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https://www.readbyqxmd.com/read/28526070/the-golden-retriever-model-of-duchenne-muscular-dystrophy
#1
REVIEW
Joe N Kornegay
Duchenne muscular dystrophy (DMD) is an X-linked disease caused by mutations in the DMD gene and loss of the protein dystrophin. The absence of dystrophin leads to myofiber membrane fragility and necrosis, with eventual muscle atrophy and contractures. Affected boys typically die in their second or third decade due to either respiratory failure or cardiomyopathy. Despite extensive attempts to develop definitive therapies for DMD, the standard of care remains prednisone, which has only palliative benefits. Animal models, mainly the mdx mouse and golden retriever muscular dystrophy (GRMD) dog, have played a key role in studies of DMD pathogenesis and treatment development...
May 19, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/28511858/reduced-myocardial-reserve-in-young-x-linked-muscular-dystrophy-mice-diagnosed-by-two-dimensional-strain-analysis-combined-with%C3%A2-stress-echocardiography
#2
Zhenzhou Li, Ying Li, Li Zhang, Xiaoying Zhang, Rebecca Sullivan, Xiaojie Ai, Christopher Szeto, Angela Cai, Longjian Liu, Weidong Xiao, Quanshui Li, Shuping Ge, Xiongwen Chen
BACKGROUND: Early, sensitive, and reproducible evaluation of left ventricular function is imperative for the diagnosis of cardiac dysfunction in patients with Duchene muscular dystrophy. The aim of this study was to test the hypothesis that combining two-dimensional strain analysis with catecholamine stress could be a sensitive method for detecting early cardiac dysfunction. METHODS: Mdx (C57BL/10ScSn-Dmdmdx/J, a mouse model of DMD) and control (C57BL/10ScSn) mice were studied with conventional M-mode and high-frequency ultrasound-based two-dimensional speckle-tracking echocardiography using long- and short-axis images of the left ventricle at baseline and after intraperitoneal isoprenaline (ISO) administration (2 μg/g body weight)...
May 13, 2017: Journal of the American Society of Echocardiography
https://www.readbyqxmd.com/read/28498977/consequences-of-megf10-deficiency-on-myoblast-function-and-notch1-interactions
#3
Madhurima Saha, Satomi Mitsuhashi, Michael D Jones, Kelsey Manko, Hemakumar M Reddy, Christine Bruels, Kyung-Ah Cho, Christina A Pacak, Isabelle Draper, Peter B Kang
Mutations in MEGF10 cause early onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD), a rare congenital muscle disease, but the pathogenic mechanisms remain largely unknown. We demonstrate that short hairpin RNA (shRNA)-mediated knockdown of Megf10, as well as overexpression of the pathogenic human p.C774R mutation, leads to impaired proliferation and migration of C2C12 cells. Myoblasts from Megf10-/- mice and Megf10-/-/mdx double knockout (dko) mice also show impaired proliferation and migration compared to myoblasts from wild type and mdx mice, whereas the dko mice show histological abnormalities that are not observed in either single mutant mouse...
May 11, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28481224/intermittent-glucocorticoid-steroid-dosing-enhances-muscle-repair-without-eliciting-muscle-atrophy
#4
Mattia Quattrocelli, David Y Barefield, James L Warner, Andy H Vo, Michele Hadhazy, Judy U Earley, Alexis R Demonbreun, Elizabeth M McNally
Glucocorticoid steroids such as prednisone are prescribed for chronic muscle conditions such as Duchenne muscular dystrophy, where their use is associated with prolonged ambulation. The positive effects of chronic steroid treatment in muscular dystrophy are paradoxical because these steroids are also known to trigger muscle atrophy. Chronic steroid use usually involves once-daily dosing, although weekly dosing in children has been suggested for its reduced side effects on behavior. In this work, we tested steroid dosing in mice and found that a single pulse of glucocorticoid steroids improved sarcolemmal repair through increased expression of annexins A1 and A6, which mediate myofiber repair...
May 8, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28469083/microrna-29-overexpression-by-adeno-associated-virus-suppresses-fibrosis-and-restores-muscle-function-in-combination-with-micro-dystrophin
#5
Kristin N Heller, Joshua T Mendell, Jerry R Mendell, Louise R Rodino-Klapac
Duchenne muscular dystrophy (DMD) is caused by dystrophin deficiency resulting in progressive muscle weakness and fibrotic scarring. Muscle fibrosis impairs blood flow, hampering muscle repair and regeneration. Irrespective of the success of gene restoration, functional improvement is limited without reducing fibrosis. The levels of miR-29c, a known regulator of collagen, are reduced in DMD. Our goal is to develop translational, antifibrotic therapy by overexpressing miR-29c. We injected the gastrocnemius muscle with either self-complementary AAV...
