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https://www.readbyqxmd.com/read/28088539/the-dna-damage-response-of-c-elegans-affected-by-gravity-sensing-and-radiosensitivity-during-the-shenzhou-8-spaceflight
#1
Ying Gao, Dan Xu, Lei Zhao, Yeqing Sun
Space radiation and microgravity are recognized as primary and inevitable risk factors for humans traveling in space, but the reports regarding their synergistic effects remain inconclusive and vary across studies due to differences in the environmental conditions and intrinsic biological sensitivity. Thus, we studied the synergistic effects on transcriptional changes in the global genome and DNA damage response (DDR) by using dys-1 mutant and ced-1 mutant of C. elegans, which respectively presented microgravity-insensitivity and radiosensitivity when exposure to spaceflight condition (SF) and space radiation (SR)...
January 7, 2017: Mutation Research
https://www.readbyqxmd.com/read/28087735/relationships-linking-emotional-motor-cognitive-and-gabaergic-dysfunctions-in-dystrophin-deficient-mdx-mice
#2
Cyrille Vaillend, Rémi Chaussenot
Alterations in the Duchenne muscular dystrophy (DMD) gene have been associated with enhanced stress reactivity in vertebrate species, suggesting a role for brain dystrophin in fear-related behavioral and cognitive processes. Because the loss of dystrophin (Dp427) reduces clustering of central GABAA receptors, it is suspected that local inhibitory tuning and modulation of neuronal excitability are perturbed in a distributed brain circuit that normally controls such critical behavioral functions. In this study we undertook a large-scale behavioral study to evaluate fear-related behavioral disturbances in dystrophin-deficient mdx mice...
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28081371/gwas-identifies-new-loci-for-painful-temporomandibular-disorder
#3
A E Sanders, D Jain, T Sofer, K F Kerr, C C Laurie, J R Shaffer, M L Marazita, L M Kaste, G D Slade, R B Fillingim, R Ohrbach, W Maixner, T Kocher, O Bernhardt, A Teumer, C Schwahn, K Sipilä, R Lähdesmäki, M Männikkö, P Pesonen, M Järvelin, C M Rizzatti-Barbosa, C B Meloto, M Ribeiro-Dasilva, L Diatchenko, P Serrano, S B Smith
Temporomandibular disorder (TMD) is a musculoskeletal condition characterized by pain and reduced function in the temporomandibular joint and/or associated masticatory musculature. Prevalence in the United States is 5% and twice as high among women as men. We conducted a discovery genome-wide association study (GWAS) of TMD in 10,153 participants (769 cases, 9,384 controls) of the US Hispanic Community Health Study/Study of Latinos (HCHS/SOL). The most promising single-nucleotide polymorphisms (SNPs) were tested in meta-analysis of 4 independent cohorts...
January 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28079318/duchenne-muscular-dystrophy-and-becker-muscular-dystrophy-confirmed-by-multiplex-ligation-dependent-probe-amplification-genotype-phenotype-correlation-in-a-large-cohort
#4
Seena Vengalil, Veeramani Preethish-Kumar, Kiran Polavarapu, Manjunath Mahadevappa, Deepha Sekar, Meera Purushottam, Priya Treesa Thomas, Saraswathi Nashi, Atchayaram Nalini
BACKGROUND AND PURPOSE: Studies of cases of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) confirmed by multiplex ligation-dependent probe amplification (MLPA) have determined the clinical characteristics, genotype, and relations between the reading frame and phenotype for different countries. This is the first such study from India. METHODS: A retrospective genotype-phenotype analysis of 317 MLPA-confirmed patients with DMD or BMD who visited the neuromuscular clinic of a quaternary referral center in southern India...
January 2017: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/28074489/a-novel-nf-%C3%AE%C2%BAb-inhibitor-edasalonexent-cat-1004-in-development-as-a-disease-modifying-treatment-for-patients-with-duchenne-muscular-dystrophy-phase-1-safety-pharmacokinetics-and-pharmacodynamics-in-adult-subjects
#5
Joanne M Donovan, Michael Zimmer, Elliot Offman, Toni Grant, Michael Jirousek
In Duchenne muscular dystrophy (DMD), NF-κB is activated in skeletal muscle from infancy regardless of the underlying dystrophin mutation and drives inflammation and muscle degeneration while inhibiting muscle regeneration. Edasalonexent (CAT-1004) is a bifunctional orally administered small molecule that covalently links 2 compounds known to inhibit NF-κB, salicylic acid and docosahexaenoic acid (DHA). Edasalonexent is designed to inhibit activated NF-κB upon intracellular cleavage to these bioactive components...
