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DMD gene therapy

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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/29242210/reversible-immortalisation-enables-genetic-correction-of-human-muscle-progenitors-and-engineering-of-next-generation-human-artificial-chromosomes-for-duchenne-muscular-dystrophy
#3
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
#4
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/29173172/therapeutic-applications-of-crispr-cas-for-duchenne-muscular-dystrophy
#5
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/29067660/exon-skipping-therapy-using-phosphorodiamidate-morpholino-oligomers-in-the-mdx52-mouse-model-of-duchenne-muscular-dystrophy
#6
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
#7
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/28988850/biomarker-potential-of-extracellular-mirnas-in-duchenne-muscular-dystrophy
#8
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
https://www.readbyqxmd.com/read/28972564/exonization-of-an-intronic-line-1-element-causing-becker-muscular-dystrophy-as-a-novel-mutational-mechanism-in-dystrophin-gene
#9
Ana Gonçalves, Jorge Oliveira, Teresa Coelho, Ricardo Taipa, Manuel Melo-Pires, Mário Sousa, Rosário Santos
A broad mutational spectrum in the dystrophin (DMD) gene, from large deletions/duplications to point mutations, causes Duchenne/Becker muscular dystrophy (D/BMD). Comprehensive genotyping is particularly relevant considering the mutation-centered therapies for dystrophinopathies. We report the genetic characterization of a patient with disease onset at age 13 years, elevated creatine kinase levels and reduced dystrophin labeling, where multiplex-ligation probe amplification (MLPA) and genomic sequencing failed to detect pathogenic variants...
October 3, 2017: Genes
https://www.readbyqxmd.com/read/28955176/changes-in-muscle-metabolism-are-associated-with-phenotypic-variability-in-golden-retriever-muscular-dystrophy%C3%A2-%C3%A2-%C3%A2
#10
Peter P Nghiem, Luca Bello, William B Stoughton, Sara Mata López, Alexander H Vidal, Briana V Hernandez, Katherine N Hulbert, Taylor R Gourley, Amanda K Bettis, Cynthia J Balog-Alvarez, Heather Heath-Barnett, Joe N Kornegay
Duchenne muscular dystrophy (DMD) is an X-chromosome-linked disorder and the most common monogenic disease in people. Affected boys are diagnosed at a young age, become non-ambulatory by their early teens, and succumb to cardiorespiratory failure by their thirties. Despite being a monogenic condition resulting from mutations in the DMD gene, affected boys have noteworthy phenotypic variability. Efforts have identified genetic modifiers that could modify disease progression and be pharmacologic targets. Dogs affected with golden retriever muscular dystrophy (GRMD) have absent dystrophin and demonstrate phenotypic variability at the functional, histopathological, and molecular level...
September 2017: Yale Journal of Biology and Medicine
https://www.readbyqxmd.com/read/28954035/preimplantation-genetic-diagnosis-associated-to-duchenne-muscular-dystrophy
#11
Bianca Bianco, Denise Maria Christofolini, Gabriel Seixas Conceição, Caio Parente Barbosa
Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic counseling to reduce the birth of such boys. We report a case of preimplantation genetic diagnosis associated with Duchenne muscular dystrophy. The couple E.P.R., 38-year-old, symptomatic patient heterozygous for a 2 to 47 exon deletion mutation in DMD gene and G...
September 21, 2017: Einstein
https://www.readbyqxmd.com/read/28899419/increased-plasma-lipid-levels-exacerbate-muscle-pathology-in-the-mdx-mouse-model-of-duchenne-muscular-dystrophy
#12
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/28859693/comprehensive-analysis-for-genetic-diagnosis-of-dystrophinopathies-in-japan
#13
Mariko Okubo, Kanako Goto, Hirofumi Komaki, Harumasa Nakamura, Madoka Mori-Yoshimura, Yukiko K Hayashi, Satomi Mitsuhashi, Satoru Noguchi, En Kimura, Ichizo Nishino
BACKGROUND: Duchenne muscular dystrophy (DMD) is the most common disease in children caused by mutations in the DMD gene, and DMD and Becker muscular dystrophy (BMD) are collectively called dystrophinopathies. Dystrophinopathies show a complex mutation spectrum. The importance of mutation databases, with clinical phenotypes and protein studies of patients, is increasingly recognized as a reference for genetic diagnosis and for the development of gene therapy. METHODS: We used the data from the Japanese Registry of Muscular Dystrophy (Remudy) compiled during from July 2009 to March 2017, and reviewed 1497 patients with dystrophinopathies...
August 31, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28798156/phosphodiesterase-4-inhibitor-and-phosphodiesterase-5-inhibitor-combination-therapy-has-antifibrotic-and-anti-inflammatory-effects-in-mdx-mice-with-duchenne-muscular-dystrophy
#14
Yasunori Nio, Masayuki Tanaka, Yoshihiko Hirozane, Yo Muraki, Mitsugi Okawara, Masatoshi Hazama, Takanori Matsuo
Duchenne muscular dystrophy (DMD) is the most common inherited muscular dystrophy. Patients experience DMD in their 20s from cardiac or respiratory failure related to progressive muscle wasting. Currently, the only treatments for the symptoms of DMD are available. Muscle fibrosis, a DMD feature, leads to reduced muscle function and muscle mass, and hampers pharmaceutical therapeutic efficacy. Although antifibrotic agents may be useful, none is currently approved. Phosphodiesterase (PDE)-4 inhibitors have exhibited antifibrotic effects in human and animal models...
