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https://www.readbyqxmd.com/read/28918017/efficacy-and-safety-profile-of-tricyclo-dna-antisense-oligonucleotides-in-duchenne-muscular-dystrophy-mouse-model
#1
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
#2
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/28915807/descemet-membrane-detachment-in-femtosecond-laser-assisted-cataract-surgery-a-case-report
#3
Peiqing Chen, Yanan Zhu, Ke Yao
BACKGROUND: Femtosecond laser-assisted cataract surgery (FLACS) has grown in popularity among ophthalmologists as a novel technique. However, descemet membrane detachment (DMD) began to be found as the complication after FLACS. We report a case of serious DMD following FLACS due to the inappropriate incision design. CASE PRESENTATION: An 85-year-old man with apparent cornea arcus senilis underwent femtosecond laser-assisted cataract surgery in his right eye. A biplanar model was chosen for the main incision...
September 16, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28905183/effects-of-quebracho-tannin-extract-on-intake-digestibility-rumen-fermentation-and-methane-production-in-crossbred-heifers-fed-low-quality-tropical-grass
#4
A T Piñeiro-Vázquez, G Jiménez-Ferrer, J A Alayon-Gamboa, A J Chay-Canul, A J Ayala-Burgos, C F Aguilar-Pérez, J C Ku-Vera
The aim of this work was to evaluate the effect of quebracho tannins extract (QTE) on feed intake, dry matter (DM) digestibility, and methane (CH4) emissions in cattle fed low-quality Pennisetum purpureum grass. Five heifers (Bos taurus × Bos indicus) with an average live weight (LW) of 295 ± 19 kg were allotted to five treatments (0, 1, 2, 3, and 4% QTE/kg DM) in a 5 × 5 Latin square design. Intake, digestibility, and total methane emissions (L/day) were recorded for periods of 23 h when cattle were housed in open-circuit respiration chambers...
September 13, 2017: Tropical Animal Health and Production
https://www.readbyqxmd.com/read/28904987/respiratory-magnetic-resonance-imaging-biomarkers-in-duchenne-muscular-dystrophy
#5
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
#6
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/28901513/antitumor-activity-of-2%C3%A2-2e-%C3%A2-3-7%C3%A2-dimethyl%C3%A2-2-6%C3%A2-octadienyl-%C3%A2-6%C3%A2-methyl%C3%A2-2-5%C3%A2-cyclohexadiene%C3%A2-1-4%C3%A2-dione-isolated-from-the-aerial-part-of-atractylodes%C3%A2-macrocephala-in-hepatocellular-carcinoma
#7
Lei Li, Rui Zhao, Ying Li, Wen-Hui Wang
2‑[(2E)‑3,7‑dimethyl‑2,6‑octadienyl]‑6‑methy l‑2,5‑cyclohexadiene‑1,4‑dione (DMD) is a compound isolated from Atractylodes macrocephala; however, its antitumor activity has not yet been investigated. Therefore, the present study aimed to investigate the antitumor activity of DMD in the H22 mouse hepatocellular carcinoma (HCC) cell line in vitro and in vivo. In the present study, the antiproliferative effects of DMD against H22 cells were evaluated using the MTT assay in vitro. Furthermore, xenograft nude mice were established to evaluate the antitumor effects of DMD on H22 cells in vivo...
August 29, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28899790/alisporivir-rescues-defective-mitochondrial-respiration-in-duchenne-muscular-dystrophy
#8
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
#9
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/28887840/pre-clinical-evaluation-of-n-acetylcysteine-reveals-side-effects-in-the-mdx-mouse-model-of-duchenne-muscular-dystrophy
#10
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
#11
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/28881009/seeking-a-better-landscape-for-therapy-development-in-neuromuscular-disorders
#12
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/28879884/global-muscular-dystrophy-research-a-25-year-bibliometric-perspective
#13
REVIEW
Shri Ram
Muscular dystrophy is a genetic disorder leading to progressive weakness of muscles caused due to dysfunction in or lack of protein in muscle cells. The prevalence of muscular dystrophy has been observed globally and is becoming a critical area of study for better health services. The purpose of the study is to analyze the research strength of muscular dystrophy using bibliographic literature. A quantitative literature analysis was carried out on muscular dystrophy from 1991 to 2015 for assessing the global research trends...
September 2017: Neurology India
https://www.readbyqxmd.com/read/28878337/precise-mapping-of-17-deletion-breakpoints-within-the-central-hotspot-deletion-region-introns-50-and-51-of-the-dmd-gene
#14
Gabriella Esposito, Maria Roberta Tremolaterra, Evelina Marsocci, Igor Cm Tandurella, Tiziana Fioretti, Maria Savarese, Antonella Carsana
Exon deletions in the human DMD gene, which encodes the dystrophin protein, are the molecular defect in 50-70% of cases of Duchenne/Becker muscular dystrophies. Deletions are preferentially clustered in the 5' (exons 2-20) and the central (exons 45-53) region of DMD, likely because local DNA structure predisposes to specific breakage or recombination events. Notably, innovative therapeutic strategies may rescue dystrophin function by homology-based specific targeting of sequences within the central DMD hot spot deletion region...