January 11, 2017: Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/28057052/an-evaluation-of-the-evolution-of-the-gene-structure-of-dystroglycan
#6
Andrea Brancaccio, Josephine C Adams
BACKGROUND: Dystroglycan (DG) is an adhesion receptor complex composed of two non-covalently associated subunits, transcribed from a single gene. The extracellular α-DG is highly and heterogeneously glycosylated and binds with high affinity to laminins, and the transmembrane β-DG binds intracellular dystrophin. Multiple cellular functions have been proposed for DG, notwithstanding that its role in skeletal muscle appears central as demonstrated by both primary and secondary severe muscular dystrophic phenotypes collectively known as dystroglycanopathies...
January 3, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28028563/whole-genome-sequencing-reveals-a-7-base-pair-deletion-in-dmd-exon-42-in-a-dog-with-muscular-dystrophy
#7
Peter P Nghiem, Luca Bello, Cindy Balog-Alvarez, Sara Mata López, Amanda Bettis, Heather Barnett, Briana Hernandez, Scott J Schatzberg, Richard J Piercy, Joe N Kornegay
Dystrophin is a key cytoskeletal protein coded by the Duchenne muscular dystrophy (DMD) gene located on the X-chromosome. Truncating mutations in the DMD gene cause loss of dystrophin and the classical DMD clinical syndrome. Spontaneous DMD gene mutations and associated phenotypes occur in several other species. The mdx mouse model and the golden retriever muscular dystrophy (GRMD) canine model have been used extensively to study DMD disease pathogenesis and show efficacy and side effects of putative treatments...
December 27, 2016: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/28018975/disease-modifying-effects-of-orally-bioavailable-nf-%C3%AE%C2%BAb-inhibitors-in-dystrophin-deficient-muscle
#8
David W Hammers, Margaret M Sleeper, Sean C Forbes, Cora C Coker, Michael R Jirousek, Michael Zimmer, Glenn A Walter, H Lee Sweeney
Duchenne muscular dystrophy (DMD) is a devastating muscle disease characterized by progressive muscle deterioration and replacement with an aberrant fatty, fibrous matrix. Chronic upregulation of nuclear factor κB (NF-κB) is implicated as a driver of the dystrophic pathogenesis. Herein, 2 members of a novel class of NF-κB inhibitors, edasalonexent (formerly CAT-1004) and CAT-1041, were evaluated in both mdx mouse and golden retriever muscular dystrophy (GRMD) dog models of DMD. These orally bioavailable compounds consist of a polyunsaturated fatty acid conjugated to salicylic acid and potently suppress the pathogenic NF-κB subunit p65/RelA in vitro...
December 22, 2016: JCI Insight
https://www.readbyqxmd.com/read/28017949/-impacts-of-physical-exercise-on-remodeling-and-hypertrophy-of-skeletal-muscle
#9
Yoshihiro Sakashita, Takayuki Uchida, Takeshi Nikawa
The skeletal muscle has high sensitivity for the mechanical stress. Because it is enlarged by training, whereas it is easily withered by lack of exercise. When we exercise, skeletal muscle cells per se sense mechanical loading, and muscular remodeling and the muscular hypertrophy occur. It has been revealed that the intracellular signaling through PGC-1α participates in the remodeling of the skeletal muscle, while PGC-1α4, an isoform of PGC-1α, and the dystrophin-glycoprotein complex play important roles in muscular hypertrophy...
2017: Clinical Calcium
https://www.readbyqxmd.com/read/28003225/muscles-specific-microrna-206-targets-multiple-components-in-dystrophic-skeletal-muscle-representing-beneficial-adaptations
#10
Adel Amirouche, Vanessa E Jahnke, John A Lunde, Nathalie Koulmann, Damien G Freyssenet, Bernard J Jasmin
Over the last several years, converging lines of evidence have indicated that miR-206 plays a pivotal role in promoting muscle differentiation and regeneration, thereby potentially impacting positively on the progression of neuromuscular disorders including Duchenne muscular dystrophy (DMD). Despite several studies showing the regulatory function of miR-206 on target mRNAs in skeletal muscle cells, the effects of overexpression of miR-206 in dystrophic muscles remain to be established. Here, we found that miR-206 overexpression in mdx mouse muscles simultaneously targets multiple mRNAs and proteins implicated in satellite cell differentiation, muscle regeneration, and at the neuromuscular junction...
