to induce production of partially functional dystrophins. Recently, an AON targeting exon 51 became the first of its class to be approved by the United States regulators [Food and Drug Administration (FDA)] for the treatment of DMD...
August 10, 2017: Nucleic Acid Therapeutics
https://www.readbyqxmd.com/read/28793824/dual-therapy-deflazacort-doxycyclyne-is-better-than-deflazacort-monotherapy-to-alleviate-cardiomyopathy-in-dystrophin-deficient-mdx-mice
#8
Juliano Alves Pereira, Adriana Fogagnolo Mauricio, Maria Julia Marques, Humberto Santo Neto
Cardiomyopathy related to the absence of dystrophin is an important feature in Duchenne muscular dystrophy (DMD) and in the mdx mouse. Doxycycline (DOX) could be a potential therapy for mdx skeletal muscles dystrophy. We investigated whether the corticoid deflazacort (DFZ) plus DOX could improve cardiac mdx dystrophy better than DFZ alone, later (17 months) in dystrophy. Mdx mice (8 months old) received DFZ/DOX or DFZ for 9 months. The combined therapy was greater than DFZ in reducing fibrosis (60% decrease with DFZ/DOX and 40% with DFZ alone) in the right ventricle and transforming growth factor β levels (6...
September 2017: Journal of Cardiovascular Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/28793798/dual-aav-gene-therapy-for-duchenne-muscular-dystrophy-with-a-7-kb-mini-dystrophin-gene-in-the-canine-model
#9
Kasun Kodippili, Chady Hakim, Xiufang Pan, Hsiao T Yang, Yongping YUe, Yadong Zhang, Jin-Hong Shin, Nora N Yang, Dongsheng Duan
Dual adeno-associated virus (AAV) technology was developed in 2000 to double the packaging capacity of the AAV vector. The proof-of-principle has been demonstrated in various mouse models. Yet, pivotal evidence is lacking in large animal models of human diseases. Here we report expression of a 7-kb canine ∆H2-R15 mini-dystrophin gene using a pair of dual AAV vectors in the canine model of Duchenne muscular dystrophy (DMD). The ∆H2-R15 minigene is by far the most potent synthetic dystrophin gene engineered for DMD gene therapy...
August 10, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28790199/in-vivo-genome-editing-restores-dystrophin-expression-and-cardiac-function-in-dystrophic-mice
#10
Mona El Refaey, Li Xu, Yandi Gao, Benjamin D Canan, Tm A Adesanya, Sarah C Warner, Keiko Akagi, David E Symer, Peter J Mohler, Jianjie Ma, Paul M Janssen, Renzhi Han
Rationale: Duchenne muscular dystrophy (DMD) is a severe inherited form of muscular dystrophy caused by mutations in the reading frame of the dystrophin gene disrupting its protein expression. Dystrophic cardiomyopathy is a leading cause of death in DMD patients and currently no effective treatment exists to halt its progression. Recent advancement in genome editing technologies offers a promising therapeutic approach in restoring dystrophin protein expression. However, the impact of this approach on DMD cardiac function has yet to be evaluated...
August 8, 2017: Circulation Research
https://www.readbyqxmd.com/read/28781947/structural-flexibility-of-human-%C3%AE-dystroglycan
#11
Sonia Covaceuszach, Manuela Bozzi, Maria Giulia Bigotti, Francesca Sciandra, Petr Valeryevich Konarev, Andrea Brancaccio, Alberto Cassetta
Dystroglycan (DG), composed of α and β subunits, belongs to the dystrophin-associated glycoprotein complex. α-DG is an extracellular matrix protein that undergoes a complex post-translational glycosylation process. The bifunctional glycosyltransferase like-acetylglucosaminyltransferase (LARGE) plays a crucial role in the maturation of α-DG, enabling its binding to laminin. We have already structurally analyzed the N-terminal region of murine α-DG (α-DG-Nt) and of a pathological single point mutant that may affect recognition of LARGE, although the structural features of the potential interaction between LARGE and DG remain elusive...
