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https://www.readbyqxmd.com/read/29316663/modulation-of-protein-quality-control-and-proteasome-to-autophagy-switch-in-immortalized-myoblasts-from-duchenne-muscular-dystrophy-patients
#1
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/29305755/creation-of-dystrophin-expressing-chimeric-cells-of-myoblast-origin-as-a-novel-stem-cell-based-therapy-for-duchenne-muscular-dystrophy
#2
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
https://www.readbyqxmd.com/read/29305136/low-level-dystrophin-expression-attenuating-the-dystrophinopathy-phenotype
#3
Megan A Waldrop, Felecia Gumienny, Saleh El Husayni, Diane E Frank, Robert B Weiss, Kevin M Flanigan
The reading frame rule suggests that Duchenne muscular dystrophy (DMD) results from DMD mutations causing an out-of-frame transcript, whereas the milder Becker muscular dystrophy results from mutations causing an in-frame transcript. However, predicted nonsense mutations may instead result in altered splicing and an in-frame transcript. Here we report a 10-year-old boy with a predicted nonsense mutation in exon 42 who had a 6-minute walk time of 157% of that of age matched DMD controls, characterized as intermediate muscular dystrophy...
November 23, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29276972/identification-of-plasma-interleukins-as-biomarkers-for-deflazacort-and-omega-3-based-duchenne-muscular-dystrophy-therapy
#4
Samara Camaçari de Carvalho, Cintia Yuri Matsumura, Humberto Santo Neto, Maria Julia Marques
Duchenne muscular dystrophy (DMD) is a progressive and fatal disease, characterized by the absence of dystrophin, muscle degeneration and cardiorespiratory failure. Creatine kinase is the classic marker to screen for DMD. However, other markers are needed to follow disease progression and to evaluate the response to therapy over longer periods. In the present study, we aim to identify interleukins in the plasma of the mdx mice model of DMD that could serve as biomarkers to monitor dystrophy progression, at distinct stages of the disease (1, 3 and 8 months of age)...
December 22, 2017: Cytokine
https://www.readbyqxmd.com/read/29250740/blockade-of-bradykinin-receptors-worsens-the-dystrophic-phenotype-of-mdx-mice-differential-effects-for-b1-and-b2-receptors
#5
María José Acuña, Daniela Salas, Adriana Córdova-Casanova, Meilyn Cruz-Soca, Carlos Céspedes, Carlos P Vio, Enrique Brandan
The Kallikrein Kinin System (KKS) is a vasoactive peptide system with known functions in the maintenance of tissue homeostasis, renal function and blood pressure. The main effector peptide of KKS is Bradykinin (BK). This ligand has two receptors: a constitutive B2 receptor (B2R), which has been suggested to have anti-fibrotic effects in renal and cardiac models of fibrosis; and the inducible B1 receptor (B1R), whose expression is induced by damage and inflammation. Inflammation and fibrosis are hallmarks of Duchenne muscular dystrophy (DMD), therefore we hypothesized that the KKS may play a role in this disease...
December 17, 2017: Journal of Cell Communication and Signaling
https://www.readbyqxmd.com/read/29242210/reversible-immortalisation-enables-genetic-correction-of-human-muscle-progenitors-and-engineering-of-next-generation-human-artificial-chromosomes-for-duchenne-muscular-dystrophy
#6
Sara Benedetti, Narumi Uno, Hidetoshi Hoshiya, Martina Ragazzi, Giulia Ferrari, Yasuhiro Kazuki, Louise Anne Moyle, Rossana Tonlorenzi, Angelo Lombardo, Soraya Chaouch, Vincent Mouly, Marc Moore, Linda Popplewell, Kanako Kazuki, Motonobu Katoh, Luigi Naldini, George Dickson, Graziella Messina, Mitsuo Oshimura, Giulio Cossu, Francesco Saverio Tedesco
Transferring large or multiple genes into primary human stem/progenitor cells is challenged by restrictions in vector capacity, and this hurdle limits the success of gene therapy. A paradigm is Duchenne muscular dystrophy (DMD), an incurable disorder caused by mutations in the largest human gene: dystrophin. The combination of large-capacity vectors, such as human artificial chromosomes (HACs), with stem/progenitor cells may overcome this limitation. We previously reported amelioration of the dystrophic phenotype in mice transplanted with murine muscle progenitors containing a HAC with the entire dystrophin locus (DYS-HAC)...
