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D'anna M Nelson, Angus Lindsay, Luke M Judge, Dongsheng Duan, Jeffrey S Chamberlain, Dawn A Lowe, James M Ervasti
No abstract text is available yet for this article.
June 12, 2018: Human Molecular Genetics
Jin Tang, Xueqin Song, Guang Ji, Hongran Wu, Shuyan Sun, Shan Lu, Yuan Li, Chi Zhang, Huiqing Zhang
This study was aimed to detect a new mutation responsible for X-linked dilated cardiomyopathy with hyper-CKemia.We studied a proband who presented with cardiac symptoms with hyper-CKemia, but no clinical skeletal involvement in physical examination, laboratory tests, electromyography, echocardiography, and magnetic resonance imaging (MRI) of cardiac muscles. Muscle biopsy for histopathology and immunohistochemistry for accessing sarcolemma changes. The next-generation sequencing and bioinformatics analysis were performed on the patient and Sanger sequencing was confirmed on the other 6 unaffected families...
June 2018: Medicine (Baltimore)
Tania Gamberi, Tania Fiaschi, Elisa Valocchia, Alessandra Modesti, Paola Mantuano, Jean-Francois Rolland, Francesca Sanarica, Annamaria De Luca, Francesca Magherini
Here we present original data related to the research paper entitled "Proteome analysis in dystrophic mdx mouse muscle reveals a drastic alteration of Key Metabolic and Contractile Proteins after chronic exercise and the potential modulation by anti-oxidant compounds" (Gamberi et al., 2018) [1]. The dystrophin-deficient mdx mouse is the most common animal model for Duchenne muscular dystrophy. The mdx mice phenotype of the disorder is milder than in human sufferers and it can be worsened by chronic treadmill exercise...
June 2018: Data in Brief
Andrea Paolini, Saleh Omairi, Robert Mitchell, Danielle Vaughan, Antonios Matsakas, Sakthivel Vaiyapuri, Thomas Ricketts, David C Rubinsztein, Ketan Patel
Autophagy has been implicated as a major factor in the development of a number of diseases of skeletal muscle. However, its role in skeletal muscle homeostasis is still evolving. We examined skeletal muscle architecture in a mouse model, Atg16L1, where autophagy is attenuated but importantly still present. We show that muscle fibres from Atg16L1 mice were smaller than wild-type counterparts, proving a role for this process in the growth of these cells. We show that mild attenuation of autophagy results in accelerated muscle loss during the initial phase of acute starvation...
June 13, 2018: Scientific Reports
Romain Helleringer, Delphine Le Verger, Xia Li, Charlotte Izabelle, Rémi Chaussenot, Mehdi Belmaati-Cherkaoui, Raoudha Dammak, Paulette Decottignies, Hervé Daniel, Micaela Galante, Cyrille Vaillend
A recent focus has been placed on the role that cerebellar dysfunctions could play in the genesis of cognitive deficits in Duchenne muscular dystrophy (DMD). However, relevant genotype-phenotype analyses are missing to define whether cerebellar defects underlie the severe cases of intellectual deficiency, which have been associated with genetic loss of the smallest product of the dmd gene, the Dp71 dystrophin. To determine for the first time whether Dp71 loss could affect cerebellar physiology and functions, we have used patch-clamp electrophysiological recordings in acute cerebellar slices and a cerebellum-dependent behavioral test battery addressing cerebellum-dependent motor and non-motor functions in Dp71-null transgenic mice...
June 12, 2018: Disease Models & Mechanisms
Ann Rancourt, Sébastien S Dufresne, Guillaume St-Pierre, Julie-Christine Lévesque, Haruka Nakamura, Yodai Kikuchi, Masahiko S Satoh, Jérôme Frenette, Sachiko Sato
The muscle membrane, sarcolemma, must be firmly attached to the basal lamina. The failure of proper attachment results in muscle injury, which is the underlying cause of Duchenne muscular dystrophy (DMD), in which mutations in the dystrophin gene disrupts the firm adhesion. In patients with DMD, even moderate contraction causes damage, leading to progressive muscle degeneration. The damaged muscles are repaired through myogenesis. Consequently, myogenesis is highly active in patients with DMD, and the repeated activation of myogenesis leads to the exhaustion of the myogenic stem cells...
June 12, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
Malcolm Maden, Jason Orr Brant, Andres Rubiano, Aaron Gabriel W Sandoval, Chelsey Simmons, Robert Mitchell, Henry Collin-Hooper, Jason Jacobson, Saleh Omairi, Ketan Patel
The spiny mouse, Acomys cahirinus, is an adult mammal capable of remarkable feats of scar-free tissue regeneration after damage to several organs including the skin and the heart. Here we investigate the regenerative properties of the skeletal muscle of A. cahirinus tibialis anterior in comparison to the lab mouse, Mus musculus. The A. cahirinus TA showed a similar distribution of myosin heavy chain fibre types and a reduced proportion of oxidative fibres compared to M. musculus. There were differences in the matrix components of the TA with regard to collagen VI and the biomechanical properties...
