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Muscular dystrophy

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https://www.readbyqxmd.com/read/29346715/duchenne-muscular-dystrophy-caused-by-a-novel-deep-intronic-dmd-mutation
#1
Matthew R Ginsberg, Andrew J McCarty, David Lacomis, Hoda Z Abdel-Hamid
No abstract text is available yet for this article.
January 18, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29343633/hydrogel-biomaterials-and-their-therapeutic-potential-for-muscle-injuries-and-muscular-dystrophies
#2
REVIEW
Rachel Lev, Dror Seliktar
Muscular diseases such as muscular dystrophies and muscle injuries constitute a large group of ailments that manifest as muscle weakness, atrophy or fibrosis. Although cell therapy is a promising treatment option, the delivery and retention of cells in the muscle is difficult and prevents sustained regeneration needed for adequate functional improvements. Various types of biomaterials with different physical and chemical properties have been developed to improve the delivery of cells and/or growth factors for treating muscle injuries...
January 2018: Journal of the Royal Society, Interface
https://www.readbyqxmd.com/read/29339778/a-novel-human-muscle-cell-model-of-duchenne-muscular-dystrophy-created-by-crispr-cas9-and-evaluation-of-antisense-mediated-exon-skipping
#3
Takenori Shimo, Kana Hosoki, Yusuke Nakatsuji, Toshifumi Yokota, Satoshi Obika
Oligonucleotide-mediated splicing modulation is a promising therapeutic approach for Duchenne muscular dystrophy (DMD). Recently, eteplirsen, a phosphorodiamidate morpholino oligomer-based splice-switching oligonucleotide (SSO) targeting DMD exon 51, was approved by the U.S. Food and Drug Administration as the first antisense-based drug for DMD patients. For further exploring SSOs targeting other exons in the DMD gene, the efficacy of exon skipping and protein rescue with each SSO sequence needs evaluations in vitro...
January 16, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29338453/proteomic-serum-biomarkers-for-neuromuscular-diseases
#4
Sandra Murphy, Margit Zweyer, Rustam R Mundegar, Dieter Swandulla, Kay Ohlendieck
The clinical evaluation of neuromuscular symptoms often includes the assessment of altered blood proteins or changed enzyme activities. However, the blood concentration of many muscle-derived serum markers is not specific for different neuromuscular disorders and also shows alterations in the course of these diseases. Thus, the establishment of more reliable biomarker signatures for improved muscle diagnostics is required. Areas covered: To address the lack of muscle disease-specific marker molecules, mass spectrometry-based proteomics was applied to the systematic identification and biochemical characterization of new serum biomarker candidates...
January 17, 2018: Expert Review of Proteomics
https://www.readbyqxmd.com/read/29338029/implicit-learning-deficit-in-children-with-duchenne-muscular-dystrophy-evidence-for-a-cerebellar-cognitive-impairment
#5
Stefano Vicari, Giorgia Piccini, Eugenio Mercuri, Roberta Battini, Daniela Chieffo, Sara Bulgheroni, Chiara Pecini, Simona Lucibello, Sara Lenzi, Federica Moriconi, Marika Pane, Adele D'Amico, Guja Astrea, Giovanni Baranello, Daria Riva, Giovanni Cioni, Paolo Alfieri
This study aimed at comparing implicit sequence learning in individuals affected by Duchenne Muscular Dystrophy without intellectual disability and age-matched typically developing children. A modified version of the Serial Reaction Time task was administered to 32 Duchenne children and 37 controls of comparable chronological age. The Duchenne group showed a reduced rate of implicit learning even if in the absence of global intellectual disability. This finding provides further evidence of the involvement of specific aspects of cognitive function in Duchenne muscular dystrophy and on its possible neurobiological substrate...
