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Duchennes muscular dystrophy

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https://www.readbyqxmd.com/read/28937030/a-de-novo-mutation-in-dystrophin-causing-muscular-dystrophy-in-a-female-patient
#1
Hao Yu, Yu-Chao Chen, Gong-Lu Liu, Zhi-Ying Wu
BACKGROUND: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive neuromuscular diseases resulting from dystrophin (DMD) gene mutations. It has been known that the carrier of DMD mutations may also have symptoms of the disease. While de novo mutation is quite common in BMD/DMD patients, it is rarely reported in the female carriers. METHODS: Two sporadic Chinese patients with progressive muscular dystrophy and their familial members were recruited...
October 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28935143/vitamin-e-treatment-decreases-muscle-injury-in-mdx-mice
#2
Rafael Dias Mâncio, Túlio de Almeida Hermes, Aline Barbosa Macedo, Daniela Sayuri Mizobuti, Amanda Harduim Valduga, Ian Feller Rupcic, Elaine Minatel
OBJECTIVE: Oxidative stress, in addition to the absence of the dystrophin protein, has been considered an important regulator of Duchenne muscular dystrophy (DMD). Vitamin E presents an important role as a potent antioxidant and in preserving the integrity of the cell membrane. In this study, we evaluated the effects of vitamin E therapy on some physiological pathways that can contribute to muscle injury in the diaphragm muscle of mdx mice (the experimental model of DMD) such as CK levels, inflammatory response, oxidative stress, and the enzymatic antioxidant system...
November 2017: Nutrition
https://www.readbyqxmd.com/read/28933017/present-uses-future-applications-and-technical-underpinnings-of-electrical-impedance-myography
#3
REVIEW
Benjamin Sanchez, Seward B Rutkove
PURPOSE OF REVIEW: In this article, we provide an overview of electrical impedance myography (EIM), including its technical and theoretical basis, a summary of its varied applications, and ongoing developments. RECENT FINDINGS: EIM has been used as a disease severity biomarker in a variety of disorders affecting the muscle, ranging from amyotrophic lateral sclerosis (ALS) to muscular dystrophies to disuse atrophy due to the weightlessness of space. In ALS, studies have demonstrated that major reductions in sample size in clinical trials can be achieved...
September 20, 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28932757/a-five-repeat-micro-dystrophin-gene-ameliorated-dystrophic-phenotype-in-the-severe-dba-2j-mdx-model-of-duchenne-muscular-dystrophy
#4
Chady H Hakim, Nalinda B Wasala, Xiufang Pan, Kasun Kodippili, Yongping Yue, Keqing Zhang, Gang Yao, Brittney Haffner, Sean X Duan, Julian Ramos, Joel S Schneider, N Nora Yang, Jeffrey S Chamberlain, Dongsheng Duan
Micro-dystrophins are highly promising candidates for treating Duchenne muscular dystrophy, a lethal muscle disease caused by dystrophin deficiency. Here, we report robust disease rescue in the severe DBA/2J-mdx model with a neuronal nitric oxide synthase (nNOS)-binding micro-dystrophin vector. 2 × 10(13) vector genome particles/mouse of the vector were delivered intravenously to 10-week-old mice and were evaluated at 6 months of age. Saturated micro-dystrophin expression was detected in all skeletal muscles and the heart and restored the dystrophin-associated glycoprotein complex and nNOS...