June 11, 2018: Scientific Reports
Antoine Boulanger Piette, Dounia Hamoudi, Laetitia Marcadet, Frédérique Kyomi Labelle, Rares Ovidiu David, Sabrina Bossé, Anteneh Argaw, Jérôme Frenette
The lack of dystrophin in Duchenne muscular dystrophy (DMD) compromises the integrity and function of muscle fibers. Skeletal muscles, except the diaphragm, do not undergo progressive degeneration in adult mdx mice due to compensatory mechanisms, including structural protein upregulation. New mouse models, including utrophin haploinsufficient mdx (mdx/utrn+/-) mice, may better recapitulate DMD. Our goal was to determine whether mdx/utrn+/- worsens the mdx phenotype and to characterize the course of the disease on muscle function and contractility at 1, 2, and 5 months of age, which encompass all stages of development relevant to DMD therapy...
2018: PloS One
Jeremiah Hadwen, Faraz Farooq Luke Witherspoon, Sarah Schock, Kevin Mongeon, Alex MacKenzie
Duchenne muscular dystrophy is a recessive X-linked disease characterized by progressive muscle wasting; cardiac or respiratory failure causes death in most patients by the third decade.  The disease is caused by mutations in the dystrophin gene that lead to a loss of functional dystrophin protein. Although there are currently few treatments for Duchenne muscular dystrophy, previous reports have shown that upregulating the dystrophin paralog utrophin in Duchenne muscular dystrophy mouse models is a promising therapeutic strategy...
June 7, 2018: Clinical and Translational Science
Sandra Murphy, Margit Zweyer, Michael Henry, Paula Meleady, Rustam R Mundegar, Dieter Swandulla, Kay Ohlendieck
The proteomic data presented in this article provide supporting information to the related research article "Proteomic analysis of the sarcolemma-enriched fraction from dystrophic mdx-4cv skeletal muscle" (Murphy et al., 2018) [1]. In the associated research article, the sarcolemma from normal versus dystrophic skeletal muscle was analyzed by mass spectrometry-based proteomics. Sarcolemma vesicles were enriched by a lectin agglutination method and then analyzed by liquid chromatography tandem mass spectrometry...
April 2018: Data in Brief
Xianjun Gao, Ning Ran, Xue Dong, Bingfeng Zuo, Rong Yang, Qibing Zhou, Hong M Moulton, Yiqi Seow, HaiFang Yin
Exosomes are circulating nanovesicular carriers of macromolecules, increasingly used for diagnostics and therapeutics. The ability to load and target patient-derived exosomes without altering exosomal surfaces is key to unlocking their therapeutic potential. We demonstrate that a peptide (CP05) identified by phage display enables targeting, cargo loading, and capture of exosomes from diverse origins, including patient-derived exosomes, through binding to CD63-an exosomal surface protein. Systemic administration of exosomes loaded with CP05-modified, dystrophin splice-correcting phosphorodiamidate morpholino oligomer (EXOPMO ) increased dystrophin protein 18-fold in quadriceps of dystrophin-deficient mdx mice compared to CP05-PMO...
June 6, 2018: Science Translational Medicine
Tetsushi Yamamoto, Hiroyuki Awano, Zhujun Zhang, Mio Sakuma, Shoko Kitaaki, Masaaki Matsumoto, Masashi Nagai, Itsuko Sato, Takamitsu Imanishi, Nobuhide Hayashi, Masafumi Matsuo, Kazumoto Iijima, Jun Saegusa
BACKGROUND: Duchenne muscular dystrophy (DMD), the most common inherited muscular disease in childhood, is caused by dystrophin deficiency because of mutations in the DMD gene. Although DMD is characterized by fatal progressive muscle wasting, cardiomyopathy is the most important nonmuscle symptom threatening the life of patients with DMD. The relationship between cardiac involvement and dystrophin isoforms has not been analyzed. METHODS AND RESULTS: The results of 1109 echocardiograms obtained from 181 Japanese DMD patients with confirmed mutations in the DMD gene were retrospectively analyzed...
January 2018: Circulation. Genomic and precision medicine
Tingting Sui, Yeh Siang Lau, Di Liu, Tingjun Liu, Li Xu, Yandi Gao, Liangxue Lai, Zhanjun Li, Renzhi Han
Duchenne muscular dystrophy (DMD) is an X-linked muscle-wasting disorder caused by mutations in the dystrophin gene, with an incidence of 1 in 3500 in new male births. Mdx mice are widely used as an animal model for DMD. However, these mice do not faithfully recapitulate DMD patients in many aspects, rendering the preclinical findings in this model questionable. Although larger animal models of DMD, such as dogs and pigs, have been generated, usage of these animals is expensive and only limited to several facilities in the world...
