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Duchene muscular dystrophy

Abhinandan Batra, Ann Harrington, Donovan J Lott, Rebecca Willcocks, Claudia Senesac, William McGehee, Dandan Xu, Sunita Mathur, Michael J Daniels, William D Rooney, Sean C Forbes, William Triplett, Jasjit K Deol, Ishu Arpan, Roxanne Bendixen, Richard Finkel, Erika Finanger, Gihan Tennekoon, Barry Byrne, Barry Russman, Lee H Sweeney, Glenn Walter, Krista Vandenborne
OBJECTIVE: The main objective of this study were to examine the effect of disease on strength in two functionally important lower limb muscles over a period of two-years in children with Duchene Muscular Dystrophy (DMD). DESIGN: Seventy-Seven DMD children participated in this study. Plantar flexors (PF), knee extensors (KE) strength and performance on timed tests (Six-min walk, 4-stairs, 10m-walk, supine-up) was assessed yearly over two-years. Multivariate normal regression was used to assess changes in strength over time in the DMD group...
May 2, 2018: American Journal of Physical Medicine & Rehabilitation
Gonzalo Cordova, Elisa Negroni, Claudio Cabello-Verrugio, Vincent Mouly, Capucine Trollet
Duchene Muscular Dystrophy (DMD) is the most frequent muscular dystrophy and one of the most severe due to the absence of the dystrophin protein. Typical pathological features include muscle weakness, muscle wasting, degeneration, and inflammation. At advanced stages DMD muscles present exacerbated extracellular matrix and fat accumulation. Recent progress in therapeutic approaches has allowed new strategies to be investigated, including pharmacological, gene-based and cell-based therapies. Gene and cell-based therapies are still limited by poor targeting and low efficiency in fibrotic dystrophic muscle, therefore it is increasingly evident that future treatments will have to include "combined therapies" to reach maximal efficiency...
2018: Frontiers in Genetics
Sara Martina Maffioletti, Shilpita Sarcar, Alexander B H Henderson, Ingra Mannhardt, Luca Pinton, Louise Anne Moyle, Heather Steele-Stallard, Ornella Cappellari, Kim E Wells, Giulia Ferrari, Jamie S Mitchell, Giulia E Tyzack, Vassilios N Kotiadis, Moustafa Khedr, Martina Ragazzi, Weixin Wang, Michael R Duchen, Rickie Patani, Peter S Zammit, Dominic J Wells, Thomas Eschenhagen, Francesco Saverio Tedesco
Generating human skeletal muscle models is instrumental for investigating muscle pathology and therapy. Here, we report the generation of three-dimensional (3D) artificial skeletal muscle tissue from human pluripotent stem cells, including induced pluripotent stem cells (iPSCs) from patients with Duchenne, limb-girdle, and congenital muscular dystrophies. 3D skeletal myogenic differentiation of pluripotent cells was induced within hydrogels under tension to provide myofiber alignment. Artificial muscles recapitulated characteristics of human skeletal muscle tissue and could be implanted into immunodeficient mice...
April 17, 2018: Cell Reports
Mohammad Barzegar, Elnaz Niknam, Parinaz Habibi, Shadi Shiva, Sanaz Tahmasebi
Objective: Poor bone health with related morbidity is a major problem with Duchene Muscular Dystrophy (DMD). Decreased mobility and long-term corticosteroid therapy are involved in poor bone health in DMD. We investigated bone mineral density and bone metabolism in 30 steroid treated DMD patients and also compared mentioned factors between ambulated and non-ambulated patients. Materials & Methods: In this cross-sectional study, 30 boys (21 patients ambulate and 9 non-ambulate) with documented DMD, according to genetic analysis, were enrolled in 2015...
2018: Iranian Journal of Child Neurology
Benjamin Duchêne, Jean-Paul Iyombe-Engembe, Joël Rousseau, Jacques P Tremblay, Dominique L Ouellet
The discovery of the CRISPR-Cas9 system raises hope for the treatment of many genetic disorders. We describe here an approach based on the use of a pair of single guide RNAs to form a hybrid exon that does not only restore the dystrophin gene reading frame but also results in the production of a dystrophin protein with an adequate structure of the central rod-domain, with a correct spectrin-like repeat. The therapeutic approach described here involved DMD patient cells having a deletion of exons 51-53 of the DMD gene...
2018: Methods in Molecular Biology
Alan S Robertson, Mark J Majchrzak, Courtney M Smith, Robert C Gagnon, Nino Devidze, Glen B Banks, Sean C Little, Fizal Nabbie, Denise I Bounous, Janet DiPiero, Leslie K Jacobsen, Linda J Bristow, Michael K Ahlijanian, Stephen A Stimpson
Enzyme-linked and electrochemiluminescence immunoassays were developed for quantification of amino (N-) terminal fragments of the skeletal muscle protein titin (N-ter titin) and qualified for use in detection of urinary N-ter titin excretion. Urine from normal subjects contained a small but measurable level of N-ter titin (1.0 ± 0.4 ng/ml). A 365-fold increase (365.4 ± 65.0, P = 0.0001) in urinary N-ter titin excretion was seen in Duchene muscular dystrophy (DMD) patients. Urinary N-ter titin was also evaluated in dystrophin deficient rodent models...