August 10, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28793798/dual-aav-gene-therapy-for-duchenne-muscular-dystrophy-with-a-7-kb-mini-dystrophin-gene-in-the-canine-model
#15
Kasun Kodippili, Chady H Hakim, Xiufang Pan, Hsiao T Yang, Yongping Yue, Yadong Zhang, Jin-Hong Shin, N Nora Yang, Dongsheng Duan
Dual adeno-associated virus (AAV) technology was developed in 2000 to double the packaging capacity of the AAV vector. The proof of principle has been demonstrated in various mouse models. Yet, pivotal evidence is lacking in large animal models of human diseases. Here we report expression of a 7-kb canine ΔH2-R15 mini-dystrophin gene using a pair of dual AAV vectors in the canine model of Duchenne muscular dystrophy (DMD). The ΔH2-R15 minigene is by far the most potent synthetic dystrophin gene engineered for DMD gene therapy...
August 4, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28742067/long-term-microdystrophin-gene-therapy-is-effective-in-a-canine-model-of-duchenne-muscular-dystrophy
#16
Caroline Le Guiner, Laurent Servais, Marie Montus, Thibaut Larcher, Bodvaël Fraysse, Sophie Moullec, Marine Allais, Virginie François, Maeva Dutilleul, Alberto Malerba, Taeyoung Koo, Jean-Laurent Thibaut, Béatrice Matot, Marie Devaux, Johanne Le Duff, Jack-Yves Deschamps, Inès Barthelemy, Stéphane Blot, Isabelle Testault, Karim Wahbi, Stéphane Ederhy, Samia Martin, Philippe Veron, Christophe Georger, Takis Athanasopoulos, Carole Masurier, Federico Mingozzi, Pierre Carlier, Bernard Gjata, Jean-Yves Hogrel, Oumeya Adjali, Fulvio Mavilio, Thomas Voit, Philippe Moullier, George Dickson
Duchenne muscular dystrophy (DMD) is an incurable X-linked muscle-wasting disease caused by mutations in the dystrophin gene. Gene therapy using highly functional microdystrophin genes and recombinant adeno-associated virus (rAAV) vectors is an attractive strategy to treat DMD. Here we show that locoregional and systemic delivery of a rAAV2/8 vector expressing a canine microdystrophin (cMD1) is effective in restoring dystrophin expression and stabilizing clinical symptoms in studies performed on a total of 12 treated golden retriever muscular dystrophy (GRMD) dogs...
July 25, 2017: Nature Communications
https://www.readbyqxmd.com/read/28624206/crispr-cas9-mediated-genome-editing-corrects-dystrophin-mutation-in-skeletal-muscle-stem-cells-in-a-mouse-model-of-muscle-dystrophy
#17
Pei Zhu, Furen Wu, Jeffrey Mosenson, Hongmei Zhang, Tong-Chuan He, Wen-Shu Wu
Muscle stem cells (MuSCs) hold great therapeutic potential for muscle genetic disorders, such as Duchenne muscular dystrophy (DMD). The CRISP/Cas9-based genome editing is a promising technology for correcting genetic alterations in mutant genes. In this study, we used fibrin-gel culture system to selectively expand MuSCs from crude skeletal muscle cells of mdx mice, a mouse model of DMD. By CRISP/Cas9-based genome editing, we corrected the dystrophin mutation in expanded MuSCs and restored the skeletal muscle dystrophin expression upon transplantation in mdx mice...
June 16, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28623422/effects-of-omega-3-on-matrix-metalloproteinase-9-myoblast-transplantation-and-satellite-cell-activation-in-dystrophin-deficient-muscle-fibers
#18
Samara Camaçari de Carvalho, Sajedah M Hindi, Ashok Kumar, Maria Julia Marques
In Duchenne muscular dystrophy (DMD), lack of dystrophin leads to progressive muscle degeneration, with DMD patients suffering from cardiorespiratory failure. Cell therapy is an alternative to life-long corticoid therapy. Satellite cells, the stem cells of skeletal muscles, do not completely compensate for the muscle damage in dystrophic muscles. Elevated levels of proinflammatory and profibrotic factors, such as metalloproteinase 9 (MMP-9), impair muscle regeneration, leading to extensive fibrosis and poor results with myoblast transplantation therapies...
June 17, 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28607562/cellular-reprogramming-genome-editing-and-alternative-crispr-cas9-technologies-for-precise-gene-therapy-of-duchenne-muscular-dystrophy
#19
REVIEW
Peter Gee, Huaigeng Xu, Akitsu Hotta
In the past decade, the development of two innovative technologies, namely, induced pluripotent stem cells (iPSCs) and the CRISPR Cas9 system, has enabled researchers to model diseases derived from patient cells and precisely edit DNA sequences of interest, respectively. In particular, Duchenne muscular dystrophy (DMD) has been an exemplary monogenic disease model for combining these technologies to demonstrate that genome editing can correct genetic mutations in DMD patient-derived iPSCs. DMD is an X-linked genetic disorder caused by mutations that disrupt the open reading frame of the dystrophin gene, which plays a critical role in stabilizing muscle cells during contraction and relaxation...
2017: Stem Cells International
https://www.readbyqxmd.com/read/28566768/moving-towards-successful-exon-skipping-therapy-for-duchenne-muscular-dystrophy
#20
REVIEW
Akinori Nakamura
Duchenne muscular dystrophy (DMD) is an X chromosome-linked lethal muscular disorder with progressing muscle wasting and weakness caused by mutations in the gene encoding a subsarcolemmal protein dystrophin. For a long time, there was no effective cure; however, advances in molecular biology have allowed the development of radical treatment approaches. Among them, exon-skipping therapy using antisense oligonucleotides is very promising, because it corrects the reading frame of the dystrophin-encoding gene and restores protein expression, resulting in the conversion of DMD to a clinically milder form, Becker muscular dystrophy (BMD)...
October 2017: Journal of Human Genetics
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