December 14, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/29209866/photobiomodulation-therapy-protects-skeletal-muscle-and-improves-muscular-function-of-mdx-mice-in-a-dose-dependent-manner-through-modulation-of-dystrophin
#7
Gianna Móes Albuquerque-Pontes, Heliodora Leão Casalechi, Shaiane Silva Tomazoni, Andrey Jorge Serra, Cheila de Sousa Bacelar Ferreira, Rodrigo Barbosa de Oliveira Brito, Brunno Lemes de Melo, Adriane Aver Vanin, Kadma Karênina Damasceno Soares Monteiro, Humberto Dellê, Lucio Frigo, Rodrigo Labat Marcos, Paulo de Tarso Camillo de Carvalho, Ernesto Cesar Pinto Leal-Junior
This study aimed to analyze the protective effects of photobiomodulation therapy (PBMT) with combination of low-level laser therapy (LLLT) and light emitting diode therapy (LEDT) on skeletal muscle tissue to delay dystrophy progression in mdx mice (DMD mdx ). To this aim, mice were randomly divided into five different experimental groups: wild type (WT), placebo-control (DMD mdx ), PBMT with doses of 1 J (DMD mdx ), 3 J (DMD mdx ), and 10 J (DMD mdx ). PBMT was performed employing a cluster probe with 9 diodes (1 x 905nm super-pulsed laser diode; 4 x 875nm infrared LEDs; and 4 x 640nm red LEDs, manufactured by Multi Radiance Medical®, Solon - OH, USA), 3 times a week for 14 weeks...
December 5, 2017: Lasers in Medical Science
https://www.readbyqxmd.com/read/29188135/benefits-of-prenatal-taurine-supplementation-in-preventing-the-onset-of-acute-damage-in-the-mdx-mouse
#8
Robert G Barker, Deanna Horvath, Chris van der Poel, Robyn M Murphy
Introduction: Duchenne Muscular Dystrophy (DMD) is a debilitating muscle wasting disorder with no cure. Safer supplements and therapies are needed to improve the severity of symptoms, as severe side effects are associated with the only effective treatment, corticosteroids. The amino acid taurine has shown promise in ameliorating dystrophic symptoms in mdx mice, an animal model of DMD, however little work is in 21-28 (d)ay animals, the period of natural peak damage. Methods: This study compares the effect of prenatal taurine supplementation on tibialis anterior (TA) in situ contractile function, histopathological characteristics and the abundance of Ca2+-handling as well as pathologically relevant proteins in non-exercised mdx mice at 28 and 70 d...
September 22, 2017: PLoS Currents
https://www.readbyqxmd.com/read/29173172/therapeutic-applications-of-crispr-cas-for-duchenne-muscular-dystrophy
#9
Tatianna Wai Ying Wong, Ronald D Cohn
BACKGROUND: Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular disease caused by the lack of dystrophin due to mutations in the DMD gene. Since dystrophin is essential in maintaining the integrity of the sarcolemmal membrane, the absence of the protein leads to muscle damage and DMD disease manifestation. Currently there is no cure with only symptomatic management available. OBJECTIVE: The most recent advancements in DMD therapies do not provide a permanent treatment for DMD...
November 21, 2017: Current Gene Therapy
https://www.readbyqxmd.com/read/29130550/-1-h-nmrs-of-carnosine-combined-with-31-p-nmrs-to-better-characterize-skeletal-muscle-ph-dysregulation-in-duchenne-muscular-dystrophy
#10
Harmen Reyngoudt, Suna Turk, Pierre G Carlier
In recent years, quantitative nuclear magnetic resonance imaging and spectroscopy (NMRI and NMRS) have been used more systematically as outcome measures in natural history and clinical trial studies for Duchenne muscular dystrophy (DMD). Whereas most of these studies have emphasized the evaluation of the fat fraction as an assessment for disease severity, less focus has been placed on metabolic indices measured by NMRS. (31) P NMRS in DMD reveals an alkaline inorganic phosphate (Pi ) pool, originating from either leaky dystrophic myocytes or an increased interstitial space...
