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https://www.readbyqxmd.com/read/29023785/cns-synapses-are-stabilized-trans-synaptically-by-laminins-and-laminin-interacting-proteins
#1
Dale D Hunter, Mary K Manglapus, Galina Bachay, Thomas Claudepierre, Michael W Dolan, Kelly-Ann Gesuelli, William J Brunken
The retina expresses several laminins in the outer plexiform layer (OPL), where they may provide an extracellular scaffold for synapse stabilization. Mice with a targeted deletion of the laminin β2 gene (Lamb2) exhibit retinal disruptions: photoreceptor synapses in the OPL are disorganized and the retinal physiological response is attenuated. We hypothesize that laminins are required for proper trans-synaptic alignment. To test this, we compared the distribution, expression, association and modification of several pre- and post-synaptic elements in wild-type and Lamb2-null retinae...
October 12, 2017: Journal of Comparative Neurology
https://www.readbyqxmd.com/read/29019142/immunofluorescence-microscopy-for-dige-based-proteomics
#2
Rustam R Mundegar, Margit Zweyer, Dieter Swandulla
Alterations in the proteome of a tissue in different settings, as assessed by difference gel electrophoresis, can be verified for single proteins using immunohistochemistry. In fluorescence immunohistochemistry, an antibody to a particular antigen is applied to tissue sections, and fluorophores conjugated to a secondary antibody allow for the detection of target antigen with fluorescent microscopy. Visual comparison is sufficient for the detection of significant alterations in the abundance of a certain protein in different settings...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28989703/an-amphipathic-trans-acting-phosphorothioate-rna-element-delivers-an-uncharged-phosphorodiamidate-morpholino-sequence-in-mdx-mouse-myotubes
#3
H V Jain, J F Boehler, D Verthelyi, K Nagaraju, S L Beaucage
An efficient method for the delivery of uncharged polyA-tailed phosphorodiamidate morpholino sequences (PMO) in mammalian cells consists of employing a synthetic 8-mer amphipathic trans-acting poly-2'-O-methyluridylic thiophosphate triester element (2'-OMeUtaPS) as a transfection reagent. Unlike the dTtaPS DNA-based element, this RNA element is potent at delivering polyA-tailed PMO sequences to HeLa pLuc 705 cells or to myotube muscle cells. However, much like dTtaPS, the 2'-OMeUtaPS-mediated internalization of PMO sequences occurs through an energy-dependent mechanism; macropinocytosis appears to be the predominant endocytic pathway used for cellular uptake...
2017: RSC Advances
https://www.readbyqxmd.com/read/28988850/biomarker-potential-of-extracellular-mirnas-in-duchenne-muscular-dystrophy
#4
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/28987470/potential-therapeutic-impact-of-omega-3-long-chain-polyunsaturated-fatty-acids-on-inflammation-markers-in-duchenne-muscular-dystrophy-a-double-blind-controlled-randomized-trial
#5
Maricela Rodríguez-Cruz, Oriana Del Rocío Cruz-Guzmán, Tomás Almeida-Becerril, Alan Donovan Solís-Serna, Salvador Atilano-Miguel, Juan Raúl Sánchez-González, Lourdes Barbosa-Cortés, Eugenia Dolores Ruíz-Cruz, Juan Carlos Huicochea, Alan Cárdenas-Conejo, Rosa Elena Escobar-Cedillo, Carlos Alberto Yam-Ontiveros, Edgar F Ricárdez-Marcial
BACKGROUND & AIMS: Duchenne Muscular Dystrophy (DMD) is the most frequent dystrophy in childhood generated by a deficiency in dystrophin. DMD is a neuromuscular disease and its clinical course comprises chronic inflammation and gradual muscle weakness. Supplementation of omega-3 long chain-Polyunsaturated Fatty Acids (ω-3 long chain-PUFA) reduces inflammatory markers in various disorders. The goal of this research was to analyze the influence of ω-3 long chain-PUFA intake on gene expression and blood inflammatory markers in boys with DMD...
September 23, 2017: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/28981144/screening-for-duchenne-muscular-dystrophy-in-germany-1977-2011-a-personal-story
#6
Günter Scheuerbrandt
This report is about screening 528,410 mostly 4-6 weeks old boys in Germany between 1977 and 2011 for high levels of creatine kinase (CK) to detect those with Duchenne and Becker muscular dystrophy (DMD, BMD). During these 34 years of infant screening, 147 boys with confirmed, probable and possible Duchenne dystrophy (incidence 1:3,600 male births) and 33 with confirmed, probable and possible Becker dystrophy (incidence 1:15,500 male births) were found. Research reports about DMD were sent to families and pediatricians participating in the screening, and on request to families and scientists everywhere...
