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Muscular dystrophy

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https://www.readbyqxmd.com/read/28441765/distinct-fiber-type-signature-in-mouse-muscles-expressing-a-mutant-lamin-a-responsible-for-congenital-muscular-dystrophy-in-a-patient
#1
Alice Barateau, Nathalie Vadrot, Onnik Agbulut, Patrick Vicart, Sabrina Batonnet-Pichon, Brigitte Buendia
Specific mutations in LMNA, which encodes nuclear intermediate filament proteins lamins A/C, affect skeletal muscle tissues. Early-onset LMNA myopathies reveal different alterations of muscle fibers, including fiber type disproportion or prominent dystrophic and/or inflammatory changes. Recently, we identified the p.R388P LMNA mutation as responsible for congenital muscular dystrophy (L-CMD) and lipodystrophy. Here, we asked whether viral-mediated expression of mutant lamin A in murine skeletal muscles would be a pertinent model to reveal specific muscle alterations...
April 24, 2017: Cells
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
#2
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
#3
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
#4
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
#5
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/28433973/a-limb-girdle-muscular-dystrophy-responsive-to-asthma-therapy
#6
Eoin Mulroy, Roula Ghaoui, David Hutchinson, Miriam Rodrigues, Monkol Lek, Daniel G MacArthur, Sandra T Cooper, Nigel F Clarke, Richard Roxburgh
No abstract text is available yet for this article.
April 22, 2017: Practical Neurology
https://www.readbyqxmd.com/read/28433477/novel-mutations-in-the-c-terminal-region-of-gmppb-causing-limb-girdle-muscular-dystrophy-overlapping-with-congenital-myasthenic-syndrome
#7
Sushan Luo, Shuang Cai, Susan Maxwell, Dongyue Yue, Wenhua Zhu, Kai Qiao, Zhen Zhu, Lei Zhou, Jianying Xi, Jiahong Lu, David Beeson, Chongbo Zhao
Mutations in the GMPPB gene may underlie both limb girdle muscular dystrophy (LGMD) and congenital myasthenic syndrome (CMS). Forty-one cases have been reported to date and hotspot mutations are emerging in the Caucasian population. Clinical and pathological features of 5 patients with compound heterozygous GMPPB mutations were collected and retrospectively reviewed. In vitro functional analysis was performed to investigate the pathogeneity of GMPPB variants. The patients presented with proximal limb weakness in their first to second decades...
March 10, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28432191/gene-expression-effects-of-glucocorticoid-and-mineralocorticoid-receptor-agonists-and-antagonists-on-normal-human-skeletal-muscle
#8
Jessica A Chadwick, James Spencer Hauck, Celso E Gomez-Sanchez, Elise P Gomez-Sanchez, Jill A Rafael-Fortney
Mineralocorticoid and glucocorticoid receptors are closely related steroid hormone receptors that regulate gene expression through many of the same hormone response elements. However, their transcriptional activities and effects in skeletal muscles are largely unknown. We recently identified mineralocorticoid receptors (MR) in skeletal muscles after finding that combined treatment with the angiotensin-converting enzyme inhibitor lisinopril and MR antagonist spironolactone was therapeutic in Duchenne muscular dystrophy mouse models...
April 21, 2017: Physiological Genomics
https://www.readbyqxmd.com/read/28428837/large-is-required-for-normal-astrocyte-migration-and-retinal-vasculature-development
#9
Min Zhou, Herui Wang, Hui Ren, Rui Jiang, Chi Zhang, Xiaohui Wu, Gezhi Xu
BACKGROUND: Persistent fetal vasculature (PFV) is a congenital developmental anomaly of the eye that accounts for about 5% of childhood blindness. The molecular mechanism of PFV remains unclear. As a glycosyltransferase of α-dystroglycan, LARGE mutations have been found in congenital muscular dystrophy patients with brain abnormalities. Spontaneous Large mutant mice displayed similar symptoms of human muscle-eye-brain disorders. However, the detailed roles of Large in ocular vasculature development still need to be uncovered...