2018: PloS One
https://www.readbyqxmd.com/read/29336709/novel-mutation-of-the-dystrophin-gene-in-a-child-with-duchenne-muscular-dystrophy
#6
Jingjing Jiang, Tiejia Jiang, Jialu Xu, Jue Shen, Feng Gao
INTRODUCTION: Duchenne muscular dystrophy (DMD) is an X-linked autosomal recessive genetic disorder caused by mutations in DMD gene. Approximately 70% of the mutations are caused by deletions or duplications of DMD exons, while the remaining were minor mutations. CASE REPORT: We present a 5-year-old boy with typical clinical features of DMD. A novel mutation was identified as a c.9358_9359insA of DMD gene by next-generation sequencing. This mutation which was origined from mother, generated a frameshift mutation and resulted in abnormal synthesis of protein polypeptide chains...
January 16, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29333726/calcium-current-properties-in-dystrophin-deficient-ventricular-cardiomyocytes-from-aged-mdx-mice
#7
Lena Rubi, Hannes Todt, Helmut Kubista, Xaver Koenig, Karlheinz Hilber
Duchenne muscular dystrophy (DMD), caused by mutations in the gene encoding for the cytoskeletal protein dystrophin, is linked with severe cardiac complications including cardiomyopathy development and cardiac arrhythmias. We and others recently reported that currents through L-type calcium (Ca) channels were significantly increased, and channel inactivation was reduced in dystrophin-deficient ventricular cardiomyocytes derived from the mdx mouse, the most commonly used animal model for human DMD. These gain-of-function Ca channel abnormalities may enhance the risk of Ca-dependent arrhythmias and cellular Ca overload in the dystrophic heart...
January 2018: Physiological Reports
https://www.readbyqxmd.com/read/29330543/cugc-for-duchenne-muscular-dystrophy-dmd
#8
David J Coote, Mark R Davis, Macarena Cabrera, Merrilee Needham, Nigel G Laing, Kristen J Nowak
No abstract text is available yet for this article.
January 12, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29329560/overexpression-of-the-double-homeodomain-protein-dux4c-interferes-with-myofibrillogenesis-and-induces-clustering-of-myonuclei
#9
Céline Vanderplanck, Alexandra Tassin, Eugénie Ansseau, Sébastien Charron, Armelle Wauters, Céline Lancelot, Kelly Vancutsem, Dalila Laoudj-Chenivesse, Alexandra Belayew, Frédérique Coppée
BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is associated with DNA hypomethylation at the 4q35 D4Z4 repeat array. Both the causal gene DUX4 and its homolog DUX4c are induced. DUX4c is immunodetected in every myonucleus of proliferative cells, while DUX4 is present in only 1/1000 of myonuclei where it initiates a gene deregulation cascade. FSHD primary myoblasts differentiate into either atrophic or disorganized myotubes. DUX4 expression induces atrophic myotubes and associated FSHD markers...
January 12, 2018: Skeletal Muscle
https://www.readbyqxmd.com/read/29329193/mustn1-a-developmentally-regulated-pan-musculoskeletal-cell-marker-and-regulatory-gene
#10
REVIEW
Michael Hadjiargyrou
The Mustn1 gene encodes a small nuclear protein (~9.6 kDa) that does not belong to any known family. Its genomic organization consists of three exons interspersed by two introns and it is highly homologous across vertebrate species. Promoter analyses revealed that its expression is regulated by the AP family of transcription factors, especially c-Fos, Fra-2 and JunD. Mustn1 is predominantly expressed in the major tissues of the musculoskeletal system: bone, cartilage, skeletal muscle and tendon. Its expression has been associated with normal embryonic development, postnatal growth, exercise, and regeneration of bone and skeletal muscle...
January 12, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29328515/magnetic-resonance-imaging-in-facioscapulohumeral-muscular-dystrophy
#11
EDITORIAL
Doris G Leung
No abstract text is available yet for this article.