November 12, 2017: NMR in Biomedicine
https://www.readbyqxmd.com/read/29123500/efficacy-and-the-safety-of-granulocyte-colony-stimulating-factor-treatment-in-patients-with-muscular-dystrophy-a-non-randomized-clinical-trial
#11
Dorota Sienkiewicz, Wojciech Kułak, Bożena Okurowska-Zawada, Grażyna Paszko-Patej, Janusz Wojtkowski, Karolina Sochoń, Anna Kalinowska, Kamila Okulczyk, Jerzy Sienkiewicz, Edward McEachern
Introduction: The current standard treatment for patients with Duchenne muscular dystrophy (DMD) involves corticosteroids. Granulocyte colony-stimulating factor (G-CSF) induces the proliferation of satellite cells and myoblasts and, in turn, muscle regeneration. Beneficial effects of G-CSF were also described for skeletal muscle disorders. Aim: We assessed the safety and effects of using G-CSF to promote muscle strength in patients with DMD. Materials and methods: Inclusion criteria were as follows: patients aged 5-15 years with diagnosed with DMD confirmed by genetic test or biopsy...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29121992/a-mouse-anti-myostatin-antibody-increases-muscle-mass-and-improves-muscle-strength-and-contractility-in-the-mdx-mouse-model-of-duchenne-muscular-dystrophy-and-its-humanized-equivalent-domagrozumab-pf-06252616-increases-muscle-volume-in-cynomolgus-monkeys
#12
Michael St Andre, Mark Johnson, Prashant N Bansal, Jeremy Wellen, Andrew Robertson, Alan Opsahl, Peter M Burch, Peter Bialek, Carl Morris, Jane Owens
BACKGROUND: The treatments currently approved for Duchenne muscular dystrophy (DMD), a progressive skeletal muscle wasting disease, address the needs of only a small proportion of patients resulting in an urgent need for therapies that benefit all patients regardless of the underlying mutation. Myostatin is a member of the transforming growth factor-β (TGF-β) family of ligands and is a negative regulator of skeletal muscle mass. Loss of myostatin has been shown to increase muscle mass and improve muscle function in both normal and dystrophic mice...
November 9, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/29119933/pharmacological-and-non-pharmacological-therapies-of-cognitive-impairment-in-multiple-sclerosis
#13
Elzbieta Miller, Agnieszka Morel, Justyna Redlicka, Igor Miller, Joanna Saluk
Cognitive impairment is one of the most important clinical features of neurodegenerative disorders including multiple sclerosis (MS). Conducted research shows that up to 65 percent of MS patients have cognitive deficits such as episodic memory, sustained attention, reduced verbal fluency; however, the cognitive MS domain is information processing speed. It is the first syndrome of cognitive dysfunction and the most widely affected in MS. Occasionally these impairments occur even before the appearance of physical symptoms...
November 9, 2017: Current Neuropharmacology
https://www.readbyqxmd.com/read/29095865/beneficial-effects-of-high-dose-taurine-treatment-in-juvenile-dystrophic-mdx-mice-are-offset-by-growth-restriction
#14
Jessica R Terrill, Gavin J Pinniger, Keshav V Nair, Miranda D Grounds, Peter G Arthur
Duchenne Muscular Dystrophy (DMD) is a fatal muscle wasting disease manifested in young boys, for which there is no current cure. We have shown that the amino acid taurine is safe and effective at preventing dystropathology in the mdx mouse model for DMD. This study aimed to establish if treating growing mdx mice with a higher dose of taurine was more effective at improving strength and reducing inflammation and oxidative stress. Mice were treated with a dose of taurine estimated to be 16 g/kg/day, in drinking water from 1-6 weeks of age, after which in vivo and ex vivo muscle strength was assessed, as were measures of inflammation, oxidative stress and taurine metabolism...
2017: PloS One
https://www.readbyqxmd.com/read/29078808/treatment-with-the-anti-il-6-receptor-antibody-attenuates-muscular-dystrophy-via-promoting-skeletal-muscle-regeneration-in-dystrophin-utrophin-deficient-mice
#15
Eiji Wada, Jun Tanihata, Akira Iwamura, Shin'ichi Takeda, Yukiko K Hayashi, Ryoichi Matsuda
BACKGROUND: Chronic increases in the levels of the inflammatory cytokine interleukin-6 (IL-6) in serum and skeletal muscle are thought to contribute to the progression of muscular dystrophy. Dystrophin/utrophin double-knockout (dKO) mice develop a more severe and progressive muscular dystrophy than the mdx mice, the most common murine model of Duchenne muscular dystrophy (DMD). In particular, dKO mice have smaller body sizes and muscle diameters, and develop progressive kyphosis and fibrosis in skeletal and cardiac muscles...