July 2017: Neuromuscular Disorders: NMD
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)...
August 2017: Journal of the American Society of Echocardiography
Jacques P Tremblay, Jean-Paul Iyombe-Engembe, Benjamin Duchêne, Dominique L Ouellet
No abstract text is available yet for this article.
November 2016: Molecular Therapy: the Journal of the American Society of Gene Therapy
Edwardo Ramos, José G Conde, Rafael Arias Berrios, Sherly Pardo, Omar Gómez, Manuel F Mas Rodríguez
BACKGROUND: Duchenne and Becker Muscular Dystrophy (DMD and BMD, respectively), are common forms of inherited muscle disease. Information regarding the epidemiology of these conditions, including genotype, is still sparse. OBJECTIVE: To establish the prevalence and genetic profile of DMD and BMD in Puerto Rico. METHODS: We collected data from medical records in all Muscular Dystrophy Association (MDA) clinics in Puerto Rico in order to estimate the prevalence of DMD and BMD and to describe the genotypic profile of these patients...
May 27, 2016: Journal of Neuromuscular Diseases
Dongryeol Ryu, Hongbo Zhang, Eduardo R Ropelle, Vincenzo Sorrentino, Davi A G Mázala, Laurent Mouchiroud, Philip L Marshall, Matthew D Campbell, Amir Safi Ali, Gary M Knowels, Stéphanie Bellemin, Shama R Iyer, Xu Wang, Karim Gariani, Anthony A Sauve, Carles Cantó, Kevin E Conley, Ludivine Walter, Richard M Lovering, Eva R Chin, Bernard J Jasmin, David J Marcinek, Keir J Menzies, Johan Auwerx
Neuromuscular diseases are often caused by inherited mutations that lead to progressive skeletal muscle weakness and degeneration. In diverse populations of normal healthy mice, we observed correlations between the abundance of mRNA transcripts related to mitochondrial biogenesis, the dystrophin-sarcoglycan complex, and nicotinamide adenine dinucleotide (NAD+ ) synthesis, consistent with a potential role for the essential cofactor NAD+ in protecting muscle from metabolic and structural degeneration. Furthermore, the skeletal muscle transcriptomes of patients with Duchene's muscular dystrophy (DMD) and other muscle diseases were enriched for various poly[adenosine 5'-diphosphate (ADP)-ribose] polymerases (PARPs) and for nicotinamide N-methyltransferase (NNMT), enzymes that are major consumers of NAD+ and are involved in pleiotropic events, including inflammation...
October 19, 2016: Science Translational Medicine
Yali Zhang, Hong Wang, Xuexin Yu, Yanlin Xing, Ce Wang, Rong He
OBJECTIVE: To compare the changes in muscle enzyme between children with myocarditis and Duchene/Becker muscular dystrophy (DMD/BMD), and to seek the explanations for variation.
 METHODS: The retrospective analysis for 83 myocarditis children (myocarditis group) and 69 DMD/BMD children (DMD/BMD group), who were collected from Department of Pediatric of Shengjing Hospital affiliated to China Medical University since January 2008 to May 2015, was carried out. At the same time, 24 healthy children from the Department of Pediatric Development served as a control group...
September 28, 2016: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
Alec S T Smith, Jennifer Davis, Gabsang Lee, David L Mack, Deok-Ho Kim
Engineered in vitro models using human cells, particularly patient-derived induced pluripotent stem cells (iPSCs), offer a potential solution to issues associated with the use of animals for studying disease pathology and drug efficacy. Given the prevalence of muscle diseases in human populations, an engineered tissue model of human skeletal muscle could provide a biologically accurate platform to study basic muscle physiology, disease progression, and drug efficacy and/or toxicity. Such platforms could be used as phenotypic drug screens to identify compounds capable of alleviating or reversing congenital myopathies, such as Duchene muscular dystrophy (DMD)...
September 2016: Drug Discovery Today
Mariko Taniguchi-Ikeda, Yasuhiro Takeshima, Tomoko Lee, Masahiro Nishiyama, Hiroyuki Awano, Mariko Yagi, Ai Unzaki, Kandai Nozu, Hisahide Nishio, Masafumi Matsuo, Hiroki Kurahashi, Tatsushi Toda, Ichiro Morioka, Kazumoto Iijima
Duchene muscular dystrophy (DMD) is a progressive muscle wasting disease, caused by mutations in the dystrophin (DMD) on the X chromosome. One-third of patients are estimated to have de novo mutations. To provide in-depth genetic counseling, the comprehensive identification of mutations is mandatory. However, many DMD patients did not undergo genetic diagnosis because detailed genetic diagnosis was not available or their mutational types were difficult to identify. Here we report the genetic testing of a sporadic DMD boy, who died >20 years previously...