January 12, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29326902/low-intensity-training-provokes-adaptive-extracellular-matrix-turnover-of-a-muscular-dystrophy-model
#12
Thaís P Gaiad, Murilo X Oliveira, Adalfredo R Lobo, Lívia R Libório, Priscilla A F Pinto, Danielle C Fernandes, Ana Paula Santos, Carlos Eduardo Ambrósio, Alex Sander D Machado
Recommendations of therapeutic exercise in Duchenne muscular dystrophy are still controversial. The hypothesis that a low-intensity training (LIT) protocol leads to muscle adaptations on mdx mice model was tested. Dystrophic male mice with 8 weeks old were separated in exercised (mdxE, n= 8) and sedentary (mdxC, n= 8) groups. Wild-type mice were used as control (WT, n= 8) group. Exercised group underwent a LIT protocol (9 m/min, 30 min, 3 days/wk, 60 days) on a horizontal treadmill. At day 60 all animals were analyzed regarding parameters of markers of muscle lesion and extracellular matrix turnover of muscle tissue by collagens fibers on tibial anterior muscle...
December 2017: Journal of Exercise Rehabilitation
https://www.readbyqxmd.com/read/29326892/role-of-transforming-growth-factor-%C3%AE-in-muscle-damage-and-regeneration-focused-on-eccentric-muscle-contraction
#13
REVIEW
Jooyoung Kim, Joohyung Lee
High-intensity eccentric muscle contraction induces muscle damage. Damaged muscles recover through different processes, including degeneration, inflammation, regeneration, and fibrosis; some of these processes are mediated through the actions of cytokines. The transforming growth factor-beta (TGF-β) is one such cytokine involved in muscle recovery and repair. In this regard, TGF-β regulates the skeletal muscle inflammatory response, inhibits muscle regeneration, regulates extracellular matrix remodeling, and promotes fibrosis...
December 2017: Journal of Exercise Rehabilitation
https://www.readbyqxmd.com/read/29322964/natural-history-of-a-cohort-of-duchenne-muscular-dystrophy-children-seen-between-1998-and-2014-an-observational-study-from-south-india
#14
Ravinder-Jeet Singh, Mahadevappa Manjunath, Veeramani Preethish-Kumar, Kiran Polavarapu, Seena Vengalil, Priya T Thomas, Kandavel Thennarasu, Narayanappa Gayathri, Deepha Sekar, Saraswati Nashi, Atchayaram Nalini
BACKGROUND: Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy. There are no large studies describing its natural course from India. MATERIALS AND METHODS: Immunohistochemically/genetically confirmed DMD patients diagnosed between 1998 and 2014 were ambispectively included. The main aim was to study the natural course of motor milestones, i.e., age at onset of wheelchair status, bedbound state, and age at death, which were considered as primary outcome measures...
January 2018: Neurology India
https://www.readbyqxmd.com/read/29320561/%C3%AE-smooth-muscle-actin-is-not-a-marker-of-fibrogenic-cell-activity-in-skeletal-muscle-fibrosis
#15
Wanming Zhao, Xingyu Wang, Kai-Hui Sun, Lan Zhou
α-Smooth muscle actin (α-SMA) is used as a marker for a subset of activated fibrogenic cells, myofibroblasts, which are regarded as important effector cells of tissue fibrogenesis. We address whether α-SMA-expressing myofibroblasts are detectable in fibrotic muscles of mdx5cv mice, a mouse model for Duchenne muscular dystrophy (DMD), and whether the α-SMA expression correlates with the fibrogenic function of intramuscular fibrogenic cells. α-SMA immunostaining signal was not detected in collagen I (GFP)-expressing cells in fibrotic muscles of ColI-GFP/mdx5cv mice, but it was readily detected in smooth muscle cells lining intramuscular blood vessel walls...
2018: PloS One
https://www.readbyqxmd.com/read/29317080/effective-regeneration-of-dystrophic-muscle-using-autologous-ipsc-derived-progenitors-with-crispr-cas9-mediated-precise-correction
#16
Mackenzie Hagan, Muhammad Ashraf, Il-Man Kim, Neal L Weintraub, Yaoliang Tang
Duchenne muscular dystrophy (DMD) is a lethal muscle wasting disease caused by a lack of dystrophin, which eventually leads to apoptosis of muscle cells and impaired muscle contractility. Clustered Regularly Interspaced Short Palindromic Repeats/CRISPR associated protein 9 (CRISPR/Cas9) gene editing of induced pluripotent stem cells (IPSC) offers the potential to correct the DMD gene defect and create healthy IPSC for autologous cell transplantation without causing immune activation. However, IPSC carry a risk of tumor formation, which can potentially be mitigated by differentiation of IPSC into myogenic progenitor cells (MPC)...