2017: Cell & Bioscience
https://www.readbyqxmd.com/read/28427448/capture-recapture-methodology-to-study-rare-conditions-using-surveillance-data-for-fragile-x-syndrome-and-muscular-dystrophy
#10
Michael G Smith, Julie Royer, Joshua Mann, Suzanne McDermott, Rodolfo Valdez
BACKGROUND: Rare conditions can be catastrophic for families and the implications for public health can be substantial. Our study compared basic surveillance through active medical record review with a linked administrative data file to assess the number of cases of two rare conditions, fragile X syndrome (FXS) and muscular dystrophy (MD) in a population. METHODS: Two methods of data collection were used to collect information from five counties comprising two standard metropolitan statistical areas of South Carolina...
April 21, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28427100/dystrophinopathies-and-limb-girdle-muscular-dystrophies
#11
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/28426282/emerging-roles-of-macrosatellite-repeats-in-genome-organization-and-disease-development
#12
Gabrijela Dumbovic, Sonia-V Forcales, Manuel Perucho
Abundant repetitive DNA sequences are an enigmatic part of the human genome. Despite increasing evidence on the functionality of DNA repeats, their biological role is still elusive and under frequent debate. Macrosatellites are the largest of the tandem DNA repeats, located on one or multiple chromosomes. The contribution of macrosatellites to genome regulation and human health was demonstrated for the D4Z4 macrosatellite repeat array on chromosome 4q35. Reduced copy number of D4Z4 repeats is associated with local euchromatinization and the onset of facioscapulohumeral muscular dystrophy...
April 20, 2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/28423240/biochemical-cellular-physiological-and-pathological-consequences-of-human-loss-of-n-glycolylneuraminic-acid
#13
Jonathan Okerblom, Ajit Varki
About 2-3 million years ago, Alu-mediated deletion of a critical exon in the CMAH gene became fixed in the hominin lineage ancestral to humans, possibly through a stepwise process of selection by pathogen targeting of the CMAH product (the sialic acid Neu5Gc), followed by reproductive isolation via female anti-Neu5Gc antibodies. Loss of CMAH has occurred independently in some other lineages, but is functionally intact in Old World primates, including our closest relatives, the chimpanzees. While the biophysical and biochemical ramifications of losing tens of millions of Neu5Gc hydroxyl groups at most cell surfaces remains poorly understood, there are multi-scale effects functionally relevant to both sides of the host-pathogen interface...
April 19, 2017: Chembiochem: a European Journal of Chemical Biology
https://www.readbyqxmd.com/read/28418733/feasibility-of-spect-ct-imaging-to-study-the-pharmacokinetics-of-antisense-oligonucleotides-in-a-mouse-model-of-duchenne-muscular-dystrophy
#14
Evita van de Steeg, Tilman Läppchen, Begoña Aguilera, Harm T Jansen, Daan Muilwijk, Rick Vermue, José W van der Hoorn, Katia Donato, Raffaella Rossin, Peter C de Visser, Maria L H Vlaming
Antisense oligonucleotides (AONs) are promising candidates for treatment of Duchenne muscular dystrophy (DMD), a severe and progressive disease resulting in premature death. However, more knowledge on the pharmacokinetics of new AON drug candidates is desired for effective application in the clinic. We assessed the feasibility of using noninvasive single-photon emission computed tomography-computed tomography (SPECT-CT) imaging to determine AON pharmacokinetics in vivo. To this end, a 2'-O-methyl phosphorothioate AON was radiolabeled with (123)I or (111)In, and administered to mdx mice, a rodent model of DMD...
April 18, 2017: Nucleic Acid Therapeutics
https://www.readbyqxmd.com/read/28416348/respiratory-function-in-facioscapulohumeral-muscular-dystrophy-1
#15
M Wohlgemuth, C G C Horlings, E L van der Kooi, H J Gilhuis, J C M Hendriks, S M van der Maarel, B G M van Engelen, Y F Heijdra, G W Padberg
To test the hypothesis that wheelchair dependency and (kypho-)scoliosis are risk factors for developing respiratory insufficiency in facioscapulohumeral muscular dystrophy, we examined 81 patients with facioscapulohumeral muscular dystrophy 1 of varying degrees of severity ranging from ambulatory patients to wheelchair-bound patients. We examined the patients neurologically and by conducting pulmonary function tests: Forced Vital Capacity, Forced Expiratory Volume in 1 second, and static maximal inspiratory and expiratory mouth pressures...
