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https://www.readbyqxmd.com/read/28444133/increased-collagen-within-the-transverse-tubules-in-human-heart-failure
#1
David J Crossman, Xin Shen, Mia Jüllig, Michelle Munro, Yufeng Hou, Martin Middleditch, Darshan Shrestha, Amy Li, Sean Lal, Cristobal G Dos Remedios, David Baddeley, Peter N Ruygrok, Christian Soeller
Aims: In heart failure transverse-tubule (t-tubule) remodelling disrupts calcium release, and contraction. T-tubules in human failing hearts exhibit increased labelling by wheat germ agglutinin (WGA), a lectin that binds to the dystrophin-associated glycoprotein complex. We hypothesized changes in this complex may explain the increased WGA labelling and contribute to t-tubule remodelling in the failing human heart. In this study we sought to identify the molecules responsible for this increased WGA labelling...
April 20, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28443334/the-n-terminal-flanking-region-modulates-the-actin-binding-affinity-of-utrophin-tandem-calponin-homology-domain
#2
Surinder M Singh, Swati Bandi, Krishna M G Mallela
Despite sharing high sequence similarity, tandem calponin-homology (CH) domain of utrophin binds to actin 30 times stronger than that of dystrophin. We have previously shown that this difference in actin binding affinity could not be accounted by the differences in inter-CH-domain linkers (Bandi et al., Biochemistry, 54 (2015) 5480-5488). Here, we examined the role of the N-terminal flanking region. Utrophin tandem CH domain contains a 27-residue flanking region before its CH1 domain. We examined its effect by comparing the structure and function of full-length utrophin tandem CH domain Utr(1-261) and its truncated construct Utr(28-261)...
April 26, 2017: Biochemistry
https://www.readbyqxmd.com/read/28440464/proteomic-profiling-of-mdx-4cv-serum-reveals-highly-elevated-levels-of-the-inflammation-induced-plasma-marker-haptoglobin-in-muscular-dystrophy
#3
Sandra Murphy, Paul Dowling, Margit Zweyer, Michael Henry, Paula Meleady, Rustam R Mundegar, Dieter Swandulla, Kay Ohlendieck
X-linked muscular dystrophy is caused by primary abnormalities in the Dmd gene and is characterized by the almost complete loss of the membrane cytoskeletal protein dystrophin, which triggers sarcolemmal instability, abnormal calcium homeostasis, increased proteolysis and impaired excitation‑contraction coupling. In addition to progressive necrosis, crucial secondary pathologies are represented by myofibrosis and the invasion of immune cells in damaged muscle fibres. In order to determine whether these substantial changes within the skeletal musculature are reflected by an altered rate of protein release into the circulatory system or other plasma fluctuations, we used label‑free mass spectrometry to characterize serum from the mdx‑4cv model of Duchenne muscular dystrophy...
April 18, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28439558/crispr-cpf1-correction-of-muscular-dystrophy-mutations-in-human-cardiomyocytes-and-mice
#4
Yu Zhang, Chengzu Long, Hui Li, John R McAnally, Kedryn K Baskin, John M Shelton, Rhonda Bassel-Duby, Eric N Olson
Duchenne muscular dystrophy (DMD), caused by mutations in the X-linked dystrophin gene (DMD), is characterized by fatal degeneration of striated muscles. Dilated cardiomyopathy is one of the most common lethal features of the disease. We deployed Cpf1, a unique class 2 CRISPR (clustered regularly interspaced short palindromic repeats) effector, to correct DMD mutations in patient-derived induced pluripotent stem cells (iPSCs) and mdx mice, an animal model of DMD. Cpf1-mediated genomic editing of human iPSCs, either by skipping of an out-of-frame DMD exon or by correcting a nonsense mutation, restored dystrophin expression after differentiation to cardiomyocytes and enhanced contractile function...
April 2017: Science Advances
https://www.readbyqxmd.com/read/28436144/unacylated-ghrelin-enhances-satellite-cell-function-and-relieves-the-dystrophic-phenotype-in-duchenne-muscular-dystrophy-mdx-model
#5
Simone Reano, Elia Angelino, Michele Ferrara, Valeria Malacarne, Hana Sustova, Omar Sabry, Emanuela Agosti, Sara Clerici, Giulia Ruozi, Lorena Zentilin, Flavia Prodam, Stefano Geuna, Mauro Giacca, Andrea Graziani, Nicoletta Filigheddu
Muscle regeneration depends on satellite cells, quiescent precursors that, in consequence of injury or in pathological states such as muscular dystrophies, activate, proliferate, and differentiate to repair the damaged tissue. A subset of satellite cells undergoes self-renewal, thus preserving the satellite cell pool and its regenerative potential. Unacylated ghrelin (UnAG) is a circulating hormone that protects muscle from atrophy, promotes myoblast differentiation, and enhances ischemia-induced muscle regeneration...
