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https://www.readbyqxmd.com/read/28728956/ataluren-in-patients-with-nonsense-mutation-duchenne-muscular-dystrophy-act-dmd-a-multicentre-randomised-double-blind-placebo-controlled-phase-3-trial
#1
Craig M McDonald, Craig Campbell, Ricardo Erazo Torricelli, Richard S Finkel, Kevin M Flanigan, Nathalie Goemans, Peter Heydemann, Anna Kaminska, Janbernd Kirschner, Francesco Muntoni, Andrés Nascimento Osorio, Ulrike Schara, Thomas Sejersen, Perry B Shieh, H Lee Sweeney, Haluk Topaloglu, Már Tulinius, Juan J Vilchez, Thomas Voit, Brenda Wong, Gary Elfring, Hans Kroger, Xiaohui Luo, Joseph McIntosh, Tuyen Ong, Peter Riebling, Marcio Souza, Robert J Spiegel, Stuart W Peltz, Eugenio Mercuri
BACKGROUND: Duchenne muscular dystrophy (DMD) is a severe, progressive, and rare neuromuscular, X-linked recessive disease. Dystrophin deficiency is the underlying cause of disease; therefore, mutation-specific therapies aimed at restoring dystrophin protein production are being explored. We aimed to assess the efficacy and safety of ataluren in ambulatory boys with nonsense mutation DMD. METHODS: We did this multicentre, randomised, double-blind, placebo-controlled, phase 3 trial at 54 sites in 18 countries located in North America, Europe, the Asia-Pacific region, and Latin America...
July 17, 2017: Lancet
https://www.readbyqxmd.com/read/28727929/na-h-exchanger-and-proton-channel-in-heart-failure-associated-with-becker-and-duchenne-muscular-dystrophy
#2
Ghassan Bkaily, Danielle Jacques
Cardiomyopathy is found in patients with Duchenne (DMD) and Becker (BMD) muscular dystrophies which are linked muscle diseases caused by mutations in the dystrophin gene. Dystrophin defects are not limited to DMD but are also present in mild BMD. The hereditary cardiomyopathic hamster of the UM-X7.1 strain is a particular experimental model of heart failure (HF) leading to early death in muscular dystrophy (dystrophin deficiency and sarcoglycan mutation) and heart disease (δ-sarcoglycan deficiency and dystrophin mutation) in human DMD...
July 20, 2017: Canadian Journal of Physiology and Pharmacology
https://www.readbyqxmd.com/read/28697334/heart-regeneration-4-0-matrix-medicine
#3
Elif Eroglu, Kenneth R Chien
The heart has a markedly limited capacity for regeneration. Reporting in Nature, Bassat et al. (2017) and Morikawa et al. (2017) have uncovered a new mechanism of Yap inhibition by the dystrophin glycoprotein complex (DGC) that is released by the extracellular matrix protein Agrin in order to promote cardiac regeneration.
July 10, 2017: Developmental Cell
https://www.readbyqxmd.com/read/28680110/deletions-not-duplications-or-small-mutations-are-the-predominante-new-mutations-in-the-dystrophin-gene
#4
Janusz G Zimowski, Magdalena Pawelec, Joanna K Purzycka, Walentyna Szirkowiec, Jacek Zaremba
Examination of the carrier state was performed in 744 unrelated mothers of the Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) probands with identified mutations in the dystrophin gene. Owing to that it was possible to assess frequency and type of new mutations in the gene. Contrary to the Japanese observations of Lee et al. published in this journal, we did not find significant differences in the carrier frequency between mothers of DMD and BMD patients. However, we found that new mutations in patients with deletions were significantly more frequent than in those with duplications and small mutations: of 564 unrelated patients with deletions, 236 (41...
July 6, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28669717/mirnas-may-regulate-gabaergic-transmission-associated-genes-in-aged-rats-with-anesthetics-induced-recognition-and-working-memory-dysfunction
#5
Ligang Shan, Duo Ma, Chengshen Zhang, Wei Xiong, Yi Zhang
BACKGROUND: Isoflurane and sevoflurane are widely used anesthetics in surgery and administration of these anesthetics could lead to postoperative cognitive dysfunction (POCD). However, the mechanisms remain unclear. METHODS: Aged Wistar rats were exposed to isoflurane and sevoflurane for 2 or 4 hours. Recognition memory and spatial working memory were measured using Novel object recognition (NOR) and Y-maze test, respectively. Apoptotic cells were detected by TUNEL staining...