September 15, 2017: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/28931764/functional-correction-of-dystrophin-actin-binding-domain-mutations-by-genome-editing
#5
Viktoriia Kyrychenko, Sergii Kyrychenko, Malte Tiburcy, John M Shelton, Chengzu Long, Jay W Schneider, Wolfram-Hubertus Zimmermann, Rhonda Bassel-Duby, Eric N Olson
Dystrophin maintains the integrity of striated muscles by linking the actin cytoskeleton with the cell membrane. Duchenne muscular dystrophy (DMD) is caused by mutations in the dystrophin gene (DMD) that result in progressive, debilitating muscle weakness, cardiomyopathy, and a shortened lifespan. Mutations of dystrophin that disrupt the amino-terminal actin-binding domain 1 (ABD-1), encoded by exons 2-8, represent the second-most common cause of DMD. In the present study, we compared three different strategies for CRISPR/Cas9 genome editing to correct mutations in the ABD-1 region of the DMD gene by deleting exons 3-9, 6-9, or 7-11 in human induced pluripotent stem cells (iPSCs) and by assessing the function of iPSC-derived cardiomyocytes...
September 21, 2017: JCI Insight
https://www.readbyqxmd.com/read/28918017/efficacy-and-safety-profile-of-tricyclo-dna-antisense-oligonucleotides-in-duchenne-muscular-dystrophy-mouse-model
#6
Karima Relizani, Graziella Griffith, Lucía Echevarría, Faouzi Zarrouki, Patricia Facchinetti, Cyrille Vaillend, Christian Leumann, Luis Garcia, Aurélie Goyenvalle
Antisense oligonucleotides (AONs) hold promise for therapeutic splice-switching correction in many genetic diseases. However, despite advances in AON chemistry and design, systemic use of AONs is limited due to poor tissue uptake and sufficient therapeutic efficacy is still difficult to achieve. A novel class of AONs made of tricyclo-DNA (tcDNA) is considered very promising for the treatment of Duchenne muscular dystrophy (DMD), a neuromuscular disease typically caused by frameshifting deletions or nonsense mutations in the gene-encoding dystrophin and characterized by progressive muscle weakness, cardiomyopathy, and respiratory failure in addition to cognitive impairment...
September 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28915917/translocation-of-molecular-chaperones-to-the-titin-springs-is-common-in-skeletal-myopathy-patients-and-affects-sarcomere-function
#7
Andreas Unger, Lisa Beckendorf, Pierre Böhme, Rudolf Kley, Marion von Frieling-Salewsky, Hanns Lochmüller, Rolf Schröder, Dieter O Fürst, Matthias Vorgerd, Wolfgang A Linke
Myopathies encompass a wide variety of acquired and hereditary disorders. The pathomechanisms include structural and functional changes affecting, e.g., myofiber metabolism and contractile properties. In this study, we observed increased passive tension (PT) of skinned myofibers from patients with myofibrillar myopathy (MFM) caused by FLNC mutations (MFM-filaminopathy) and limb-girdle muscular dystrophy type-2A due to CAPN3 mutations (LGMD2A), compared to healthy control myofibers. Because the giant protein titin determines myofiber PT, we measured its molecular size and the titin-to-myosin ratio, but found no differences between myopathies and controls...
September 15, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28914735/palliative-care-in-neuromuscular-diseases
#8
Marianne de Visser, David J Oliver
PURPOSE OF REVIEW: Palliative care is an approach that improves the quality of life of patients and their families facing the problem associated with life-threatening illness. Neuromuscular disorders (NMDs) are characterized by progressive muscle weakness, leading to pronounced and incapacitating physical disabilities. Most NMDs are not amenable to curative treatment and would thus qualify for palliative care. Amyotrophic lateral sclerosis is a relentlessly progressive disease, which leads to death about 2 years after onset due to respiratory muscle weakness...
September 13, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28904987/respiratory-magnetic-resonance-imaging-biomarkers-in-duchenne-muscular-dystrophy
#9
Ami Mankodi, William Kovacs, Gina Norato, Nathan Hsieh, W Patricia Bandettini, Courtney A Bishop, Hirity Shimellis, Rexford D Newbould, Eunhee Kim, Kenneth H Fischbeck, Andrew E Arai, Jianhua Yao
OBJECTIVE: To examine the diaphragm and chest wall dynamics with cine breathing magnetic resonance imaging (MRI) in ambulatory boys with Duchenne muscular dystrophy (DMD) without respiratory symptoms and controls. METHODS: In 11 DMD boys and 15 controls, cine MRI of maximal breathing was recorded for 10 sec. The lung segmentations were done by an automated pipeline based on a Holistically-Nested Network model (HNN method). Lung areas, diaphragm, and chest wall motion were measured throughout the breathing cycle...