September 7, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28877219/a-new-approach-to-chromosome-wide-analysis-of-x-linked-markers-identifies-new-associations-in-asian-and-european-case-parent-triads-of-orofacial-clefts
#15
Øivind Skare, Håkon K Gjessing, Miriam Gjerdevik, Øystein A Haaland, Julia Romanowska, Rolv T Lie, Astanand Jugessur
BACKGROUND: GWAS discoveries on the X-chromosome are underrepresented in the literature primarily because the analytical tools that have been applied were originally designed for autosomal markers. Our objective here is to employ a new robust and flexible tool for chromosome-wide analysis of X-linked markers in complex traits. Orofacial clefts are good candidates for such analysis because of the consistently observed excess of females with cleft palate only (CPO) and excess of males with cleft lip with or without cleft palate (CL/P)...
2017: PloS One
https://www.readbyqxmd.com/read/28877195/spatial-and-age-related-changes-in-the-microstructure-of-dystrophic-and-healthy-diaphragms
#16
Catherine C Henry, Kyle S Martin, Bridget B Ward, Geoffrey G Handsfield, Shayn M Peirce, Silvia S Blemker
Duchenne muscular dystrophy (DMD) is a progressive degenerative disease that results in fibrosis and atrophy of muscles. The main cause of death associated with DMD is failure of the diaphragm. The diaphragm is a dome-shaped muscle with a fiber microstructure that differs across regions of the muscle. However, no studies to our knowledge have examined spatial variations of muscle fibers in dystrophic diaphragm or how aging affects those variations in DMD. In this study, diaphragms were obtained from mdx and healthy mice at ages three, seven, and ten months in the dorsal, midcostal, and ventral regions...
2017: PloS One
https://www.readbyqxmd.com/read/28873883/one-dimensional-input-device-of-electric-wheelchair-for-persons-with-severe-duchenne-muscular-dystrophy
#17
Lele Xi, Yuki Yamamoto, Motoki Shino
Persons with severe Duchenne Muscular Dystrophy (DMD) usually have difficult in operating electric wheelchairs (EW) using standard input device due to the lack of muscular power and the deformation of their hands. This paper proposed a novel one dimensional two degree of freedom (1D2F) input device based on the quantitative evaluation of hand function which consists of fingertip force and active range of motion. The validity and the operating features of this device are demonstrated by experiments.
2017: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/28869486/efficacy-of-idebenone-to-preserve-respiratory-function-above-clinically-meaningful-thresholds-for-forced-vital-capacity-fvc-in-patients-with-duchenne-muscular-dystrophy
#18
Oscar H Mayer, Mika Leinonen, Christian Rummey, Thomas Meier, Gunnar M Buyse
BACKGROUND: Patients with DMD experience progressive restrictive respiratory disease and eventual respiratory failure. Standard of care guidelines command changes in disease management when forced vital capacity percent of predicted (FVC% p) falls below clinically relevant thresholds. The Phase 3 DELOS trial in patients with DMD demonstrated that idebenone reduces the loss of peak expiratory flow and FVC compared to placebo (Buyse GM, et al.; Lancet 2015; 385 : 1748-57). OBJECTIVE: Post-hoc analyses were conducted to assess whether treatment with idebenone could reduce the risk of patients dropping below clinically meaningful thresholds of FVC% p...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28869484/efficient-skipping-of-single-exon-duplications-in-dmd-patient-derived-cell-lines-using-an-antisense-oligonucleotide-approach
#19
Nicolas Wein, Adeline Vulin, Andrew R Findlay, Felecia Gumienny, Nianyuan Huang, Steve D Wilton, Kevin M Flanigan
BACKGROUND: Exon skipping strategies in Duchenne muscular dystrophy (DMD) have largely been directed toward altering splicing of exons flanking out-of-frame deletions, with the goal of restoring an open mRNA reading frame that leads to production of an internally deleted but partially functional dystrophin protein. OBJECTIVE: We sought to apply exon skipping to duplication mutations, assuming that the inherently limited efficiency of antisense oligonucleotide-induced exon skipping would more frequently skip a single copy of a duplicated exon, rather than both and result in significant amounts of wild-type DMD mRNA...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28869151/energy-expenditure-body-composition-and-prevalence-of-metabolic-disorders-in-patients-with-duchenne-muscular-dystrophy
#20
Carola Saure, Carolina Caminiti, Julieta Weglinski, Fernanda de Castro Perez, Soledad Monges
INTRODUCTION: Duchenne muscular dystrophy (DMD) is a severe muscular disease characterized by progressive loss of functional muscle mass followed by changes in body composition. AIM: To describe body composition, resting energy expenditure (REE), and metabolic disorders in DMD patients followed-up at a tertiary care center. To analyze the association with type of steroid and ambulatory status, and to compare obese DMD patients with patients with multifactorial obesity...
August 26, 2017: Diabetes & Metabolic Syndrome
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