April 24, 2017: Stem Cells
https://www.readbyqxmd.com/read/28434908/duchenne-muscular-dystrophy-in-a-female-with-compound-heterozygous-contiguous-exon-deletions
#6
Eri Takeshita, Narihiro Minami, Kumiko Minami, Mikiya Suzuki, Takeya Awashima, Akihiko Ishiyama, Hirofumi Komaki, Ichizo Nishino, Masayuki Sasaki
Females with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) mutations rarely exhibit clinical symptoms from childhood, although potential mechanisms for symptoms associated with DMD and BMD in females have been reported. We report the case of a female DMD patient with a clinical course indistinguishable from that of a male DMD patient, and who possessed compound heterozygous contiguous exon deletions in the dystrophin gene. She exhibited Gowers' sign, calf muscle hypertrophy, and a high serum creatine kinase level at 2 years...
April 3, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28427100/dystrophinopathies-and-limb-girdle-muscular-dystrophies
#7
Joana Domingos, Anna Sarkozy, Mariacristina Scoto, Francesco Muntoni
Muscular dystrophies are a heterogeneous group of inherited diseases. The natural history of these disorders along with their management have changed mainly due to a better understanding of their pathophysiology, the evolution of standards of care, and new treatment options. Dystrophinopathies include both Duchenne's and Becker's muscular dystrophies, but in reality they are a spectrum of muscle diseases caused by mutations in the gene that encodes the protein dystrophin. Duchenne's muscular dystrophy is the most common form of inherited muscle disease of childhood...
April 20, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28416280/progress-toward-gene-therapy-for-duchenne-muscular-dystrophy
#8
REVIEW
Joel R Chamberlain, Jeffrey S Chamberlain
Duchenne muscular dystrophy (DMD) has been a major target for gene therapy development for nearly 30 years. DMD is among the most common genetic diseases, and isolation of the defective gene (DMD, or dystrophin) was a landmark discovery, as it was the first time a human disease gene had been cloned without knowledge of the protein product. Despite tremendous obstacles, including the enormous size of the gene and the large volume of muscle tissue in the human body, efforts to devise a treatment based on gene replacement have advanced steadily through the combined efforts of dozens of labs and patient advocacy groups...
April 14, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28406175/nkx2-5-and-sarcospan-genetically-interact-in-the-development-of-the-muscular-ventricular-septum-of-the-heart
#9
Adam A Panzer, Suk D Regmi, DePorres Cormier, Megan T Danzo, Iuan-Bor D Chen, Julia B Winston, Alayna K Hutchinson, Diana Salm, Claire E Schulkey, Rebecca S Cochran, David B Wilson, Patrick Y Jay
The muscular ventricular septum separates the flow of oxygenated and de-oxygenated blood in air-breathing vertebrates. Defects within it, termed muscular ventricular septal defects (VSDs), are common, yet less is known about how they arise than rarer heart defects. Mutations of the cardiac transcription factor NKX2-5 cause cardiac malformations, including muscular VSDs. We describe here a genetic interaction between Nkx2-5 and Sarcospan (Sspn) that affects the risk of muscular VSD in mice. Sspn encodes a protein in the dystrophin-glycoprotein complex...
April 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28401079/mutation-in-%C3%AE-sg-gene-in-familial-dilated-cardiomyopathy
#10
Marzieh Asadi, Roger Foo, Ahmad Reza Salehi, Rasoul Salehi, Mohammad Reza Samienasab
BACKGROUND: Mutations in different genes including dystrophin-associated glycoprotein complex caused familial dilated cardiomyopathy which is a genetically heterogeneous disease. The δ-SG gene contains nine exons spanning a 433-kb region of genomic DNA. It encodes a 35-kDa, singlepass, and type II transmembrane glycoprotein. MATERIALS AND METHODS: In this study for the first time in Iran we screened 6 patients of a large family that they had positive family history of MI or sudden death by next generation sequencing method...