May 4, 2017: JCI Insight
https://www.readbyqxmd.com/read/28446779/functional-neuronal-differentiation-of-injury-induced-muscle-derived-stem-cell-like-cells-with-therapeutic-implications
#6
Kinga Vojnits, Haiying Pan, Xiaojing Dai, Hao Sun, Qingchun Tong, Radbod Darabi, Johnny Huard, Yong Li
Mammalian skeletal muscles contain a number of heterogeneous cell populations. Our previous study characterized a unique population of myogenic lineage stem cells that can be isolated from adult mammalian skeletal muscles upon injury. These injury-induced muscle-derived stem cell-like cells (iMuSCs) displayed a multipotent state with sensitiveness and strong migration abilities. Here, we report that these iMuSCs have the capability to form neurospheres that represent multiple neural phenotypes. The induced neuronal cells expressed various neuron-specific proteins, their mRNA expression during neuronal differentiation recapitulated embryonic neurogenesis, they generated action potentials, and they formed functional synapses in vitro...
April 26, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28418733/feasibility-of-spect-ct-imaging-to-study-the-pharmacokinetics-of-antisense-oligonucleotides-in-a-mouse-model-of-duchenne-muscular-dystrophy
#7
Evita van de Steeg, Tilman Läppchen, Begoña Aguilera, Harm T Jansen, Daan Muilwijk, Rick Vermue, José W van der Hoorn, Katia Donato, Raffaella Rossin, Peter C de Visser, Maria L H Vlaming
Antisense oligonucleotides (AONs) are promising candidates for treatment of Duchenne muscular dystrophy (DMD), a severe and progressive disease resulting in premature death. However, more knowledge on the pharmacokinetics of new AON drug candidates is desired for effective application in the clinic. We assessed the feasibility of using noninvasive single-photon emission computed tomography-computed tomography (SPECT-CT) imaging to determine AON pharmacokinetics in vivo. To this end, a 2'-O-methyl phosphorothioate AON was radiolabeled with (123)I or (111)In, and administered to mdx mice, a rodent model of DMD...
April 18, 2017: Nucleic Acid Therapeutics
https://www.readbyqxmd.com/read/28391962/su9516-increases-%C3%AE-7%C3%AE-1-integrin-and-ameliorates-disease-progression-in-the-mdx-mouse-model-of-duchenne-muscular-dystrophy
#8
Apurva Sarathy, Ryan D Wuebbles, Tatiana M Fontelonga, Ashley R Tarchione, Lesley A Mathews Griner, Dante J Heredia, Andreia M Nunes, Suzann Duan, Paul D Brewer, Tyler Van Ry, Grant W Hennig, Thomas W Gould, Andrés E Dulcey, Amy Wang, Xin Xu, Catherine Z Chen, Xin Hu, Wei Zheng, Noel Southall, Marc Ferrer, Juan Marugan, Dean J Burkin
Duchenne muscular dystrophy (DMD) is a fatal muscle disease caused by mutations in the dystrophin gene, resulting in a complete loss of the dystrophin protein. Dystrophin is a critical component of the dystrophin glycoprotein complex (DGC), which links laminin in the extracellular matrix to the actin cytoskeleton within myofibers and provides resistance to shear stresses during muscle activity. Loss of dystrophin in DMD patients results in a fragile sarcolemma prone to contraction-induced muscle damage. The α7β1 integrin is a laminin receptor protein complex in skeletal and cardiac muscle and a major modifier of disease progression in DMD...
April 5, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28390761/the-aav-mediated-and-rna-guided-crispr-cas9-system-for-gene-therapy-of-dmd-and-bmd
#9
REVIEW
Jing-Zhang Wang, Peng Wu, Zhi-Min Shi, Yan-Li Xu, Zhi-Jun Liu
Mutations in the dystrophin gene (Dmd) result in Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), which afflict many newborn boys. In 2016, Brain and Development published several interesting articles on DMD treatment with antisense oligonucleotide, kinase inhibitor, and prednisolone. Even more strikingly, three articles in the issue 6271 of Science in 2016 provide new insights into gene therapy of DMD and BMD via the clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9)...
April 5, 2017: Brain & Development
https://www.readbyqxmd.com/read/28339469/non-invasive-evaluation-of-muscle-disease-in-the-canine-model-of-duchenne-muscular-dystrophy-by-electrical-impedance-myography
#10
Chady H Hakim, Alex Mijailovic, Thais B Lessa, Joan R Coates, Carmen Shin, Seward B Rutkove, Dongsheng Duan
Dystrophin-deficient dogs are by far the best available large animal models for Duchenne muscular dystrophy (DMD), the most common lethal childhood muscle degenerative disease. The use of the canine DMD model in basic disease mechanism research and translational studies will be greatly enhanced with the development of reliable outcome measures. Electrical impedance myography (EIM) is a non-invasive painless procedure that provides quantitative data relating to muscle composition and histology. EIM has been extensively used in neuromuscular disease research in both human patients and rodent models...