March 22, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28416280/progress-toward-gene-therapy-for-duchenne-muscular-dystrophy
#16
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/28413459/expression-levels-of-tgf-%C3%AE-1-and-ctgf-are-associated-with-the-severity-of-duchenne-muscular-dystrophy
#17
Yanmin Song, Shuai Yao, Yunhai Liu, Lili Long, Huan Yang, Qiuxiang Li, Jinghui Liang, Xinxin Li, Yuling Lu, Haoran Zhu, Ning Zhang
The present study aimed to analyze the association of transforming growth factor-β1 (TGF-β1) and connective tissue growth factor (CTGF) expression levels in skeletal muscle with the clinical manifestation of Duchenne muscular dystrophy (DMD). A total of 18 cases of DMD, which were confirmed by routine pathological diagnosis were recruited into the present study, along with 8 subjects who suffered from acute trauma but did not present any neuromuscular diseases and were enrolled as the healthy controls. Immunohistochemical staining was used to detect the expression levels of CTGF and TGF-β1 in muscle biopsy specimens...
April 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28412297/dysferlinopathy-promotes-an-intramuscle-expansion-of-macrophages-with-a-cyto-destructive-phenotype
#18
Jea-Hyun Baek, Gina M Many, Frances J Evesson, Vicki R Kelley
Dysferlinopathies are a group of muscular dystrophies resulting from a genetic deficiency in Dysf. Macrophages, highly plastic cells capable of mediating tissue repair and destruction, are prominent within dystrophic skeletal muscles of dysferlinopathy patients. In this study, we hypothesized that Dysf-deficient muscle promotes recruitment, proliferation, and skewing of macrophages toward a cyto-destructive phenotype in dysferlinopathy. To track macrophage dynamics in dysferlinopathy, we adoptively transferred enhanced green fluorescent protein-labeled monocytes into Dysf-deficient BLA/J mice with age-related (2 to 10 months) muscle disease and Dysf-intact (C57BL/6 [B6]) mice...
April 13, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28407826/-a-retrospective-analysis-of-6-children-with-duchenne-muscular-dystrophy
#19
Yu-Jie Yin, Yu-Ping Huang, Chao Lu, Xue-Ping Sun, Feng-Nan Niu, Rui Jin, Guo-Ping Zhou
OBJECTIVE: To analyze the clinical features of 6 children with Duchenne muscular dystrophy (DMD) and review related literature, and to provide a basis for early diagnosis and effective treatment of this disease. METHODS: A retrospective analysis was performed on the clinical data of 6 children with DMD who were admitted to the First Affiliated Hospital of Nanjing Medical University from January 2010 to October 2015. RESULTS: All the 6 cases were boys without a family history of DMD, and the age of diagnosis of DMD was 1...
April 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28403854/gait-characterization-in-golden-retriever-muscular-dystrophy-dogs-using-linear-discriminant-analysis
#20
Bodvaël Fraysse, Inès Barthélémy, El Mostafa Qannari, Karl Rouger, Chantal Thorin, Stéphane Blot, Caroline Le Guiner, Yan Chérel, Jean-Yves Hogrel
BACKGROUND: Accelerometric analysis of gait abnormalities in golden retriever muscular dystrophy (GRMD) dogs is of limited sensitivity, and produces highly complex data. The use of discriminant analysis may enable simpler and more sensitive evaluation of treatment benefits in this important preclinical model. METHODS: Accelerometry was performed twice monthly between the ages of 2 and 12 months on 8 healthy and 20 GRMD dogs. Seven accelerometric parameters were analysed using linear discriminant analysis (LDA)...
April 12, 2017: BMC Musculoskeletal Disorders
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