June 4, 2018: Disease Models & Mechanisms
Judith Lorant, Thibaut Larcher, Nicolas Jaulin, Benoît Hedan, Aurélie Lardenois, Isabelle Leroux, Laurence Dubreil, Mireille Ledevin, Hélicia Goubin, Sophie Moullec, Jack-Yves Deschamps, Chantal Thorin, Catherine André, Oumeya Adjali, Karl Rouger
Growing demonstrations of regenerative potential for some stem cells led recently to promising therapeutic proposals for neuromuscular diseases. We have shown that allogeneic MuStem cell transplantation into Golden Retriever muscular dystrophy (GRMD) dogs under continuous immunosuppression (IS) leads to persistent clinical stabilization and muscle repair. However, long-term IS in medical practice is associated with adverse effects raising safety concerns. Here, we investigate whether the IS removal or its restriction to the transplantation period could be considered...
January 1, 2018: Cell Transplantation
Janyerson Dannys Pereira da Silva, Diego Vannucci Campos, Fabiana Moreira Nogueira-Bechara, Roberta Sessa Stilhano, Sang Won Han, Rita Sinigaglia-Coimbra, Maria Teresa R Lima-Landman, Antônio José Lapa, Caden Souccar
Dystrophin deficiency caused by mutations of the related gene leads to muscle wasting in Duchenne muscular dystrophy (DMD). Some patients with DMD also present with intellectual disability and various degrees of neurological disorders, which have been related to a decreased number of postsynaptic gamma-aminobutyric acid type A receptors (GABAA Rs) in the hippocampus (HPC) and cerebellum (CBL). The aim of this study was to examine the relevance of dystrophin in the presynaptic GABAergic function in brain regions in which this protein is normally abundant...
June 1, 2018: Neurochemistry International
Josef Finsterer, Claudia Stöllberger, Birgit Freudenthaler, Desiree De Simoni, Romana Höftberger, Klaus Wagner
Female carriers of mutations in the dystrophin gene (DMD-carriers) may manifest clinically in the skeletal muscle, the heart, or both. Cardiac involvement may manifest before, after, or together with the muscle manifestations. A 46y female developed slowly progressive weakness of the lower and upper limbs with left-sided predominance since age 26y. Muscle enzymes were repeatedly elevated and muscle biopsy showed absence of dystrophin. MLPA analysis revealed a deletion of exons 12-29. After starting steroids at age 39y, she developed palpitations and exertional dyspnoea...
May 2018: Intractable & Rare Diseases Research
Marie Nearing, James Novak, Terence Partridge
Introduction: Duchenne Muscular Dystrophy is a genetic disease that is caused by a deficiency of dystrophin protein. Both Duchenne Muscular Dystrophy patients and dystrophic mice suffer from intestinal dysfunction. Methods: The present study arose from a chance observation of differences in fecal output of dystrophic vs. normal mice during 20-minutes of forced continuous treadmill exercise. Here, we report on the effects of exercise on fecal output in two different dystrophic mutants and their normal background control strains...
May 2, 2018: PLoS Currents
Mingxing Wang, Bo Wu, Sapana N Shah, Peijuan Lu, Qilong Lu
Antisense oligonucleotide (AON) therapy for Duchenne muscular dystrophy has drawn great attention in preclinical and clinical trials, but its therapeutic applications are still limited due to inefficient delivery. In this study, we investigated a few saponins for their potential to improve delivery performance of an antisense phosphorodiamidate morpholino oligomer (PMO) both in vitro and in vivo. The results showed that these saponins, especially digitonin and tomatine, improve the delivery efficiency of PMO comparable to Endo-Porter-mediated PMO delivery in vitro...
June 1, 2018: Molecular Therapy. Nucleic Acids
Derek W Wang, Ekaterina I Mokhonova, Genevieve C Kendall, Diana Becerra, Yalda B Naeini, Rita M Cantor, Melissa J Spencer, Stanley F Nelson, M Carrie Miceli
Duchenne muscular dystrophy (DMD) is caused by mutations in DMD, resulting in loss of dystrophin, which is essential to muscle health. DMD "exon skipping" uses anti-sense oligo-nucleotides (AONs) to force specific exon exclusion during mRNA processing to restore reading frame and rescue of partially functional dystrophin protein. Although exon-skipping drugs in humans show promise, levels of rescued dystrophin protein remain suboptimal. We previously identified dantrolene as a skip booster when combined with AON in human DMD cultures and short-term mdx dystrophic mouse studies...
June 1, 2018: Molecular Therapy. Nucleic Acids
Fawziah Mohammed, Alaa Elshafey, Haya Al-Balool, Hayat Alaboud, Mohammed Al Ben Ali, Adel Baqer, Laila Bastaki
Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked recessive neuromuscular disorders characterized by progressive irreversible muscle weakness and atrophy that affect both skeletal and cardiac muscles. DMD/BMD is caused by mutations in the Dystrophin gene on the X chromosome, leading to the absence of the essential muscle protein Dystrophin in DMD. In BMD, Dystrophin is partially functioning with a shorter protein product. Recent advances in molecular therapies for DMD require precise genetic diagnoses because most therapeutic strategies are mutation-specific...
2018: PloS One
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