2017: PloS One
https://www.readbyqxmd.com/read/28325301/increased-expression-of-laminin-subunit-alpha-1-chain-by-dcas9-vp160
#11
Arnaud Perrin, Joël Rousseau, Jacques P Tremblay
Laminin-111 protein complex links the extracellular matrix to integrin α7β1 in sarcolemma, thus replacing in dystrophic muscles links normally insured by the dystrophin complex. Laminin-111 injection in mdx mouse stabilized sarcolemma, restored serum creatine kinase to wild-type levels, and protected muscles from exercised-induced damages. These results suggested that increased laminin-111 is a potential therapy for DMD. Laminin subunit beta 1 and laminin subunit gamma 1 are expressed in adult human muscle, but laminin subunit alpha 1 (LAMA1) gene is expressed only during embryogenesis...
March 17, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28325281/systemic-antisense-therapeutics-for-dystrophin-and-myostatin-exon-splice-modulation-improve-muscle-pathology-of-adult-mdx-mice
#12
Ngoc Lu-Nguyen, Alberto Malerba, Linda Popplewell, Fred Schnell, Gunnar Hanson, George Dickson
Antisense-mediated exon skipping is a promising approach for the treatment of Duchenne muscular dystrophy (DMD), a rare life-threatening genetic disease due to dystrophin deficiency. Such an approach can restore the disrupted reading frame of dystrophin pre-mRNA, generating a truncated form of the protein. Alternatively, antisense therapy can be used to induce destructive exon skipping of myostatin pre-mRNA, knocking down myostatin expression to enhance muscle strength and reduce fibrosis. We have reported previously that intramuscular or intraperitoneal antisense administration inducing dual exon skipping of dystrophin and myostatin pre-mRNAs was beneficial in mdx mice, a mouse model of DMD, although therapeutic effects were muscle type restricted, possibly due to the delivery routes used...
March 17, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28247611/-research-progress-on-disease-models-and-gene-therapy-of-duchenne-muscular-dystrophy
#13
Tongyu Li, Ping Liang
Duchenne muscular dystrophy (DMD) is an X-linked, recessive and lethal genetic disease, which usually caused by gene mutations and the underlying mechanisms are complicated and diverse. The causal gene of DMD is the largest one in human that locates in the region of Xp21.2, encoding dystrophin. Currently there is no effective treatment for DMD patients. The treatment of DMD depends on gene mutation and molecular mechanism study of the disease, which requires reliable disease models such as mdx mouse model. Recently, researchers have increasingly discovered gene therapy strategies for DMD, and the efficacy has been demonstrated in DMD animal models...
May 25, 2016: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/28195574/muscle-specific-crispr-cas9-dystrophin-gene-editing-ameliorates-pathophysiology-in-a-mouse-model-for-duchenne-muscular-dystrophy
#14
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
Gene replacement therapies utilizing adeno-associated viral (AAV) vectors hold great promise for treating Duchenne muscular dystrophy (DMD). A related approach uses AAV vectors to edit specific regions of the DMD gene using CRISPR/Cas9. Here we develop multiple approaches for editing the mutation in dystrophic mdx(4cv) mice using single and dual AAV vector delivery of a muscle-specific Cas9 cassette together with single-guide RNA cassettes and, in one approach, a dystrophin homology region to fully correct the mutation...
February 14, 2017: Nature Communications
https://www.readbyqxmd.com/read/28161362/ngf-dependent-axon-growth-and-regeneration-are-altered-in-sympathetic-neurons-of-dystrophic-mdx-mice
#15
Loredana Lombardi, Irene Persiconi, Alessandra Gallo, Casper C Hoogenraad, Maria Egle De Stefano
Duchenne muscular dystrophy (DMD) is a lethal disease, determined by lack of dystrophin (Dp427), a muscular cytoskeletal protein also expressed by selected neuronal populations. Consequently, besides muscular wasting, both human patients and DMD animal models suffer several neural disorders. In previous studies on the superior cervical ganglion (SCG) of wild type and dystrophic mdx mice (Lombardi et al. 2008), we hypothesized that Dp427 could play some role in NGF-dependent axonal growth, both during development and adulthood...