September 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28903883/the-natural-history-of-the-patients-with-duchenne-muscular-dystrophy-in-taiwan-a-medical-center-experience
#10
Wen-Chen Liang, Chen-Hua Wang, Po-Ching Chou, Wan-Zi Chen, Yuh-Jyh Jong
BACKGROUND: Duchenne muscular dystrophy (DMD) is the most common hereditary muscular dystrophy and caused by DMD gene mutation. In addition to progressive proximal muscle weakness, respiratory, orthopedic, and gastrointestinal complications are often observed in DMD. The natural history of patients with DMD in Taiwan has not been reported thus far. METHODS: Medical records of 39 patients who received a diagnosis of DMD between 1999 and 2016 at Kaohsiung Medical University Hospital were reviewed...
August 25, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28899790/alisporivir-rescues-defective-mitochondrial-respiration-in-duchenne-muscular-dystrophy
#11
Marco Schiavone, Alessandra Zulian, Sara Menazza, Valeria Petronilli, Francesco Argenton, Luciano Merlini, Patrizia Sabatelli, Paolo Bernardi
Duchenne muscular dystrophy (DMD) is a severe muscle disease of known etiology without effective, or generally applicable therapy. Mitochondria are affected by the disease in animal models but whether mitochondrial dysfunction is part of the pathogenesis in patients remains unclear. We show that primary cultures obtained from muscle biopsies of DMD patients display a decrease of the respiratory reserve, a consequence of inappropriate opening of the permeability transition pore (PTP). Treatment with the cyclophilin inhibitor alisporivir - a cyclosporin A derivative that desensitizes the PTP but does not inhibit calcineurin - largely restored the maximal respiratory capacity without affecting basal oxygen consumption in cells from patients, thus reinstating a normal respiratory reserve...
September 9, 2017: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/28899419/increased-plasma-lipid-levels-exacerbate-muscle-pathology-in-the-mdx-mouse-model-of-duchenne-muscular-dystrophy
#12
Nadia Milad, Zoe White, Arash Y Tehrani, Stephanie Sellers, Fabio M V Rossi, Pascal Bernatchez
BACKGROUND: Duchenne muscular dystrophy (DMD) is caused by loss of dystrophin expression and leads to severe ambulatory and cardiac function decline. However, the dystrophin-deficient mdx murine model of DMD only develops a very mild form of the disease. Our group and others have shown vascular abnormalities in animal models of MD, a likely consequence of the fact that blood vessels express the same dystrophin-associated glycoprotein complex (DGC) proteins as skeletal muscles. METHODS: To test the blood vessel contribution to muscle damage in DMD, mdx (4cv) mice were given elevated lipid levels via apolipoprotein E (ApoE) gene knockout combined with normal chow or lipid-rich Western diets...
September 12, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/28895939/sleep-disorders-in-childhood-neurogenetic-disorders
#13
REVIEW
Laura Beth Mann Dosier, Bradley V Vaughn, Zheng Fan
enetic advances in the past three decades have transformed our understanding and treatment of many human diseases including neurogenetic disorders. Most neurogenetic disorders can be classified as "rare disease," but collectively neurogenetic disorders are not rare and are commonly encountered in general pediatric practice. The authors decided to select eight relatively well-known neurogenetic disorders including Down syndrome, Angelman syndrome, Prader-Willi syndrome, Smith-Magenis syndrome, congenital central hypoventilation syndrome, achondroplasia, mucopolysaccharidoses, and Duchenne muscular dystrophy...
September 12, 2017: Children
https://www.readbyqxmd.com/read/28893959/mutation-based-therapy-for-duchenne-muscular-dystrophy-antisense-treatment-arrives-in-the-clinic
#14
Elizabeth M McNally, Eugene J Wyatt
No abstract text is available yet for this article.