October 27, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/29072171/effects-of-dietary-omega-3-on-dystrophic-cardiac-and-diaphragm-muscles-as-evaluated-by-1-h-magnetic-resonance-spectroscopy-metabolic-profile-and-calcium-related-proteins
#16
Adriana Fogagnolo Maurício, Samara Camaçari de Carvalho, Humberto Santo Neto, Maria Julia Marques
BACKGROUND & AIMS: Duchenne muscular dystrophy (DMD) is characterized by the absence of dystrophin and muscle degeneration. Calcium dysregulation and oxidative stress also contribute to the disease progression. We evaluated the potential therapeutic benefits of supplementation with omega-3 on the metabolic profile, calcium-related proteins and oxidative stress response in the heart and diaphragm (DIA) of the mdx mouse model of DMD at later stages of the disease (13 months). METHODS: Mdx mice (8 months old) received omega-3 via a dietary supplement for 5 months...
August 2017: Clinical Nutrition ESPEN
https://www.readbyqxmd.com/read/29067660/exon-skipping-therapy-using-phosphorodiamidate-morpholino-oligomers-in-the-mdx52-mouse-model-of-duchenne-muscular-dystrophy
#17
Shouta Miyatake, Yoshitaka Mizobe, Hotake Takizawa, Yuko Hara, Toshifumi Yokota, Shin'ichi Takeda, Yoshitsugu Aoki
Exon skipping therapy using synthetic DNA-like molecules called antisense oligonucleotides (ASOs) is a promising therapeutic candidate for overcoming the dystrophin mutation that causes Duchenne muscular dystrophy (DMD). This treatment involves splicing out the frame-disrupting segment of the dystrophin mRNA, which restores the reading frame and produces a truncated yet functional dystrophin protein. Phosphorodiamidate morpholino oligomer (PMO) is the safest ASO for patients among ASOs and has recently been approved under the accelerated approval pathway by the U...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29067652/an-overview-of-recent-therapeutics-advances-for-duchenne-muscular-dystrophy
#18
Jean K Mah
Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy in childhood. Mutations of the DMD gene destabilize the dystrophin associated glycoprotein complex in the sarcolemma. Ongoing mechanical stress leads to unregulated influx of calcium ions into the sarcoplasm, with activation of proteases, release of proinflammatory cytokines, and mitochondrial dysfunction. Cumulative damage and reparative failure leads to progressive muscle necrosis, fibrosis, and fatty replacement. Although there is presently no cure for DMD, scientific advances have led to many potential disease-modifying treatments, including dystrophin replacement therapies, upregulation of compensatory proteins, anti-inflammatory agents, and other cellular targets...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29065908/utrophin-influences-mitochondrial-pathology-and-oxidative-stress-in-dystrophic-muscle
#19
Tahnee L Kennedy, Lee Moir, Sarah Hemming, Ben Edwards, Sarah Squire, Kay Davies, Simon Guiraud
BACKGROUND: Duchenne muscular dystrophy (DMD) is a lethal X-linked muscle wasting disorder caused by the absence of dystrophin, a large cytoskeletal muscle protein. Increasing the levels of the dystrophin-related-protein utrophin is a highly promising therapy for DMD and has been shown to improve pathology in dystrophin-deficient mice. One contributing factor to muscle wasting in DMD is mitochondrial pathology that contributes to oxidative stress and propagates muscle damage. The purpose of this study was to assess whether utrophin could attenuate mitochondria pathology and oxidative stress...
October 24, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/28988850/biomarker-potential-of-extracellular-mirnas-in-duchenne-muscular-dystrophy
#20
REVIEW
Anna M L Coenen-Stass, Matthew J A Wood, Thomas C Roberts
miRNAs are small, noncoding RNAs that not only regulate gene expression within cells, but might also constitute promising extracellular biomarkers for a variety of pathologies, including the progressive muscle-wasting disorder Duchenne Muscular Dystrophy (DMD). A set of muscle-enriched miRNAs, the myomiRs (miR-1, miR-133, and miR-206) are highly elevated in the serum of patients with DMD and in dystrophin-deficient animal models. Furthermore, circulating myomiRs might be used as pharmacodynamic biomarkers, given that their levels can be restored towards wild-type levels following exon skipping therapy in dystrophic mice...
October 5, 2017: Trends in Molecular Medicine
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