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https://www.readbyqxmd.com/read/29447293/the-enzymatic-processing-of-%C3%AE-dystroglycan-by-mmp-2-is-controlled-by-two-anchoring-sites-distinct-from-the-active-site
#1
Magda Gioia, Giovanni Francesco Fasciglione, Diego Sbardella, Francesca Sciandra, MariaLuisa Casella, Serena Camerini, Marco Crescenzi, Alessandro Gori, Umberto Tarantino, Paola Cozza, Andrea Brancaccio, Massimo Coletta, Manuela Bozzi
Dystroglycan (DG) is a membrane receptor, belonging to the dystrophin-glycoprotein complex (DGC) and formed by two subunits, α-dystroglycan (α-DG) and β-dystroglycan (β -DG). The C-terminal domain of α-DG and the N-terminal extracellular domain of β -DG are connected, providing a link between the extracellular matrix and the cytosol. Under pathological conditions, such as cancer and muscular dystrophies, DG may be the target of metalloproteinases MMP-2 and MMP-9, contributing to disease progression. Previously, we reported that the C-terminal domain α-DG (483-628) domain is particularly susceptible to the catalytic activity of MMP-2; here we show that the α-DG 621-628 region is required to carry out its complete digestion, suggesting that this portion may represent a MMP-2 anchoring site...
2018: PloS One
https://www.readbyqxmd.com/read/29434771/adeno-associated-virus-serotype-9-mediated-vascular-endothelial-growth-factor-gene-overexpression-in-mdx-mice
#2
Xueqin Song, Ya Zhang, Zhigang Hou, Hongran Wu, Shan Lu, Jin Tang, Xuexiao Chen, Hongying Cui, Yuan Li, Yue Bi, Weisong Duan, Zhongyao Li, Chunyan Li
Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disease caused by the absence of dystrophin. Vascular endothelial growth factor (VEGF) is a heparin-binding dimeric glycoprotein and principal angiogenic factor stimulating the migration, proliferation and expression of various genes in endothelial cells. Recently, VEGF was demonstrated to exhibit an antiapoptotic and direct myogenic effect, as well as to enhance muscle force restoration subsequent to traumatic injury. Therefore, the present study attempted to assess the muscle damage of VEGF overexpression in mdx mice...
February 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29433343/cardiac-specific-expression-of-%C3%A2-h2-r15-mini-dystrophin-normalized-all-ecg-abnormalities-and-the-end-diastolic-volume-in-a-23-m-old-mouse-model-of-duchenne-dilated-cardiomyopathy
#3
Nalinda B Wasala, Jin-Hong Shin, Yi Lai, Yongping Yue, Federica Montanaro, Dongsheng Duan
Heart disease is a major health threat for Duchenne/Becker muscular dystrophy patients and carriers. Expression of a 6 to 8-kb mini-dystrophin gene in the heart holds promise to dramatically change the disease course. However the mini-dystrophin gene cannot be easily studied with adeno-associated virus (AAV) gene delivery because the size of the minigene exceeds AAV packaging capacity. We previously studied cardiac protection of the ∆H2-R19 minigene using the cardiac specific transgenic approach. Although this minigene fully normalized skeletal muscle force, it only partially corrected ECG and heart hemodynamics in dystrophin-null mdx mice that had moderate cardiomyopathy...
February 13, 2018: Human Gene Therapy
https://www.readbyqxmd.com/read/29419852/-clinical-features-of-patients-with-becker-muscular-dystrophy-and-deletions-of-the-rod-domain-of-dystrophin-gene
#4
Yanyun Wang, Yuling Zhu, Juan Yang, Yaqin Li, Jiangwen Sun, Yixin Zhan, Cheng Zhang
OBJECTIVE To explore the clinical features of patients carrying deletions of the rod domain of the dystrophin gene. METHODS Clinical data of 12 Chinese patients with Becker muscular dystrophy (BMD) and such deletions was reviewed. RESULTS Most patients complained of muscle weakness of lower limbs. Two patients had muscle cramps, one had increased creatine kinase (CK) level, and one had dilated cardiomyopathy. CONCLUSION Compared with DMD, the clinical features of BMD are much more variable, particularly for those carrying deletions of the rod domain of the dystrophin gene...
February 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29417745/effect-of-speed-endurance-training-and-reduced-training-volume-on-running-economy-and-single-muscle-fiber-adaptations-in-trained-runners
#5
Casper Skovgaard, Danny Christiansen, Peter M Christensen, Nicki W Almquist, Martin Thomassen, Jens Bangsbo
The aim of the present study was to examine whether improved running economy with a period of speed endurance training and reduced training volume could be related to adaptations in specific muscle fibers. Twenty trained male (n = 14) and female (n = 6) runners (maximum oxygen consumption (VO2 -max): 56.4 ± 4.6 mL/min/kg) completed a 40-day intervention with 10 sessions of speed endurance training (5-10 × 30-sec maximal running) and a reduced (36%) volume of training. Before and after the intervention, a muscle biopsy was obtained at rest, and an incremental running test to exhaustion was performed...
