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DMD gene therapy

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https://www.readbyqxmd.com/read/29790927/syntrophin-binds-directly-to-multiple-spectrin-like-repeats-in-dystrophin-and-mediates-binding-of-nnos-to-repeats-16-17
#1
Marvin E Adams, Guy L Odom, Min Jeong Kim, Jeffrey S Chamberlain, Stanley C Froehner
Mutation of the gene encoding dystrophin leads to Duchenne and Becker muscular dystrophy (DMD and BMD). Currently, dystrophin is thought to function primarily as a structural protein, connecting the muscle cell actin cytoskeleton to the extra-cellular matrix. In addition to this structural role, dystrophin also plays an important role as a scaffold that organizes an array of signaling proteins including sodium, potassium, and calcium channels, kinases, and nitric oxide synthase (nNOS). Many of these signaling proteins are linked to dystrophin via syntrophin, an adapter protein that is known to bind directly to two sites in the carboxyl terminal region of dystrophin...
May 22, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29783118/placenta-derived-mesenchymal-stromal-cells-and-their-exosomes-exert-therapeutic-effects-in-duchenne-muscular-dystrophy
#2
Ariel Bier, Peter Berenstein, Noam Kronfeld, Daria Morgoulis, Amotz Ziv-Av, Hodaya Goldstein, Gila Kazimirsky, Simona Cazacu, Rinat Meir, Rachela Popovtzer, Amir Dori, Chaya Brodie
Duchenne muscular dystrophy (DMD) is a degenerative lethal, X-linked disease of skeletal and cardiac muscles caused by mutations in the dystrophin gene. Cell therapy using different cell types, including mesenchymal stromal cells (MSCs), has been considered as a potential approach for the treatment of DMD. MSCs can be obtained from autologous sources such as bone marrow and adipose tissues or from allogeneic placenta and umbilical cord. The safety and therapeutic impact of these cells has been demonstrated in pre-clinical and clinical studies and their functions are attributed to paracrine effects that are mediated by secreted cytokines and extracellular vesicles...
May 3, 2018: Biomaterials
https://www.readbyqxmd.com/read/29783100/cd133-cells-derived-from-skeletal-muscles-of-duchenne-muscular-dystrophy-patients-have-a-compromised-myogenic-and-muscle-regenerative-capability
#3
Jinhong Meng, Francesco Muntoni, Jennifer Morgan
Cell-mediated gene therapy is a possible means to treat muscular dystrophies like Duchenne muscular dystrophy. Autologous patient stem cells can be genetically-corrected and transplanted back into the patient, without causing immunorejection problems. Regenerated muscle fibres derived from these cells will express the missing dystrophin protein, thus improving muscle function. CD133+ cells derived from normal human skeletal muscle contribute to regenerated muscle fibres and form muscle stem cells after their intra-muscular transplantation into an immunodeficient mouse model...
May 12, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29781327/the-progress-of-aav-mediated-gene-therapy-in-neuromuscular-disorders
#4
Sara Aguti, Alberto Malerba, Haiyan Zhou
The well-defined genetic causes and monogenetic nature of many neuromuscular disorders, including Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA), present gene therapy as a prominent therapeutic approach. The novel variants of adeno-associated virus (AAV) can achieve satisfactory transduction efficiency of exogenous genes through the central nervous system and body-wide in skeletal muscle. Areas covered: In this review, we summarize the strategies of AAV gene therapy that are currently under preclinical and clinical evaluation for the treatment of degenerative neuromuscular disorders, with a focus on diseases such as DMD and SMA...
May 20, 2018: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/29692797/combined-therapies-for-duchenne-muscular-dystrophy-to-optimize-treatment-efficacy
#5
REVIEW
Gonzalo Cordova, Elisa Negroni, Claudio Cabello-Verrugio, Vincent Mouly, Capucine Trollet
Duchene Muscular Dystrophy (DMD) is the most frequent muscular dystrophy and one of the most severe due to the absence of the dystrophin protein. Typical pathological features include muscle weakness, muscle wasting, degeneration, and inflammation. At advanced stages DMD muscles present exacerbated extracellular matrix and fat accumulation. Recent progress in therapeutic approaches has allowed new strategies to be investigated, including pharmacological, gene-based and cell-based therapies. Gene and cell-based therapies are still limited by poor targeting and low efficiency in fibrotic dystrophic muscle, therefore it is increasingly evident that future treatments will have to include "combined therapies" to reach maximal efficiency...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29579078/a-novel-high-throughput-immunofluorescence-analysis-method-for-quantifying-dystrophin-intensity-in-entire-transverse-sections-of-duchenne-muscular-dystrophy-muscle-biopsy-samples
#6
Valentina Sardone, Matthew Ellis, Silvia Torelli, Lucy Feng, Darren Chambers, Deborah Eastwood, Caroline Sewry, Rahul Phadke, Jennifer E Morgan, Francesco Muntoni
Clinical trials using strategies aimed at inducing dystrophin expression in Duchenne muscular dystrophy (DMD) are underway or at advanced planning stage, including splice switching antisense oligonucleotides (AON), drugs to induce read-through of nonsense mutations and viral mediated gene therapy. In all these strategies, different dystrophin proteins, often internally deleted, are produced, similar to those found in patients with the milder DMD allelic variant, Becker muscular dystrophy (BMD). The primary biological endpoint of these trials is to induce functional dystrophin expression...