April 2016: Journal of Human Genetics
Kenon Chua, Chin Yik Tan, Zhaojin Chen, Hee Kit Wong, Eng Hin Lee, Stacy K H Tay, Hian Tat Ong, Daniel Y T Goh, James H P Hui
BACKGROUND: Spine surgery for neuromuscular scoliosis in patients with Duchenne's Muscular Dystrophy (DMD) and Spinal Muscular Atrophy (SMA) remained controversial. This study aimed to review the long-term results of spine surgery and its effect on pulmonary function in these patients. METHODS: A retrospective review was conducted for the above patients who had undergone surgery from 1990 to 2006 in a tertiary hospital. Their yearly lung function tests, clinical records, and x-ray films before and after surgery were reviewed...
January 2016: Journal of Pediatric Orthopedics
Arkady Uryash, Jorge Bassuk, Paul Kurlansky, Francisco Altamirano, Jose R Lopez, Jose A Adams
The recognition that oxidative stress is a major component of several chronic diseases has engendered numerous trials of antioxidant therapies with minimal or no direct benefits. Nanomolar quantities of nitric oxide released into the circulation by pharmacologic stimulation of eNOS have antioxidant properties but physiologic stimulation as through increased pulsatile shear stress of the endothelium has not been assessed. The present study utilized a non-invasive technology, periodic acceleration (pGz) that increases pulsatile shear stress such that upregulation of cardiac eNOS occurs, We assessed its efficacy in normal mice and mouse models with high levels of oxidative stress, e...
2015: PloS One
Arnaud Ferry, Ara Parlakian, Pierre Joanne, Bodvael Fraysse, Takouhie Mgrditchian, Pauline Roy, Denis Furling, Gillian Butler-Browne, Onnik Agbulut
There is fear that mechanical overloading (OVL; ie, high-force contractions) accelerates Duchenne muscular dystrophy. Herein, we determined whether short-term OVL combined with wheel running, short-term OVL combined with irradiation, and long-term OVL are detrimental for hind limb mdx mouse muscle, a murine model of Duchene muscular dystrophy exhibiting milder dystrophic features. OVL was induced by the surgical ablation of the synergic muscles of the plantaris muscle, a fast muscle susceptible to contraction-induced muscle damage in mdx mice...
July 2015: American Journal of Pathology
Gaëlle Recher, Pascal Coumailleau, Denis Rouède, François Tiaho
Second harmonic generation (SHG) microscopy is a powerful tool for studying submicron architecture of muscles tissues. Using this technique, we show that the canonical single frequency sarcomeric SHG intensity pattern (SHG-IP) of premetamorphic xenopus tadpole tail muscles is converted to double frequency (2f) sarcomeric SHG-IP in metamorphic climax stages due to massive physiological muscle proteolysis. This conversion was found to rise from 7% in premetamorphic muscles to about 97% in fragmented muscular apoptotic bodies...
April 2015: Journal of Structural Biology
Mohammad Barzegar, Parinaz Habibi, Mortaza Bonyady, Vahideh Topchizadeh, Shadi Shiva
OBJECTIVE: Duchene and Becker Muscular Dystrophy (DMD/ BMD) are x-linked disorders that both are the result of heterogeneous mutations in the dystrophin gene. The frequency and distribution of dystrophin gene deletions in DMD/ BMD patients show different patterns among different populations. This study investigates the deletion rate, type, and distribution of this gene in the Azeri Turk population of North West Iran. MATERIALS &METHODS: In this study, 110 patients with DMD/ BMD were studied for intragenic deletions in 24 exons and promoter regions of dystrophin genes by using multiplex PCR...
2015: Iranian Journal of Child Neurology
Gonzalo Córdova, Alice Rochard, Camilo Riquelme-Guzmán, Catalina Cofré, Daniel Scherman, Pascal Bigey, Enrique Brandan
Fibrotic disorders are characterized by an increase in extracellular matrix protein expression and deposition, Duchene Muscular Dystrophy being one of them. Among the factors that induce fibrosis are Transforming Growth Factor type β (TGF-β) and the matricellular protein Connective Tissue Growth Factor (CTGF/CCN2), the latter being a target of the TGF-β/SMAD signaling pathway and is the responsible for the profibrotic effects of TGF-β. Both CTGF and TGF are increased in tissues affected by fibrosis but little is known about the regulation of the expression of CTGF mediated by TGF-β in muscle cells...
September 2015: Journal of Cellular Biochemistry
Alexia Chatziparasidou, Martine Nijs, Martha Moisidou, Oraiopoulou Chara, Christina Ioakeimidou, Christos Pappas, Nicos Christoforidis
BACKGROUND: Low (or poor) responder patients are women who require large doses of stimulation medications and produce less than an optimal number of oocytes during IVF cycles. Low responder patients produce few oocytes and embryos, which significantly reduces their chances for success in a preimplantation genetic diagnosis (PGD) cycle. Accumulation of vitrified oocytes or embryos before the actual PGD cycle is a possible strategy that might increase patient's chances for a healthy pregnancy...
2013: F1000Research
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