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Duchenne muscular dystrophy

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https://www.readbyqxmd.com/read/29351413/mitochondrial-content-is-preserved-throughout-disease-progression-in-the-mdx-mouse-model-of-duchenne-muscular-dystrophy-regardless-of-taurine-supplementation
#1
Robert G Barker, Victoria L Wyckelsma, Hongyang Xu, Robyn M Murphy
Mitochondrial dysfunction is a pathological feature of Duchenne muscular Dystrophy (DMD), a debilitating and fatal neuromuscular disorder characterised by progressive muscle wasting and weakness. Mitochondria are a source of cellular ATP and involved in Ca2+ regulation and apoptotic signalling. Ameliorating aberrant mitochondrial function has therapeutic potential for reducing DMD disease severity. The dystrophic mdx mouse exhibits peak muscle damage at 21-28d which stabilises after 8 weeks. The amino acid taurine is implicated in mitochondrial health and function, with endogenous concentrations low when measured during the cycle of peak muscle damage in mdx mice...
December 20, 2017: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/29351412/expression-of-ctgf-ccn2-in-response-to-lpa-is-stimulated-by-fibrotic-extracellular-matrix-via-the-integrin-fak-axis
#2
Camilo Riquelme-Guzman, Osvaldo Contreras, Enrique Brandan
Fibrosis is a common feature of several chronic diseases, and is characterized by exacerbated accumulation of extracellular matrix (ECM). Understanding the cellular and molecular mechanisms involved in the development of this condition is crucial for designing efficient treatments for those pathologies. Connective tissue growth factor (CTGF/CCN2) is a pleiotropic protein with strong pro-fibrotic activity. In this report, we present experimental evidence showing that ECM stimulates the synthesis of CTGF in response to lysophosphatidic acid (LPA)...
December 27, 2017: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/29351004/duchenne-muscular-dystrophy-dmd-an-updated-review-of-common-available-therapies
#3
Arash Salmaninejad, Saeed Farajzadeh Valilou, Hadi Bayat, Nader Ebadi, Abdolreza Daraei, Meysam Yousefi, Abolfazl Nesaei, Majid Mojarrad
Duchenne muscular dystrophy (DMD) is a lethal progressive pediatric muscle disorder and genetically inherited as an X-linked disease that caused by mutations in the dystrophin gene. DMD leads to progressive muscle weakness, degeneration, and wasting; finally, follows with the premature demise in affected individual's due to respiratory and/or cardiac failure typically by age of 30. For decades, scientists tried massively to find an effective therapy method, but there is no absolute cure currently for patients with DMD, nevertheless, recent advanced progressions on the treatment of DMD will be hopeful in the future...
January 19, 2018: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29346715/duchenne-muscular-dystrophy-caused-by-a-novel-deep-intronic-dmd-mutation
#4
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/29339778/a-novel-human-muscle-cell-model-of-duchenne-muscular-dystrophy-created-by-crispr-cas9-and-evaluation-of-antisense-mediated-exon-skipping
#5
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/29338029/implicit-learning-deficit-in-children-with-duchenne-muscular-dystrophy-evidence-for-a-cerebellar-cognitive-impairment
#6
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
#7
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
#8
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
#9
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/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/29326902/low-intensity-training-provokes-adaptive-extracellular-matrix-turnover-of-a-muscular-dystrophy-model
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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/29306518/brain-related-comorbidities-in-boys-and-men-with-duchenne-muscular-dystrophy-a-descriptive-study
#19
Ruben G F Hendriksen, Johan S H Vles, Marlien W Aalbers, Richard F M Chin, Jos G M Hendriksen
AIM: Duchenne Muscular Dystrophy (DMD) is more than a muscle disease since there is a higher prevalence of neuropsychological comorbidities. Similarly, the prevalence of epilepsy is increased. Given the nowadays-increasing interest in brain-related comorbidities in DMD, this study aimed to evaluate the relationship between DMD, epilepsy, and associated neurodevelopmental disorders in an international sample of DMD patients. METHOD: Using a questionnaire-based study we investigated the occurrence of self/by-proxy reported brain-related comorbidities in a group of 228 DMD patients...
December 18, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29305755/creation-of-dystrophin-expressing-chimeric-cells-of-myoblast-origin-as-a-novel-stem-cell-based-therapy-for-duchenne-muscular-dystrophy
#20
M Siemionow, J Cwykiel, A Heydemann, J Garcia-Martinez, K Siemionow, E Szilagyi
Over the past decade different stem cell (SC) based approaches were tested to treat Duchenne Muscular Dystrophy (DMD), a lethal X-linked disorder caused by mutations in dystrophin gene. Despite research efforts, there is no curative therapy for DMD. Allogeneic SC therapies aim to restore dystrophin in the affected muscles; however, they are challenged by rejection and limited engraftment. Thus, there is a need to develop new more efficacious SC therapies. Chimeric Cells (CC), created via ex vivo fusion of donor and recipient cells, represent a promising therapeutic option for tissue regeneration and Vascularized Composite Allotransplantation (VCA) due to tolerogenic properties that eliminate the need for lifelong immunosuppression...
January 5, 2018: Stem Cell Reviews
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