October 5, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28974727/timing-and-localization-of-human-dystrophin-isoform-expression-provide-insights-into-the-cognitive-phenotype-of-duchenne-muscular-dystrophy
#7
Nathalie Doorenweerd, Ahmed Mahfouz, Maaike van Putten, Rajaram Kaliyaperumal, Peter A C T' Hoen, Jos G M Hendriksen, Annemieke M Aartsma-Rus, Jan J G M Verschuuren, Erik H Niks, Marcel J T Reinders, Hermien E Kan, Boudewijn P F Lelieveldt
Duchenne muscular dystrophy (DMD) is a muscular dystrophy with high incidence of learning and behavioural problems and is associated with neurodevelopmental disorders. To gain more insights into the role of dystrophin in this cognitive phenotype, we performed a comprehensive analysis of the expression patterns of dystrophin isoforms across human brain development, using unique transcriptomic data from Allen Human Brain and BrainSpan atlases. Dystrophin isoforms show large changes in expression through life with pronounced differences between the foetal and adult human brain...
October 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28974147/duchenne-and-becker-muscular-dystrophies-a-review-of-animal-models-clinical-end-points-and-biomarker-quantification
#8
Kristin Wilson, Crystal Faelan, Janet C Patterson-Kane, Daniel G Rudmann, Steven A Moore, Diane Frank, Jay Charleston, Jon Tinsley, G David Young, Anthony J Milici
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are neuromuscular disorders that primarily affect boys due to an X-linked mutation in the DMD gene, resulting in reduced to near absence of dystrophin or expression of truncated forms of dystrophin. Some newer therapeutic interventions aim to increase sarcolemmal dystrophin expression, and accurate dystrophin quantification is critical for demonstrating pharmacodynamic relationships in preclinical studies and clinical trials. Current challenges with measuring dystrophin include the variation in protein expression within individual muscle fibers and across whole muscle samples, the presence of preexisting dystrophin-positive revertant fibers, and trace amounts of residual dystrophin...
January 1, 2017: Toxicologic Pathology
https://www.readbyqxmd.com/read/28974057/dystrophin-dp116-a-yet-to-be-investigated-product-of-the-duchenne-muscular-dystrophy-gene
#9
REVIEW
Masafumi Matsuo, Hiroyuki Awano, Masaaki Matsumoto, Masashi Nagai, Tatsuya Kawaguchi, Zhujun Zhang, Hisahide Nishio
The Duchenne muscular dystrophy (DMD) gene is one of the largest genes in the human genome. The gene exhibits a complex arrangement of seven alternative promoters, which drive the expression of three full length and four shorter isoforms. Dp116, the second smallest product of the DMD gene, is a Schwann cell-specific isoform encoded by a transcript corresponding to DMD exons 56-79, starting from a promoter/exon S1 within intron 55. The physiological roles of Dp116 are poorly understood, because of its extensive homology with other isoforms and its expression in specific tissues...
October 2, 2017: Genes
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
#10
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/28963182/gene-editing-for-the-heart-correcting-dystrophin-mutations
#11
EDITORIAL
Elizabeth M McNally
No abstract text is available yet for this article.
September 29, 2017: Circulation Research
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
#12
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/28951602/chemotherapeutics-overcoming-nonsense-mutation-associated-genetic-diseases-medicinal-chemistry-of-negamycin
#13
REVIEW
Akihiro Taguchi, Keisuke Hamada, Yoshio Hayashi
Nonsense mutations caused by the presence of an in-frame premature termination codon (PTC) account for ~10% of gene lesions that together cause over 1800 inherited human diseases. One approach to treating genetic diseases that stem from PTCs is selective promotion of translational readthrough in a PTC using 'readthrough compounds' that can lead to partial restoration of full-length functional protein expression. (+)-Negamycin, a natural dipeptide-like antibiotic, may restore some dystrophin expression in the skeletal muscles of mice with Duchenne muscular dystrophy, and this compound has been recognized as a potential therapeutic agent for diseases caused by nonsense mutations...
September 27, 2017: Journal of Antibiotics
https://www.readbyqxmd.com/read/28937030/a-de-novo-mutation-in-dystrophin-causing-muscular-dystrophy-in-a-female-patient
#14
Hao Yu, Yu-Chao Chen, Gong-Lu Liu, Zhi-Ying Wu
BACKGROUND: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive neuromuscular diseases resulting from dystrophin (DMD) gene mutations. It has been known that the carrier of DMD mutations may also have symptoms of the disease. While de novo mutation is quite common in BMD/DMD patients, it is rarely reported in the female carriers. METHODS: Two sporadic Chinese patients with progressive muscular dystrophy and their familial members were recruited...