February 2018: Physiological Reports
https://www.readbyqxmd.com/read/29414414/generation-of-gzkhqi001-a-and-gzwwti001-a-two-induced-pluripotent-stem-cell-lines-derived-from-peripheral-blood-mononuclear-cells-of-duchenne-muscular-dystrophy-patients
#6
Xie Yuhuan, Xie Yingjun, Xue Yanting, Chen Yuchang, Song Bing, Li Shaoying, Li Haoxian, Xian Yexing, Ouyang Shuming, Xiong Zeyu, Sun Xiaofang
Duchenne muscular dystrophy (DMD) is an X-linked disease caused by mutations in the DMD gene, which spans ~2.4Mb of genomic sequence at locus Xp21. This mutation results in the loss of the protein dystrophin. DMD patients die in their second or third decade due to either respiratory failure or cardiomyopathy, as the absence of dystrophin leads to myofiber membrane fragility and necrosis, eventually resulting in muscle atrophy and contractures. Currently, there is no effective treatment for DMD, therefore induced pluripotent stem cells from DMD patients would be a powerful tool for studying disease mechanisms...
January 31, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29414413/generation-of-induced-pluripotent-stem-cells-from-a-becker-muscular-dystrophy-patient-carrying-a-deletion-of-exons-45-55-of-the-dystrophin-gene-ccmi002bmd-a-9-%C3%A2-45-55
#7
Aoife Gowran, Gabriella Spaltro, Federica Casalnuovo, Vera Vigorelli, Pietro Spinelli, Elisa Castiglioni, Davide Rovina, Stefania Paganini, Marina Di Segni, Cristina Gervasini, Patrizia Nigro, Giulio Pompilio
Becker muscular dystrophy (BMD) is a dystrophinopathy caused by mutations in the dystrophin gene on chromosome Xp21. BMD mutations result in truncated semi-functional dystrophin isoforms. Consequently, less severe clinical symptoms become apparent later in life compared to Duchenne muscular dystrophy. Dermal fibroblasts from a BMD patient were electroporated with episomal plasmids containing reprogramming factors to create the induced pluripotent stem cell line: CCMi002BMD-A-9 that showed pluripotent markers, were karyotypically normal and capable of trilineage differentiation...
February 1, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29412689/branched-fibers-from-old-fast-twitch-dystrophic-muscles-are-the-sites-of-terminal-damage-in-muscular-dystrophy
#8
Leonit Kiriaev, Sindy Kueh, John W Morley, Kathryn N North, Peter J Houweling, Stewart I Head
A striking pathological feature of dystrophinopathies is the presence of morphologically abnormal branched skeletal muscle fibers. The deterioration of muscle contractile function in Duchenne muscular dystrophy is accompanied by both an increase in number and complexity of these branched fibers. We propose that when number and complexity of branched fibers reaches a critical threshold, "tipping point" the branches in and of themselves are the site of contraction-induced rupture. In the present study, we use the dystrophic mdx mouse and littermate controls to study the pre-diseased dystrophic fast-twitch EDL muscle at 2-3-weeks, the peak myonecrotic phase at 6-9 weeks and finally "old" at 58-112 weeks...
February 7, 2018: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/29408692/proteomic-analysis-of-the-sarcolemma-enriched-fraction-from-dystrophic-mdx-4cv-skeletal-muscle
#9
Sandra Murphy, Margit Zweyer, Michael Henry, Paula Meleady, Rustam R Mundegar, Dieter Swandulla, Kay Ohlendieck
The highly progressive neuromuscular disorder dystrophinopathy is triggered by primary abnormalities in the Dmd gene, which causes cytoskeletal instability and loss of sarcolemmal integrity. Comparative organellar proteomics was employed to identify sarcolemma-associated proteins with an altered concentration in dystrophic muscle tissue from the mdx-4cv mouse model of dystrophinopathy. A lectin agglutination method was used to prepare a sarcolemma-enriched fraction and resulted in the identification of 190 significantly changed protein species...