June 29, 2017: Brain Research
https://www.readbyqxmd.com/read/28665499/restoration-of-pharyngeal-dilator-muscle-force-in-dystrophin-deficient-mdx-mice-following-co-treatment-with-neutralising-il-6-receptor-antibodies-and-urocortin-2
#6
David P Burns, Jane Rowland, Leonie Canavan, Kevin H Murphy, Molly Brannock, Dervla O'Malley, Ken D O'Halloran, Deirdre Edge
The mdx mouse model of Duchenne muscular dystrophy (DMD) shows evidence of impaired pharyngeal dilator muscle function. We hypothesised that inflammatory and stress-related factors are implicated in airway dilator muscle dysfunction. Six week old mdx (n = 26) and wild-type (WT; n = 26) mice received either saline (0.9% w v(-1) ) or a co-administration of neutralising IL-6 receptor antibodies (xIL-6R; 0.2 mg kg(-1) ) and corticotrophin releasing factor receptor 2 agonist (Urocortin 2; 30 μg kg(-1) ) over 2 weeks...
June 30, 2017: Experimental Physiology
https://www.readbyqxmd.com/read/28661408/a-note-from-the-editor-duchenne-muscular-dystrophy-genetics-the-fda-and-drug-pricing
#7
Mark Terry
DMD is a muscle-wasting disease. It is caused by mutations in the dystrophin gene which is found on the X chromosome. It has an X-linked recessive inheritance pattern and is passed on by the mother (carrier). It is a progressive disease that usually causes death in early adulthood-often in the 20s, although there have been improvements in treatment, so some patients make it into their 30s and occasionally 40s. In addition to the muscle wasting aspects, serious complications include heart or respiratory-related problems...
2017: Journal of the Association of Genetic Technologists
https://www.readbyqxmd.com/read/28653137/duchenne-muscular-dystrophy-a-practice-update
#8
Renu Suthar, Naveen Sankhyan
Duchenne Muscular Dystrophy (DMD) is an X-linked recessive disorder caused by a deficient or defective synthesis of dystrophin protein. DMD is the most common form of muscular dystrophy with an incidence of about 1 in 5000 live boys. Though primarily resulting in progressive muscle weakness, it affects various other organs as well. Heart, brain and smooth muscles are commonly involved, because of expression of dystrophin in these organs. The management of DMD requires a multidisciplinary liaison, anticipatory management and prevention of the complications...
June 27, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28643790/corrigendum-muscle-specific-crispr-cas9-dystrophin-gene-editing-ameliorates-pathophysiology-in-a-mouse-model-for-duchenne-muscular-dystrophy
#9
Niclas E Bengtsson, John K Hall, Guy L Odom, Michael P Phelps, Colin R Andrus, R David Hawkins, Stephen D Hauschka, Joel R Chamberlain, Jeffrey S Chamberlain
This corrects the article DOI: 10.1038/ncomms14454.
June 23, 2017: Nature Communications
https://www.readbyqxmd.com/read/28643105/differential-role-of-gabaa-receptors-and-neuroligin-2-for-perisomatic-gabaergic-synapse-formation-in-the-hippocampus
#10
Patrizia Panzanelli, Simon Früh, Jean-Marc Fritschy
Perisomatic GABAergic synapses onto hippocampal pyramidal cells arise from two populations of basket cells with different neurochemical and functional properties. The presence of the dystrophin-glycoprotein complex in their postsynaptic density (PSD) distinguishes perisomatic synapses from GABAergic synapses on dendrites and the axon-initial segment. Targeted deletion of neuroligin 2 (NL2), a transmembrane protein interacting with presynaptic neurexin, has been reported to disrupt postsynaptic clustering of GABAA receptors (GABAAR) and their anchoring protein, gephyrin, at perisomatic synapses...
June 22, 2017: Brain Structure & Function
https://www.readbyqxmd.com/read/28639151/central-arterial-function-measured-by-non-invasive-pulse-wave-analysis-is-abnormal-in-patients-with-duchenne-muscular-dystrophy
#11
Thomas D Ryan, John J Parent, Zhiqian Gao, Philip R Khoury, Elizabeth Dupont, Jennifer N Smith, Brenda Wong, Elaine M Urbina, John L Jefferies
Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused by mutation of dystrophin. Cardiovascular involvement includes dilated cardiomyopathy. Non-invasive assessment of vascular function has not been evaluated in DMD. We hypothesize arterial wave reflection is abnormal in patients with DMD. Pulse wave analysis was performed on DMD patients with a SphygmoCor SCOR-PVx System to determine central blood pressure and augmentation index (AIx) as an assessment of arterial wave reflection. Results were compared to a control group...