September 12, 2017: Circulation
https://www.readbyqxmd.com/read/28889642/treating-pediatric-neuromuscular-disorders-the-future-is-now
#15
REVIEW
James J Dowling, Hernan D Gonorazky, Ronald D Cohn, Craig Campbell
Pediatric neuromuscular diseases encompass all disorders with onset in childhood and where the primary area of pathology is in the peripheral nervous system. These conditions are largely genetic in etiology, and only those with a genetic underpinning will be presented in this review. This includes disorders of the anterior horn cell (e.g., spinal muscular atrophy), peripheral nerve (e.g., Charcot-Marie-Tooth disease), the neuromuscular junction (e.g., congenital myasthenic syndrome), and the muscle (myopathies and muscular dystrophies)...
September 10, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28887840/pre-clinical-evaluation-of-n-acetylcysteine-reveals-side-effects-in-the-mdx-mouse-model-of-duchenne-muscular-dystrophy
#16
Gavin J Pinniger, Jessica R Terrill, Evanna B Assan, Miranda D Grounds, Peter G Arthur
Duchenne Muscular Dystrophy (DMD) is a fatal X-linked muscle wasting disease characterised by severe muscle weakness, necrosis, inflammation and oxidative stress. The antioxidant N-acetylcysteine (NAC) has been proposed as a potential therapeutic intervention for DMD boys. We investigated the capacity of NAC to improve dystrophic muscle function in the mdx mouse model of DMD. Young (6 w old) mdx and non-dystrophic C57 mice receiving 2% NAC in drinking water for 6 w were compared with untreated mice. Grip strength and body weight were measured weekly, before the 12 w old mice were anaesthetized and extensor digitorum longus (EDL) muscles excised for functional analysis and tissues sampled for biochemical analyses...
September 9, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28887614/the-pro-fibrotic-connective-tissue-growth-factor-ctgf-ccn2-correlates-with-the-number-of-necrotic-regenerative-foci-in-dystrophic-muscle
#17
María Gabriela Morales, María José Acuña, Daniel Cabrera, Roel Goldschmeding, Enrique Brandan
Connective tissue growth factor (CTGF/CCN2) has strong inflammatory and profibrotic activities. Its expression is enhanced in skeletal muscular dystrophies such as Duchenne muscular dystrophy (DMD), a myopathy characterized by exacerbated inflammation and fibrosis. In dystrophic tissue, necrotic-regenerative foci, myofibroblasts, newly-regenerated muscle fibers and necrosis all occur simultaneously. To determine if CCN2 is involved in the appearance of the foci, we studied their presence and characteristics in mdx mice (DMD mouse model) compared to mdx mice hemizygous for CCN2 (mdx-Ccn2+/-)...
September 8, 2017: Journal of Cell Communication and Signaling
https://www.readbyqxmd.com/read/28881525/-progress-in-gene-therapy-for-duchenne-muscular-dystrophy
#18
S Y Cui, A J Cai, X D Kong
No abstract text is available yet for this article.
September 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28881009/seeking-a-better-landscape-for-therapy-development-in-neuromuscular-disorders
#19
Jane Larkindale, John D Porter
While the neuromuscular field has seen accelerated approval of a drug for Duchenne muscular dystrophy (DMD) and full approval of one for spinal muscular atrophy, these experiences have shown that objective data and an adequate level of effect are essential for drug approval and reimbursement. The appropriateness and validity of biomarkers and clinically meaningful endpoints, and an understanding of disease progression rates, all played essential roles in the levels of evidence for these drugs. Such tools are best developed through integration of clinical data...
September 7, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28880848/deflazacort-emflaza-for-duchenne-muscular-dystrophy
#20
(no author information available yet)
No abstract text is available yet for this article.
September 11, 2017: Medical Letter on Drugs and Therapeutics
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