2018: PloS One
https://www.readbyqxmd.com/read/29571923/prevalence-and-long-term-monitoring-of-humoral-immunity-against-adeno-associated-virus-in-duchenne-muscular-dystrophy-patients
#7
Christian Leborgne, Virginie Latournerie, Sylvie Boutin, Diana Desgue, Aliénor Quéré, Elodie Pignot, Fanny Collaud, Séverine Charles, Marcelo Simon Sola, Elisa Masat, Fabienne Jouen, Olivier Boyer, Carole Masurier, Federico Mingozzi, Philippe Veron
Adeno-associated virus (AAV) vectors are promising candidates for gene therapy and have been explored as gene delivery vehicles in the treatment of Duchenne Muscular Dystrophy (DMD). Recent studies showed compelling evidence of therapeutic efficacy in large animal models following the intravenous delivery of AAV vectors expressing truncated forms of dystrophin. However, to translate these results to humans, careful assessment of the prevalence of anti-AAV neutralizing antibodies (NAbs) is needed, as presence of preexisting NABs to AAV in serum have been associated with a drastic diminution of vector transduction...
March 16, 2018: Cellular Immunology
https://www.readbyqxmd.com/read/29546607/dystrophin-expressing-chimeric-dec-human-cells-provide-a-potential-therapy-for-duchenne-muscular-dystrophy
#8
Maria Siemionow, Joanna Cwykiel, Ahlke Heydemann, Jesus Garcia, Enza Marchese, Krzysztof Siemionow, Erzsebet Szilagyi
Duchenne Muscular Dystrophy (DMD) is a progressive and lethal disease caused by mutations of the dystrophin gene. Currently no cure exists. Stem cell therapies targeting DMD are challenged by limited engraftment and rejection despite the use of immunosuppression. There is an urgent need to introduce new stem cell-based therapies that exhibit low allogenic profiles and improved cell engraftment. In this proof-of-concept study, we develop and test a new human stem cell-based approach to increase engraftment, limit rejection, and restore dystrophin expression in the mdx/scid mouse model of DMD...
June 2018: Stem Cell Reviews
https://www.readbyqxmd.com/read/29535188/dystrophin-s-central-domain-forms-a-complex-filament-that-becomes-disorganized-by-in-frame-deletions
#9
Olivier Delalande, Anne-Elisabeth Molza, Raphael Dos Santos Morais, Angélique Chéron, Émeline Pollet, Céline Raguenes-Nicol, Christophe Tascon, Emmanuel Giudice, Marine Guilbaud, Aurélie Nicolas, Arnaud Bondon, France Leturcq, Nicolas Férey, Marc Baaden, Javier Perez, Pierre Roblin, France Piétri-Rouxel, Jean-François Hubert, Mirjam Czjzek, Elisabeth Le Rumeur
Dystrophin, encoded by the DMD gene, is critical for maintaining plasma membrane integrity during muscle contraction events. Mutations in the DMD gene disrupting the reading frame prevent dystrophin production and result in severe Duchenne muscular dystrophy (DMD); in-frame internal deletions allow production of partly functional internally deleted dystrophin and result in less severe Becker muscular dystrophy (BMD). Many known BMD deletions occur in dystrophin's central domain, generally considered to be a monotonous rod-shaped domain based on the knowledge of spectrin family proteins...
May 4, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29533090/genomics-and-cure-understanding-narratives-of-patients-with-duchenne-muscular-dystrophy-in-japan
#10
Masae Kato
Globally, genomics research is expected to enhance the health of patients with intractable diseases such as Duchenne muscular dystrophy (DMD). But how do patients perceive medical and scientific attempts at creating drugs and finding cure, and why? Since the 1990s, a number of clinical trials for patients of DMD have been organized. Among them are a gene therapy and exon skipping, and they indicate the possibility of finding therapies for DMD patients. Since 2011, Japanese medical institutions have been participating in Global Clinical Trials so that Japanese DMD patients can have access to them once developed...
April 2018: Anthropology & Medicine
https://www.readbyqxmd.com/read/29463117/micro-dystrophin-gene-therapy-goes-systemic-in-duchenne-muscular-dystrophy-patients
#11
Dongsheng Duan
Whole-body systemic gene therapy is likely the most effective way to reduce greatly the disease burden of Duchenne muscular dystrophy (DMD), an X-linked inherited muscle disease that leads to premature death in early adulthood. Genetically, DMD is due to null mutation of the dystrophin gene, one of the largest genes in the genome. Recent studies have shown highly promising improvements in animal models with intravascular delivery of the engineered micro-dystrophin gene by adeno-associated virus (AAV). Several human trials are now started to advance AAV micro-dystrophin therapy to DMD patients...