August 2017: FEBS Open Bio
https://www.readbyqxmd.com/read/28768281/%C3%AE-sarcoglycan-deficiency-reduces-atherosclerotic-plaque-development-in-apoe-null-mice
#12
Vignesh Murugesan, Eva Degerman, Ann-Kristin Holmen-Pålbrink, Pontus Duner, Anki Knutsson, Anna Hultgårdh-Nilsson, Uwe Rauch
BACKGROUND: Smooth muscle cells are important for atherosclerotic plaque stability. Their proper ability to communicate with the extracellular matrix is crucial for maintaining the correct tissue integrity. In this study, we have investigated the role of β-sarcoglycan within the matrix-binding dystrophin-glycoprotein complex in the development of atherosclerosis. RESULTS: Atherosclerotic plaque development was significantly reduced in ApoE-deficient mice lacking β-sarcoglycan, and their plaques contained an increase in differentiated smooth muscle cells...
July 29, 2017: Journal of Vascular Research
https://www.readbyqxmd.com/read/28765879/mass-spectrometric-identification-of-dystrophin-the-protein-product-of-the-duchenne-muscular-dystrophy%C3%A2-gene-in-distinct-muscle-surface-membranes
#13
Sandra Murphy, Kay Ohlendieck
Supramolecular membrane complexes of low abundance are difficult to study by routine bioanalytical techniques. The plasmalemmal complex consisting of sarcoglycans, dystroglycans, dystrobrevins and syntrophins, which is closely associated with the membrane cytoskeletal protein dystrophin, represents such a high‑molecular‑mass protein assembly in skeletal muscles. The almost complete loss of the dystrophin isoform Dp427‑M and concomitant reduction in the dystrophin‑associated glycoprotein complex is the underlying cause of the highly progressive neuromuscular disorder named Duchenne muscular dystrophy...
July 27, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28754591/camkii-inhibition-mitigates-ischemia-reperfusion-elicited-calpain-activation-and-the-damage-to-membrane-skeleton-proteins-in-isolated-rat-hearts
#14
Ling-Heng Kong, Xiao-Ming Gu, Feng Wu, Zhen-Xiao Jin, Jing-Jun Zhou
Ca(2+)/calmodulin-dependent protein kinase II (CaMKII) has been implicated in myocardial ischemia/reperfusion (IR) injury. The aim of this study was to determine the effect of CaMKII on the damage to membrane skeleton proteins, which is an important cause of IR injury. Isolated rat hearts were subjected to 45-min global ischemia/2-h reperfusion. Both KN-62 and KN-93 were used to inhibit CaMKII. Compared with controls, the hearts in the IR group exhibited remarkable myocardial injury area, LDH release, cell apoptosis and contractile dysfunction, along with an increase in the phosphorylation of CaMKII and its substrate phospholamban...
July 25, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28744553/brag2a-a-guanine-nucleotide-exchange-factor-for-arf6-is-a-component-of-the-dystrophin-associated-glycoprotein-complex-at-the-photoreceptor-terminal
#15
Hiroyuki Sakagami, Osamu Katsumata, Yoshinobu Hara, Toshikuni Sasaoka, Masahiro Fukaya
Purpose: Mutations in genes encoding the dystrophin-associated glycoprotein complex (DGC) can cause muscular dystrophy and disturb synaptic transmission in the photoreceptor ribbon synapse. However, the molecular composition and specific functions of the photoreceptor DGC remain unknown. Brefeldin A-resistant Arf-GEF 2 (BRAG2), also known as IQSEC1, is a guanine nucleotide exchange factor for ADP-ribosylation factor 6 (Arf6), a critical GTPase that regulates endosomal trafficking and actin cytoskeleton remodeling...
July 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28742140/short-16-mer-locked-nucleic-acid-splice-switching-oligonucleotides-restore-dystrophin-production-in-duchenne-muscular-dystrophy-myotubes
#16
Vanessa Borges Pires, Ricardo Simões, Kamel Mamchaoui, Célia Carvalho, Maria Carmo-Fonseca
Splice-switching antisense oligonucleotides (SSOs) offer great potential for RNA-targeting therapies, and two SSO drugs have been recently approved for treating Duchenne Muscular Dystrophy (DMD) and Spinal Muscular Atrophy (SMA). Despite promising results, new developments are still needed for more efficient chemistries and delivery systems. Locked nucleic acid (LNA) is a chemically modified nucleic acid that presents several attractive properties, such as high melting temperature when bound to RNA, potent biological activity, high stability and low toxicity in vivo...