2017: Advanced Biomedical Research
https://www.readbyqxmd.com/read/28398005/nanotherapy-for-duchenne-muscular-dystrophy
#11
REVIEW
Michael E Nance, Chady H Hakim, N Nora Yang, Dongsheng Duan
Duchenne muscular dystrophy (DMD) is a lethal X-linked childhood muscle wasting disease caused by mutations in the dystrophin gene. Nanobiotechnology-based therapies (such as synthetic nanoparticles and naturally existing viral and nonviral nanoparticles) hold great promise to replace and repair the mutated dystrophin gene and significantly change the disease course. While a majority of DMD nanotherapies are still in early preclinical development, several [such as adeno-associated virus (AAV)-mediated systemic micro-dystrophin gene therapy] are advancing for phase I clinical trials...
April 11, 2017: Wiley Interdisciplinary Reviews. Nanomedicine and Nanobiotechnology
https://www.readbyqxmd.com/read/28395534/application-of-the-international-classification-of-functioning-disability-and-health-system-to-symptoms-of-the-duchenne-and-becker-muscular-dystrophies
#12
Kristin M Conway, Emma Ciafaloni, Dennis Matthews, Chris Westfield, Kathy James, Pangaja Paramsothy, Paul A Romitti
PURPOSE: Duchenne and Becker muscular dystrophies, collectively referred to as dystrophinopathies, are X-linked recessive diseases that affect dystrophin production resulting in compromised muscle function across multiple systems. The International Classification of Functioning, Disability and Health provides a systematic classification scheme from which body functions affected by a dystrophinopathy can be identified and used to examine functional health. MATERIALS AND METHODS: The infrastructure of the Muscular Dystrophy Surveillance, Tracking, and Research Network was used to identify commonly affected body functions and link selected functions to clinical surveillance data collected through medical record abstraction...
April 11, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28392227/assessing-mental-health-in-boys-with-duchenne-muscular-dystrophy-emotional-behavioural-and-neurodevelopmental-profile-in-an-italian-clinical-sample
#13
Paola Colombo, Maria Nobile, Alessandra Tesei, Federica Civati, Sandra Gandossini, Elisa Mani, Massimo Molteni, Nereo Bresolin, Grazia D'Angelo
OBJECTIVE: To evaluate through a comprehensive protocol, the psychopathological profile of DMD boys. The primary aim of this observational study was to describe the emotional and behavioural profile and the neurodevelopmental problems of Italian boys with Duchenne Muscular Dystrophy (DMD); the secondary aim was to explore the relation between psychopathological profile and DMD genotype. METHOD: 47 DMD boys, aged 2-18, were included in the study and assessed through structured and validated tools including Wechsler scales or Griffiths for cognitive ability, Child Behavior Check List (CBCL), Youth Self Report (YSR) and Strengths and Difficulties Questionnaire (SDQ) for emotional and behavioural features...
March 24, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28391962/su9516-increases-%C3%AE-7%C3%AE-1-integrin-and-ameliorates-disease-progression-in-the-mdx-mouse-model-of-duchenne-muscular-dystrophy
#14
Apurva Sarathy, Ryan D Wuebbles, Tatiana M Fontelonga, Ashley R Tarchione, Lesley A Mathews Griner, Dante J Heredia, Andreia M Nunes, Suzann Duan, Paul D Brewer, Tyler Van Ry, Grant W Hennig, Thomas W Gould, Andrés E Dulcey, Amy Wang, Xin Xu, Catherine Z Chen, Xin Hu, Wei Zheng, Noel Southall, Marc Ferrer, Juan Marugan, Dean J Burkin
Duchenne muscular dystrophy (DMD) is a fatal muscle disease caused by mutations in the dystrophin gene, resulting in a complete loss of the dystrophin protein. Dystrophin is a critical component of the dystrophin glycoprotein complex (DGC), which links laminin in the extracellular matrix to the actin cytoskeleton within myofibers and provides resistance to shear stresses during muscle activity. Loss of dystrophin in DMD patients results in a fragile sarcolemma prone to contraction-induced muscle damage. The α7β1 integrin is a laminin receptor protein complex in skeletal and cardiac muscle and a major modifier of disease progression in DMD...
April 5, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28390761/the-aav-mediated-and-rna-guided-crispr-cas9-system-for-gene-therapy-of-dmd-and-bmd
#15
REVIEW
Jing-Zhang Wang, Peng Wu, Zhi-Min Shi, Yan-Li Xu, Zhi-Jun Liu
Mutations in the dystrophin gene (Dmd) result in Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), which afflict many newborn boys. In 2016, Brain and Development published several interesting articles on DMD treatment with antisense oligonucleotide, kinase inhibitor, and prednisolone. Even more strikingly, three articles in the issue 6271 of Science in 2016 provide new insights into gene therapy of DMD and BMD via the clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9)...