June 21, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28638919/-analyses-of-exercise-induced-muscle-damage-specific-microrna-expression-and-molecular-target-of-sarcolemmal-damage-in-rats
#12
Yu-Ming Xu, Jian-Min Cao, Jun-Ping Li, Qiao-Ting Huang, Ping Wang
In the present study, we were to screen the specific microRNA (miRNA) of exercise-induced muscle damage (EIMD) and assess the EIMD-specific miRNAs-regulated target of sarcolemmal damage in rats. Twenty-four male Sprague-Dawley (SD) rats were randomly divided into 3 groups, which included sedentary (C), 24 h post-exercise (E24) and 48 h post-exercise (E48) groups. Rat EIMD model was established by an acute eccentric exercise, i.e., a downhill running treatment at -16º gradient. EIMD characteristics were verified by Evans blue dye staining, differentially expressed miRNAs were detected by microarray assay, EIMD-specific miRNAs expressions were further validated by real-time quantitative RT-PCR (RT-qPCR), and targets of the miRNAs were predicted based on mRNA expressions of associated proteins and related pathway core molecules of sarcolemmal damage...
June 25, 2017: Sheng Li Xue Bao: [Acta Physiologica Sinica]
https://www.readbyqxmd.com/read/28633548/polyquaternium-mediated-delivery-of-morpholino-oligonucleotides-for-exon-skipping-in-vitro-and-in-mdx-mice
#13
Mingxing Wang, Bo Wu, Sapana N Shah, Peijuan Lu, Qilong Lu
Antisense oligonucleotide therapy for Duchenne muscular dystrophy has shown great potential in preclinical and clinical trials, but its therapeutic applications are still limited due to inefficient delivery. In this study, we investigated a few polyquaterniums (PQs) with different size and composition for their potential to improve delivery performance of an antisense phosphorodiamidate morpholino oligomer (PMO) both in vitro and in vivo. The results showed that Luviquat(TM) series, especially PQ-1 and PQ-3, promoted the exon-skipping efficiency comparable to Endoporter-mediated PMO delivery in vitro...
November 2017: Drug Delivery
https://www.readbyqxmd.com/read/28632504/what-is-new-in-gastrointestinal-stromal-tumor
#14
Inga-Marie Schaefer, Adrián Mariño-Enríquez, Jonathan A Fletcher
The classification "gastrointestinal stromal tumor" (GIST) became commonplace in the 1990s and since that time various advances have characterized the GIST lineage of origin, tyrosine kinase mutations, and mechanisms of response and resistance to targeted therapies. In addition to tyrosine kinase mutations and their constitutive activation of downstream signaling pathways, GISTs acquire a sequence of chromosomal aberrations. These include deletions of chromosomes 14q, 22q, 1p, and 15q, which harbor putative tumor suppressor genes required for stepwise progression from microscopic, preclinical forms of GIST (microGIST) to clinically relevant tumors with malignant potential...
June 19, 2017: Advances in Anatomic Pathology
https://www.readbyqxmd.com/read/28631898/mass-spectrometry-based-protein-analytics-to-unravel-the-tissue-pathophysiology-in-duchenne-muscular-dystrophy
#15
Stephanie J Carr, René P Zahedi, Hanns Lochmüller, Andreas Roos
Duchenne muscular dystrophy (DMD) is a genetic muscle wasting condition with limited treatment options available and is caused by the lack of Dystrophin. However, pathophysiology of different tissues is variable showing different histological and molecular signatures. Recently, a number of studies have employed gel-free proteomic approaches to unveil the molecular pathophysiology in terms of tissue-specific proteome changes in dystrophin-deficiency. We analysed studies in models of dystrophin-deficiency and patients both from the published literature...