October 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28935143/vitamin-e-treatment-decreases-muscle-injury-in-mdx-mice
#15
Rafael Dias Mâncio, Túlio de Almeida Hermes, Aline Barbosa Macedo, Daniela Sayuri Mizobuti, Amanda Harduim Valduga, Ian Feller Rupcic, Elaine Minatel
OBJECTIVE: Oxidative stress, in addition to the absence of the dystrophin protein, has been considered an important regulator of Duchenne muscular dystrophy (DMD). Vitamin E presents an important role as a potent antioxidant and in preserving the integrity of the cell membrane. In this study, we evaluated the effects of vitamin E therapy on some physiological pathways that can contribute to muscle injury in the diaphragm muscle of mdx mice (the experimental model of DMD) such as CK levels, inflammatory response, oxidative stress, and the enzymatic antioxidant system...
November 2017: Nutrition
https://www.readbyqxmd.com/read/28932757/a-five-repeat-micro-dystrophin-gene-ameliorated-dystrophic-phenotype-in-the-severe-dba-2j-mdx-model-of-duchenne-muscular-dystrophy
#16
Chady H Hakim, Nalinda B Wasala, Xiufang Pan, Kasun Kodippili, Yongping Yue, Keqing Zhang, Gang Yao, Brittney Haffner, Sean X Duan, Julian Ramos, Joel S Schneider, N Nora Yang, Jeffrey S Chamberlain, Dongsheng Duan
Micro-dystrophins are highly promising candidates for treating Duchenne muscular dystrophy, a lethal muscle disease caused by dystrophin deficiency. Here, we report robust disease rescue in the severe DBA/2J-mdx model with a neuronal nitric oxide synthase (nNOS)-binding micro-dystrophin vector. 2 × 10(13) vector genome particles/mouse of the vector were delivered intravenously to 10-week-old mice and were evaluated at 6 months of age. Saturated micro-dystrophin expression was detected in all skeletal muscles and the heart and restored the dystrophin-associated glycoprotein complex and nNOS...
September 15, 2017: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/28931764/functional-correction-of-dystrophin-actin-binding-domain-mutations-by-genome-editing
#17
Viktoriia Kyrychenko, Sergii Kyrychenko, Malte Tiburcy, John M Shelton, Chengzu Long, Jay W Schneider, Wolfram-Hubertus Zimmermann, Rhonda Bassel-Duby, Eric N Olson
Dystrophin maintains the integrity of striated muscles by linking the actin cytoskeleton with the cell membrane. Duchenne muscular dystrophy (DMD) is caused by mutations in the dystrophin gene (DMD) that result in progressive, debilitating muscle weakness, cardiomyopathy, and a shortened lifespan. Mutations of dystrophin that disrupt the amino-terminal actin-binding domain 1 (ABD-1), encoded by exons 2-8, represent the second-most common cause of DMD. In the present study, we compared three different strategies for CRISPR/Cas9 genome editing to correct mutations in the ABD-1 region of the DMD gene by deleting exons 3-9, 6-9, or 7-11 in human induced pluripotent stem cells (iPSCs) and by assessing the function of iPSC-derived cardiomyocytes...
September 21, 2017: JCI Insight
https://www.readbyqxmd.com/read/28920716/transposons-moving-forward-from-preclinical-studies-to-clinical-trials
#18
Jaitip Tipanee, Thierry VandenDriessche, Marinee K Chuah
Transposons have emerged as promising vectors for gene therapy that can potentially overcome some of the limitations of commonly used viral vectors. Transposons stably integrate into the target cell genome, enabling persistent expression of therapeutic genes. Transposons have evolved from being used as basic tools in biomedical research to bona fide therapeutics. Currently, the most promising transposons for gene therapy applications are derived from Sleeping Beauty (SB) or piggyBac (PB). Stable transposition requires co-delivery of the transposon DNA with the corresponding transposase gene, mRNA, or protein...
August 22, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28918017/efficacy-and-safety-profile-of-tricyclo-dna-antisense-oligonucleotides-in-duchenne-muscular-dystrophy-mouse-model
#19
Karima Relizani, Graziella Griffith, Lucía Echevarría, Faouzi Zarrouki, Patricia Facchinetti, Cyrille Vaillend, Christian Leumann, Luis Garcia, Aurélie Goyenvalle
Antisense oligonucleotides (AONs) hold promise for therapeutic splice-switching correction in many genetic diseases. However, despite advances in AON chemistry and design, systemic use of AONs is limited due to poor tissue uptake and sufficient therapeutic efficacy is still difficult to achieve. A novel class of AONs made of tricyclo-DNA (tcDNA) is considered very promising for the treatment of Duchenne muscular dystrophy (DMD), a neuromuscular disease typically caused by frameshifting deletions or nonsense mutations in the gene-encoding dystrophin and characterized by progressive muscle weakness, cardiomyopathy, and respiratory failure in addition to cognitive impairment...
September 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28899419/increased-plasma-lipid-levels-exacerbate-muscle-pathology-in-the-mdx-mouse-model-of-duchenne-muscular-dystrophy
#20
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
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