April 5, 2017: Brain & Development
https://www.readbyqxmd.com/read/28390424/grmd-cardiac-and-skeletal-muscle-metabolism-gene-profiles-are-distinct
#16
Larry W Markham, Candice L Brinkmeyer-Langford, Jonathan H Soslow, Manisha Gupte, Douglas B Sawyer, Joe N Kornegay, Cristi L Galindo
BACKGROUND: Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene, which codes for the dystrophin protein. While progress has been made in defining the molecular basis and pathogenesis of DMD, major gaps remain in understanding mechanisms that contribute to the marked delay in cardiac compared to skeletal muscle dysfunction. METHODS: To address this question, we analyzed cardiac and skeletal muscle tissue microarrays from golden retriever muscular dystrophy (GRMD) dogs, a genetically and clinically homologous model for DMD...
April 8, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28373570/effects-of-systemic-multiexon-skipping-with-peptide-conjugated-morpholinos-in-the-heart-of-a-dog-model-of-duchenne-muscular-dystrophy
#17
Yusuke Echigoya, Akinori Nakamura, Tetsuya Nagata, Nobuyuki Urasawa, Kenji Rowel Q Lim, Nhu Trieu, Dharminder Panesar, Mutsuki Kuraoka, Hong M Moulton, Takashi Saito, Yoshitsugu Aoki, Patrick Iversen, Peter Sazani, Ryszard Kole, Rika Maruyama, Terry Partridge, Shin'ichi Takeda, Toshifumi Yokota
Duchenne muscular dystrophy (DMD) is a lethal genetic disorder caused by an absence of the dystrophin protein in bodywide muscles, including the heart. Cardiomyopathy is a leading cause of death in DMD. Exon skipping via synthetic phosphorodiamidate morpholino oligomers (PMOs) represents one of the most promising therapeutic options, yet PMOs have shown very little efficacy in cardiac muscle. To increase therapeutic potency in cardiac muscle, we tested a next-generation morpholino: arginine-rich, cell-penetrating peptide-conjugated PMOs (PPMOs) in the canine X-linked muscular dystrophy in Japan (CXMDJ) dog model of DMD...
April 18, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28364229/invention-and-early-history-of-morpholinos-from-pipe-dream-to-practical-products
#18
James E Summerton
Beginning with my concept in 1969 to treat disease at the nucleic acid level using antisense nucleic acids, antisense has evolved to the current Morpholino oligos. Morpholinos have been the dominant gene knockdown system in developmental biology. Lack of delivery technologies has limited their use in adult animals (including humans), though alteration in muscles in Duchenne muscular dystrophy (DMD) allows delivery into adult muscle. Morpholinos are currently in Phase 3 clinical trials for DMD and a Morpholino oligo for skipping dystrophin exon 51 has been approved by the US FDA...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28364093/spatial-distribution-and-molecular-dynamics-of-dystrophin-glycoprotein-components-at-the-neuromuscular-junction-in-vivo
#19
Mohamed Aittaleb, Isabel Martinez-Pena Y Valenzuela, Mohammed Akaaboune
Bimolecular fluorescence complementation (BiFC) approach was used to study the molecular interactions between different components of the postsynaptic protein complex at the neuromuscular junction of living mice. Here, we showed that rapsyn forms complex with both α-dystrobrevin and α-syntrophin at the crests of junctional folds. The linkage of rapsyn to α-syntrophin and/or α-dystrobrevin is mediated by utrophin, a protein localized at AChR-rich domain. In mice deficient in α-syntrophin, in which utrophin is no longer present at the synapse, rapsyn interaction with α- dystrobrevin was completely abolished...
March 31, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28344992/mechanism-of-deletion-removing-all-dystrophin-exons-in-a-canine-model-for-dmd-implicates-concerted-evolution-of-x-chromosome-pseudogenes
#20
D Jake VanBelzen, Alock S Malik, Paula S Henthorn, Joe N Kornegay, Hansell H Stedman
Duchenne muscular dystrophy (DMD) is a lethal, X-linked, muscle-wasting disorder caused by mutations in the large, 2.4-Mb dystrophin gene. The majority of DMD-causing mutations are sporadic, multi-exon, frameshifting deletions, with the potential for variable immunological tolerance to the dystrophin protein from patient to patient. While systemic gene therapy holds promise in the treatment of DMD, immune responses to vectors and transgenes must first be rigorously evaluated in informative preclinical models to ensure patient safety...
March 17, 2017: Molecular Therapy. Methods & Clinical Development
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