June 20, 2017: Proteomics. Clinical Applications
https://www.readbyqxmd.com/read/28627088/astrogliosis-and-impaired-aquaporin-4-and-dystrophin-systems-in-idiopathic-normal-pressure-hydrocephalus
#16
Per Kristian Eide, Hans-Arne Hansson
AIMS: Idiopathic normal pressure hydrocephalus (iNPH) is one subtype of dementia that may improve following drainage of cerebrospinal fluid (CSF). This prospective observational study explored whether expression of the water channel aquaporin-4 (AQP4) and the anchoring molecule dystrophin 71 (Dp71) are altered at astrocytic perivascular endfeet and in adjacent neuropil of iNPH patient. Observations were related to measurements of pulsatile and static intracranial pressure (ICP). METHODS: The study included iNPH patients undergoing overnight monitoring of the pulsatile/static ICP, in whom a biopsy was taken from the frontal cerebral cortex during placement of the ICP sensor...
June 19, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28624206/crispr-cas9-mediated-genome-editing-corrects-dystrophin-mutation-in-skeletal-muscle-stem-cells-in-a-mouse-model-of-muscle-dystrophy
#17
Pei Zhu, Furen Wu, Jeffrey Mosenson, Hongmei Zhang, Tong-Chuan He, Wen-Shu Wu
Muscle stem cells (MuSCs) hold great therapeutic potential for muscle genetic disorders, such as Duchenne muscular dystrophy (DMD). The CRISP/Cas9-based genome editing is a promising technology for correcting genetic alterations in mutant genes. In this study, we used fibrin-gel culture system to selectively expand MuSCs from crude skeletal muscle cells of mdx mice, a mouse model of DMD. By CRISP/Cas9-based genome editing, we corrected the dystrophin mutation in expanded MuSCs and restored the skeletal muscle dystrophin expression upon transplantation in mdx mice...
June 16, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28624187/correction-of-the-exon-2-duplication-in-dmd-myoblasts-by-a-single-crispr-cas9-system
#18
Annalisa Lattanzi, Stephanie Duguez, Arianna Moiani, Araksya Izmiryan, Elena Barbon, Samia Martin, Kamel Mamchaoui, Vincent Mouly, Francesco Bernardi, Fulvio Mavilio, Matteo Bovolenta
Exonic duplications account for 10%-15% of all mutations in Duchenne muscular dystrophy (DMD), a severe hereditary neuromuscular disorder. We report a CRISPR (clustered regularly interspaced short palindromic repeat)/Cas9-based strategy to correct the most frequent (exon 2) duplication in the DMD gene by targeted deletion, and tested the efficacy of such an approach in patient-derived myogenic cells. We demonstrate restoration of wild-type dystrophin expression at transcriptional and protein level in myotubes derived from genome-edited myoblasts in the absence of selection...
June 16, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28623422/effects-of-omega-3-on-matrix-metalloproteinase-9-myoblast-transplantation-and-satellite-cell-activation-in-dystrophin-deficient-muscle-fibers
#19
Samara Camaçari de Carvalho, Sajedah M Hindi, Ashok Kumar, Maria Julia Marques
In Duchenne muscular dystrophy (DMD), lack of dystrophin leads to progressive muscle degeneration, with DMD patients suffering from cardiorespiratory failure. Cell therapy is an alternative to life-long corticoid therapy. Satellite cells, the stem cells of skeletal muscles, do not completely compensate for the muscle damage in dystrophic muscles. Elevated levels of proinflammatory and profibrotic factors, such as metalloproteinase 9 (MMP-9), impair muscle regeneration, leading to extensive fibrosis and poor results with myoblast transplantation therapies...
June 17, 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28623080/increased-constitutive-nitric-oxide-production-by-whole-body-periodic-acceleration-ameliorates-alterations-in-cardiomyocytes-associated-with-utrophin-dystrophin-deficiency
#20
Jose R Lopez, Juan Kolster, Rui Zhang, Jose Adams
Duchenne Muscular Dystrophy (DMD) cardiomyopathy is a progressive lethal disease caused by the lack of the dystrophin protein in the heart. The most widely used animal model of DMD is the dystrophin-deficient mdx mouse; however, these mice exhibit a mild dystrophic phenotype with heart failure only late in life. In contrast, mice deficient for both dystrophin and utrophin (mdx/utrn(-/-), or dKO) can be used to model severe DMD cardiomyopathy where pathophysiological indicators of heart failure are detectable by 8-10weeks of age...
June 13, 2017: Journal of Molecular and Cellular Cardiology
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