February 2, 2017: Molecular and Cellular Neurosciences
https://www.readbyqxmd.com/read/28103859/treatment-with-soluble-activin-type-iib-receptor-improves-bone-mass-and-strength-in-a-mouse-model-of-duchenne-muscular-dystrophy
#16
Tero Puolakkainen, Hongqian Ma, Heikki Kainulainen, Arja Pasternack, Timo Rantalainen, Olli Ritvos, Kristiina Heikinheimo, Juha J Hulmi, Riku Kiviranta
BACKGROUND: Inhibition of activin/myostatin pathway has emerged as a novel approach to increase muscle mass and bone strength. Duchenne muscular dystrophy (DMD) is a neuromuscular disorder that leads to progressive muscle degeneration and also high incidence of fractures. The aim of our study was to test whether inhibition of activin receptor IIB ligands with or without exercise could improve bone strength in the mdx mouse model for DMD. METHODS: Thirty-two mdx mice were divided to running and non-running groups and to receive either PBS control or soluble activin type IIB-receptor (ActRIIB-Fc) once weekly for 7 weeks...
January 19, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28089792/pharmacological-inhibition-of-pkc%C3%AE-counteracts-muscle-disease-in-a-mouse-model-of-duchenne-muscular-dystrophy
#17
V Marrocco, P Fiore, A Benedetti, S Pisu, E Rizzuto, A Musarò, L Madaro, B Lozanoska-Ochser, M Bouché
Inflammation plays a considerable role in the progression of Duchenne Muscular Dystrophy (DMD), a severe muscle disease caused by a mutation in the dystrophin gene. We previously showed that genetic ablation of Protein Kinase C θ (PKCθ) in mdx, the mouse model of DMD, improves muscle healing and regeneration, preventing massive inflammation. To establish whether pharmacological targeting of PKCθ in DMD can be proposed as a therapeutic option, in this study we treated young mdx mice with the PKCθ inhibitor Compound 20 (C20)...
February 2017: EBioMedicine
https://www.readbyqxmd.com/read/28063157/a-new-method-of-genotyping-mdx-4cv-mice-by-pcr-rflp-analysis
#18
Elisia D Tichy, Foteini Mourkioti
INTRODUCTION: The mdx(4cv) mouse is a common model to study Duchenne muscular dystrophy. The most used methodology to identify the genotype of these mice is Sanger DNA sequencing. METHODS: Here, we provide a simple, cost-effective alternative approach to identify the wild-type, heterozygous, or homozygous/hemizygous genotypes of these mice, using commonly available laboratory equipment and reagents. RESULTS: Our technique exploits a restriction fragment length polymorphism that is generated by the point mutation found in exon 53 of mdx(4cv) mice...
January 7, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28057817/contractile-efficiency-of-dystrophic-mdx-mouse-muscle-in-vivo-and-ex-vivo-assessment-of-adaptation-to-exercise-of-functional-end-points
#19
Roberta Francesca Capogrosso, Paola Mantuano, Anna Cozzoli, Francesca Sanarica, Ada Maria Massari, Elena Conte, Adriano Fonzino, Arcangela Giustino, Jean-Francois Rolland, Angelo Quaranta, Michela De Bellis, Giulia Maria Camerino, Robert W Grange, Annamaria De Luca
Progressive weakness is a typical feature of Duchenne muscular dystrophy (DMD) patients and is exacerbated in the benign mdx mouse model by in vivo treadmill exercise. We hypothesized a different threshold for functional adaptation of mdx muscles in response to the duration of the exercise protocol. In vivo weakness was confirmed by grip strength after 4, 8 and 12 weeks of exercise in mdx mice. Torque measurements revealed that exercise-related weakness in mdx mice correlated with the duration of the protocol, while wild-type (wt) mice were stronger...
January 5, 2017: Journal of Applied Physiology
https://www.readbyqxmd.com/read/28028563/whole-genome-sequencing-reveals-a-7-base-pair-deletion-in-dmd-exon-42-in-a-dog-with-muscular-dystrophy
#20
Peter P Nghiem, Luca Bello, Cindy Balog-Alvarez, Sara Mata López, Amanda Bettis, Heather Barnett, Briana Hernandez, Scott J Schatzberg, Richard J Piercy, Joe N Kornegay
Dystrophin is a key cytoskeletal protein coded by the Duchenne muscular dystrophy (DMD) gene located on the X-chromosome. Truncating mutations in the DMD gene cause loss of dystrophin and the classical DMD clinical syndrome. Spontaneous DMD gene mutations and associated phenotypes occur in several other species. The mdx mouse model and the golden retriever muscular dystrophy (GRMD) canine model have been used extensively to study DMD disease pathogenesis and show efficacy and side effects of putative treatments...
April 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
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