February 1, 2018: Journal of Proteomics
https://www.readbyqxmd.com/read/29408646/utrophin-up-regulation-by-artificial-transcription-factors-induces-muscle-rescue-and-impacts-the-neuromuscular-junction-in-mdx-mice
#10
Cinzia Pisani, Georgios Strimpakos, Francesca Gabanella, Maria Grazia Di Certo, Annalisa Onori, Cinzia Severini, Siro Luvisetto, Stefano Farioli-Vecchioli, Irene Carrozzo, Antonio Esposito, Tamara Canu, Elisabetta Mattei, Nicoletta Corbi, Claudio Passananti
Up-regulation of the dystrophin-related gene utrophin represents a promising therapeutic strategy for the treatment of Duchenne Muscular Dystrophy (DMD). In order to re-program the utrophin expression level in muscle, we engineered artificial zinc finger transcription factors (ZF-ATFs) that target the utrophin "A" promoter. We have previously shown that the ZF-ATF "Jazz", either by transgenic manipulation or by systemic adeno-associated viral delivery, induces significant rescue of muscle function in dystrophic "mdx" mice...
January 30, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29404407/correction-of-diverse-muscular-dystrophy-mutations-in-human-engineered-heart-muscle-by-single-site-genome-editing
#11
Chengzu Long, Hui Li, Malte Tiburcy, Cristina Rodriguez-Caycedo, Viktoriia Kyrychenko, Huanyu Zhou, Yu Zhang, Yi-Li Min, John M Shelton, Pradeep P A Mammen, Norman Y Liaw, Wolfram-Hubertus Zimmermann, Rhonda Bassel-Duby, Jay W Schneider, Eric N Olson
Genome editing with CRISPR/Cas9 is a promising new approach for correcting or mitigating disease-causing mutations. Duchenne muscular dystrophy (DMD) is associated with lethal degeneration of cardiac and skeletal muscle caused by more than 3000 different mutations in the X-linked dystrophin gene ( DMD ). Most of these mutations are clustered in "hotspots." There is a fortuitous correspondence between the eukaryotic splice acceptor and splice donor sequences and the protospacer adjacent motif sequences that govern prokaryotic CRISPR/Cas9 target gene recognition and cleavage...
January 2018: Science Advances
https://www.readbyqxmd.com/read/29401588/the-role-of-amp-activated-protein-kinase-in-the-expression-of-the-dystrophin-associated-protein-complex-in-skeletal-muscle
#12
Athan G Dial, Paul Rooprai, James S Lally, Adam L Bujak, Gregory R Steinberg, Vladimir Ljubicic
Stimulation of AMPK induces the expression of dystrophin-associated protein complex (DAPC) components in skeletal muscle, whereas reductions in AMPK are associated with DAPC dysfunction. We sought to determine whether AMPK was necessary for the maintenance of DAPC expression in skeletal muscle. Fast, glycolytic extensor digitorum longus (EDL) and slow, oxidative soleus (SOL) muscles from wild-type mice and from littermates deficient in skeletal muscle AMPK (MKO) were analyzed. DAPC mRNA and protein expression were similar between genotypes, with the exception of elevated neuronal nitric oxide synthase expression at the sarcolemma in MKO muscles...
January 11, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29399383/epigenetic-regulators-modulate-muscle-damage-in-duchenne-muscular-dystrophy-model
#13
Fernanda Bajanca, Laurence Vandel
Histone acetyl transferases (HATs) and histone deacetylases (HDAC) control transcription during myogenesis. HDACs promote chromatin condensation, inhibiting gene transcription in muscle progenitor cells until myoblast differentiation is triggered and HDACs are released. HATs, namely CBP/p300, activate myogenic regulatory and elongation factors promoting myogenesis. HDAC inhibitors are known to improve regeneration in dystrophic muscles through follistatin upregulation. However, the potential of directly modulating HATs remains unexplored...
December 21, 2017: PLoS Currents
https://www.readbyqxmd.com/read/29395317/dystrophin-71-and-%C3%AE-1syntrophin-in-morpho-functional-plasticity-of-rat-supraoptic-nuclei-effect-of-saline-surcharge-and-reversibly-normal-hydration
#14
Madina Sifi, Roza Benabdesselam, Sabrina Souttou, Tiziana Annese, Alvaro Rendon, Beatrice Nico, Latifa Dorbani-Mamine
Dystrophin (Dp) is a multidomain protein that links the actin cytoskeleton to the extracellular matrix through the dystrophin associated proteins complex (DAPC). Dp of 71 kDa (Dp71), corresponding to the COOH-terminal domain of dystrophin, and α1-syntrophin (α1Syn) as the principal component of the DAPC, are strongly expressed in the brain. To clarify their involvement in the central control of osmotic homeostasis, we investigated the effect of 14 days of salt loading (with drinking water containing 2% NaCl) and then reversibly to 30 days of normal hydration (with drinking water without salt), first on the expression by western-blotting and the distribution by immunochemistry of Dp71 and α1Syn in the SON of the rat and, second, on the level of some physiological parameters, as the plasma osmolality, natremia and hematocrit...