2017: PloS One
https://www.readbyqxmd.com/read/28742067/long-term-microdystrophin-gene-therapy-is-effective-in-a-canine-model-of-duchenne-muscular-dystrophy
#17
Caroline Le Guiner, Laurent Servais, Marie Montus, Thibaut Larcher, Bodvaël Fraysse, Sophie Moullec, Marine Allais, Virginie François, Maeva Dutilleul, Alberto Malerba, Taeyoung Koo, Jean-Laurent Thibaut, Béatrice Matot, Marie Devaux, Johanne Le Duff, Jack-Yves Deschamps, Inès Barthelemy, Stéphane Blot, Isabelle Testault, Karim Wahbi, Stéphane Ederhy, Samia Martin, Philippe Veron, Christophe Georger, Takis Athanasopoulos, Carole Masurier, Federico Mingozzi, Pierre Carlier, Bernard Gjata, Jean-Yves Hogrel, Oumeya Adjali, Fulvio Mavilio, Thomas Voit, Philippe Moullier, George Dickson
Duchenne muscular dystrophy (DMD) is an incurable X-linked muscle-wasting disease caused by mutations in the dystrophin gene. Gene therapy using highly functional microdystrophin genes and recombinant adeno-associated virus (rAAV) vectors is an attractive strategy to treat DMD. Here we show that locoregional and systemic delivery of a rAAV2/8 vector expressing a canine microdystrophin (cMD1) is effective in restoring dystrophin expression and stabilizing clinical symptoms in studies performed on a total of 12 treated golden retriever muscular dystrophy (GRMD) dogs...
July 25, 2017: Nature Communications
https://www.readbyqxmd.com/read/28741800/eteplirsen-for-the-treatment-of-duchenne-muscular-dystrophy-quality-of-evidence-concerns-an-alternative-viewpoint
#18
Adriane N Irwin, Megan C Herink
We read the paper by Reinig AM and colleagues entitled "Advances in the Treatment of Duchenne Muscular Dystrophy: New and Emerging Pharmacotherapies" with great interest.(1) The authors discuss several novel therapies to increase production of dystrophin in myocytes, of which, eteplirsen (Exondys) is the only currently approved by the US Food & Drug Administration (FDA).(2) Pharmacologic management of Duchenne muscular dystrophy (DMD) centers on the use of glucocorticoids which works by decreasing inflammation and reducing immune system activity...
July 25, 2017: Pharmacotherapy
https://www.readbyqxmd.com/read/28740938/whole-body-vibration-exercise-is-well-tolerated-in-patients-with-duchenne-muscular-dystrophy-a-systematic-review
#19
REVIEW
Eloá Moreira-Marconi, Danubia C Sá-Caputo, Carla F Dionello, Eliane O Guedes-Aguiar, Cintia R Sousa-Gonçalves, Danielle S Morel, Laisa L Paineiras-Domingos, Patricia L Souza, Cristiane R Kütter, Rebeca G Costa-Cavalcanti, Glenda Costa, Patricia C Paiva, Claudia Figueiredo, Samuel Brandão-Sobrinho-Neto, Christina Stark, Marianne Unger, Mario Bernardo-Filho
BACKGROUND: Duchenne muscular dystrophy (DMD) is caused by a defective gene located on the X-chromosome, responsible for the production of the dystrophin protein. Complications in the musculoskeletal system have been previously described in DMD patients. Whole body vibration exercise (WBVE) is a treatment that improves musculoskeletal function in movement disorders. The aim of this study was to review the effects of WBVE on functional mobility, bone and muscle in DMD patients. MATERIALS AND METHODS: Four databases were searched...
2017: African Journal of Traditional, Complementary, and Alternative Medicines: AJTCAM
https://www.readbyqxmd.com/read/28734761/patients-with-duchenne-muscular-dystrophy-are-significantly-shorter-than-those-with-becker-muscular-dystrophy-with-the-higher-incidence-of-short-stature-in-dp71-mutated-subgroup
#20
Masaaki Matsumoto, Hiroyuki Awano, Tomoko Lee, Yasuhiro Takeshima, Masafumi Matsuo, Kazumoto Iijima
Duchenne and Becker muscular dystrophy (DMD/BMD) are caused by mutations in the dystrophin gene and are characterized by severe and mild progressive muscle wasting, respectively. Short stature has been reported as a feature of DMD in the Western hemisphere, but not yet confirmed in Orientals. Height of young BMD has not been fully characterized. Here, height of ambulant and steroid naive Japanese 179 DMD and 42 BMD patients between 4 and 10 years of age was retrospectively examined using height standard deviation score (SDS)...
June 19, 2017: Neuromuscular Disorders: NMD
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