April 5, 2018: Human Gene Therapy
https://www.readbyqxmd.com/read/29443387/predictors-of-early-left-ventricular-systolic-dysfunction-in-duchenne-muscular-dystrophy-patients
#12
Raphael Henrique Déa Cirino, Rosana Herminia Scola, Renata Dal-Prá Ducci, Ana Cristina Camarozano Wermelinger, Claudia Suemi Kamoi Kay, Paulo José Lorenzoni, Lineu Cesar Werneck, Eliane Ribeiro Carmes, Claudio Leinig Pereira Da Cunha
INTRODUCTION: Early detection of left ventricular systolic dysfunction (LVSD) is important for therapeutic strategies for Duchenne muscular dystrophy (DMD) patients. We analyzed myocardial strain using echocardiography for early detection of LVSD and determined the predictors of early LVSD. METHODS: This investigation was a cross-sectional study of 40 DMD patients with normal left ventricular ejection fraction. Global longitudinal strain (GLS) was used to analyze subtle disturbances in longitudinal contraction of the myocardium...
February 14, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29386334/duchenne-muscular-dystrophy-genome-editing-gives-new-hope-for-treatment
#13
REVIEW
Vassili Crispi, Antonios Matsakas
Duchenne muscular dystrophy (DMD) is a progressive wasting disease of skeletal and cardiac muscles, representing one of the most common recessive fatal inherited genetic diseases with 1:3500-1:5000 in yearly incidence. It is caused by mutations in the DMD gene that encodes the membrane-associated dystrophin protein. Over the years, many have been the approaches to management of DMD, but despite all efforts, no effective treatment has yet been discovered. Hope for the development of potential therapeutics has followed the recent advances in genome editing and gene therapy...
May 2018: Postgraduate Medical Journal
https://www.readbyqxmd.com/read/29367538/breast-cancer-clinical-trial-of-chemotherapy-and-trastuzumab-potential-tool-to-identify-cardiac-modifying-variants-of-dilated-cardiomyopathy
#14
Daniel J Serie, Julia E Crook, Brian M Necela, Bianca C Axenfeld, Travis J Dockter, Gerardo Colon-Otero, Edith A Perez, E Aubrey Thompson, Nadine Norton
Doxorubicin and the ERBB2 targeted therapy, trastuzumab, are routinely used in the treatment of HER2+ breast cancer. In mouse models, doxorubicin is known to cause cardiomyopathy and conditional cardiac knock out of Erbb2 results in dilated cardiomyopathy and increased sensitivity to doxorubicin-induced cell death. In humans, these drugs also result in cardiac phenotypes, but severity and reversibility is highly variable. We examined the association of decline in left ventricular ejection fraction (LVEF) at 15,204 single nucleotide polymorphisms (SNPs) spanning 72 cardiomyopathy genes, in 800 breast cancer patients who received doxorubicin and trastuzumab...
May 4, 2017: Journal of Cardiovascular Development and Disease
https://www.readbyqxmd.com/read/29366352/gene-therapy-for-hemophilia-and-duchenne-muscular-dystrophy-in-china
#15
Xionghao Liu, Mujun Liu, Lingqian Wu, Desheng Liang
Gene therapy is a new technology that provides potential for curing monogenic diseases caused by mutations in a single gene. Hemophilia and Duchenne muscular dystrophy (DMD) are ideal target diseases of gene therapy. Important advances have been made in clinical trials, including studies of adeno-associated virus vectors in hemophilia and antisense in DMD. However, issues regarding the high doses of viral vectors required and limited delivery efficiency of antisense oligonucleotides have not yet been fully addressed...
February 2018: Human Gene Therapy
https://www.readbyqxmd.com/read/29351004/duchenne-muscular-dystrophy-an-updated-review-of-common-available-therapies
#16
Arash Salmaninejad, Saeed Farajzadeh Valilou, Hadi Bayat, Nader Ebadi, Abdolreza Daraei, Meysam Yousefi, Abolfazl Nesaei, Majid Mojarrad
BACKGROUND AND PURPOSE: 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 individuals 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...
February 5, 2018: International Journal of Neuroscience
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/29305755/creation-of-dystrophin-expressing-chimeric-cells-of-myoblast-origin-as-a-novel-stem-cell-based-therapy-for-duchenne-muscular-dystrophy
#18
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...
April 2018: Stem Cell Reviews
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
#19
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)...
February 2018: 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
#20
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 (DMDmdx ). To this aim, mice were randomly divided into five different experimental groups: wild type (WT), placebo-control (DMDmdx ), PBMT with doses of 1 J (DMDmdx ), 3 J (DMDmdx ), and 10 J (DMDmdx ). 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
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