January 26, 2018: Acta Histochemica
https://www.readbyqxmd.com/read/29386334/duchenne-muscular-dystrophy-genome-editing-gives-new-hope-for-treatment
#15
REVIEW
Vassili Crispi, Antonios Matsakas
Duchenne muscular dystrophy (DMD) is a progressive wasting disease of skeletal and cardiac muscles, representing one of the most common recessive fatal inherited genetic diseases with 1:3500-1:5000 in yearly incidence. It is caused by mutations in the DMD gene that encodes the membrane-associated dystrophin protein. Over the years, many have been the approaches to management of DMD, but despite all efforts, no effective treatment has yet been discovered. Hope for the development of potential therapeutics has followed the recent advances in genome editing and gene therapy...
January 31, 2018: Postgraduate Medical Journal
https://www.readbyqxmd.com/read/29384432/dysphagia-and-esophageal-dysfunction-due-to-dystrophin-deficient-muscular-dystrophy-in-a-male-spanish-water-spaniel
#16
Brigitte B McAtee, Johanna C Heseltine, Ling T Guo, Michael D Willard, G Diane Shelton
No abstract text is available yet for this article.
January 31, 2018: Veterinary Quarterly
https://www.readbyqxmd.com/read/29379140/operation-of-a-p300-based-brain-computer-interface-in-patients-with-duchenne-muscular-dystrophy
#17
Kota Utsumi, Kouji Takano, Yoji Okahara, Tetsuo Komori, Osamu Onodera, Kenji Kansaku
A brain-computer interface (BCI) or brain-machine interface is a technology that enables the control of a computer and other external devices using signals from the brain. This technology has been tested in paralysed patients, such as those with cervical spinal cord injuries or amyotrophic lateral sclerosis, but it has not been tested systematically in Duchenne muscular dystrophy (DMD), which is a severe type of muscular dystrophy due to the loss of dystrophin and is often accompanied by progressive muscle weakness and wasting...
January 29, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29377139/late-onset-becker-type-muscular-dystrophy-in-a-border-terrier-dog
#18
A Jeandel, L S Garosi, L Davies, L T Guo, R Salgüero, G D Shelton
A 9-year-old Border terrier was presented to a referral hospital after a 1-year history of progressive stiffness and exercise intolerance. Neurological examination was consistent with a neuromuscular disorder. Serum creatine kinase activity was mildly elevated. A myopathy was suspected based on MRI findings and electrophysiological examination. Muscle histopathology was consistent with a severe non-inflammatory myopathy of a dystrophic type. Immunofluorescence and western blotting confirmed a dystrophinopathy with an 80-kDa truncated dystrophin fragment similar to Becker muscular dystrophy in people...
January 29, 2018: Journal of Small Animal Practice
https://www.readbyqxmd.com/read/29373175/a-novel-point-mutation-affecting-asn76-of-dystrophin-protein-leads-to-dystrophinopathy
#19
Katalin Koczok, Gabriella Merő, Gabriella P Szabó, László Madar, Éva Gombos, Éva Ajzner, János András Mótyán, Tibor Hortobágyi, István Balogh
Mutations in the DMD gene lead to Duchenne and Becker muscular dystrophy (DMD/BMD). Missense mutations are rare cause of DMD/BMD. A six-month-old male patient presented with mild generalized muscle weakness, hypotonia, and delayed motor development. Dystrophinopathy was suspected because of highly elevated serum creatine kinase level (1497 U/L) and tiered DMD gene analysis was performed. Multiplex ligation-dependent probe amplification (MLPA) assay showed deletion of exon 4, which could not be confirmed by another method...
December 7, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29367543/dystrophic-cardiomyopathy-complex-pathobiological-processes-to-generate-clinical-phenotype
#20
REVIEW
Takeshi Tsuda, Kristi K Fitzgerald
Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and X-linked dilated cardiomyopathy (XL-DCM) consist of a unique clinical entity, the dystrophinopathies, which are due to variable mutations in the dystrophin gene. Dilated cardiomyopathy (DCM) is a common complication of dystrophinopathies, but the onset, progression, and severity of heart disease differ among these subgroups. Extensive molecular genetic studies have been conducted to assess genotype-phenotype correlation in DMD, BMD, and XL-DCM to understand the underlying mechanisms of these diseases, but the results are not always conclusive, suggesting the involvement of complex multi-layers of pathological processes that generate the final clinical phenotype...
September 8, 2017: Journal of Cardiovascular Development and Disease
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