January 2018: Medical Hypotheses
https://www.readbyqxmd.com/read/29316663/modulation-of-protein-quality-control-and-proteasome-to-autophagy-switch-in-immortalized-myoblasts-from-duchenne-muscular-dystrophy-patients
#17
Marion Wattin, Loïc Gaweda, Pascale Muller, Mathieu Baritaud, Charlotte Scholtes, Chloé Lozano, Kathrin Gieseler, Carole Kretz-Remy
The maintenance of proteome integrity is of primary importance in post-mitotic tissues such as muscle cells; thus, protein quality control mechanisms must be carefully regulated to ensure their optimal efficiency, a failure of these processes being associated with various muscular disorders. Duchenne muscular dystrophy (DMD) is one of the most common and severe forms of muscular dystrophies and is caused by mutations in the dystrophin gene. Protein quality control modulations have been diversely observed in degenerating muscles of patients suffering from DMD or in animal models of the disease...
January 7, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29315904/the-effects-of-ageing-on-mouse-muscle-microstructure-a-comparative-study-of-time-dependent-diffusion-mri-and-histological-assessment
#18
Paola Porcari, Matt G Hall, Chris A Clark, Elizabeth Greally, Volker Straub, Andrew M Blamire
The investigation of age-related changes in muscle microstructure between developmental and healthy adult mice may help us to understand the clinical features of early-onset muscle diseases, such as Duchenne muscular dystrophy. We investigated the evolution of mouse hind-limb muscle microstructure using diffusion imaging of in vivo and in vitro samples from both actively growing and mature mice. Mean apparent diffusion coefficients (ADCs) of the gastrocnemius and tibialis anterior muscles were determined as a function of diffusion time (Δ), age (7...
January 9, 2018: NMR in Biomedicine
https://www.readbyqxmd.com/read/29314725/automatic-quantification-of-microscopic-heart-damage-in-a-mouse-model-of-duchenne-muscular-dystrophy-using-optical-polarization-tractography
#19
Yuanbo Wang, Mohammadreza Ravanfar, Keqing Zhang, Dongsheng Duan, Gang Yao
Quantification of microscopic myocardium damage in a diseased heart is important in studying disease progression and evaluating treatment outcome. However, it is challenging to use traditional histology and existing medical imaging modalities to quantify all microscopic damages in a small animal heart. Here, a method was developed for fast visualization and quantification of focal tissue damage in the mouse heart based on the fiber alignment index of the local myofiber organization obtained in optical polarization tractography (OPT)...
January 4, 2018: Journal of Biophotonics
https://www.readbyqxmd.com/read/29312873/left-ventricular-deformation-abnormalities-in-a-patient-with-calpainopathy-a-case-from-the-three-dimensional-speckle-tracking-echocardiographic-magyar-path-study
#20
Attila Nemes, Lívia Dézsi, Péter Domsik, Anita Kalapos, Tamás Forster, László Vécsei
Calpainopathy or limb-girdle muscular dystrophy type 2A (LGMD2A) is the most common type of autosomal recessive limb-girdle muscular dystrophies. The disease is caused by mutations in the CAPN3 gene encoding calpain, a protein involved in muscle membrane remodeling and repair. This paper gives an overview of the genetic background, clinical course, and diagnosis of the disease, and presents the first case of calpainopathy in which cardiac deformation mechanics was investigated. Three-dimensional speckle-tracking echocardiography (3DSTE) demonstrated reduced left ventricular (LV) strains and increased LV apical rotation and twist, suggestive of asymptomatic subclinical LV dysfunction...
December 2017: Quantitative Imaging in Medicine and Surgery
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