December 21, 2016: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/27999547/myocardial-contractile-dysfunction-is-present-without-histopathology-in-a-mouse-model-of-limb-girdle-muscular-dystrophy-2f-and-is-prevented-after-claudin-5-virotherapy
#11
Nima Milani-Nejad, Eric J Schultz, Jessica L Slabaugh, Paul M L Janssen, Jill A Rafael-Fortney
Mutations in several members of the dystrophin glycoprotein complex lead to skeletal and cardiomyopathies. Cardiac care for these muscular dystrophies consists of management of symptoms with standard heart medications after detection of reduced whole heart function. Recent evidence from both Duchenne muscular dystrophy patients and animal models suggests that myocardial dysfunction is present before myocardial damage or deficiencies in whole heart function, and that treatment prior to heart failure symptoms may be beneficial...
2016: Frontiers in Physiology
https://www.readbyqxmd.com/read/27997693/genetic-ablation-of-p65-subunit-of-nf-%C3%AE%C2%BAb-in-mdx-mice-to-improve-muscle-physiological-function
#12
Xi Yin, Ying Tang, Jian Li, Anna T Dzuricky, Chuanqiang Pu, Freddie Fu, Bing Wang
INTRODUCTION: Duchenne muscular dystrophy (DMD) is a genetic muscle disease characterized by dystrophin deficiency. Beyond gene replacement, the question of whether ablation of the p65 gene of nuclear factor-kappa B (NF-κB) in DMD can improve muscle physiology function is unknown. In this study, we investigated muscle physiological improvement in mdx mice (DMD model) with a genetic reduction of NF-κB. METHODS: Muscle physiological function and histology were studied in 2-month-old mdx/p65(+/-) , wild-type (WT), mdx, and human minidystrophin gene transgenic mdx (TghΔDys/mdx) mice...
December 20, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27988307/interleukin-6-and-neuregulin-1-as-regulators-of-utrophin-expression-via-the-activation-of-nrg-1-erbb-signaling-pathway-in-mdx-cells
#13
Nevenka Juretić, Josefina Díaz, Felipe Romero, Gustavo González, Enrique Jaimovich, Nora Riveros
Duchenne muscular dystrophy (DMD) is a neuromuscular disease originated by mutations in the dystrophin gene. A promising therapeutic approach deals with functional substitution of dystrophin by utrophin, a structural homolog that might be able to compensate dystrophin absence in DMD muscle fibers. It has been described that both interleukin-6 (IL-6) and neuregulin-1 (NRG-1; Heregulin-HRG) induce utrophin expression in skeletal muscle. We investigated a possible functional link among IL-6, NRG-1 and utrophin, in normal (C57) and dystrophic (mdx) skeletal muscle cells...
December 15, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27979987/altered-nuclear-dynamics-in-mdx-myofibers
#14
Shama R Iyer, Sameer B Shah, Ana P Valencia, Martin F Schneider, Erick O Hernandez-Ochoa, Joseph P Stains, Silvia S Blemker, Richard M Lovering
Duchenne muscular dystrophy (DMD) is a genetic disorder in which the absence of dystrophin leads to progressive muscle degeneration and weakness. While the genetic basis is known, the pathophysiology of dystrophic skeletal muscle remains unclear. We examined nuclear movement in wild type (WT) and dystrophin-null (MDX) mouse myofibers. We also examined expression of proteins in the LINC (linkers of nucleoskeleton and cytoskeleton) complex as well as nuclear transcriptional activity via histone H3 acetylation and polyadenylate-binding nuclear protein-1...
December 15, 2016: Journal of Applied Physiology
https://www.readbyqxmd.com/read/27975174/dysregulation-of-intracellular-ca-2-in-dystrophic-cortical-and-hippocampal-neurons
#15
José R Lopez, Juan Kolster, Arkady Uryash, Eric Estève, Francisco Altamirano, José A Adams
Duchenne muscular dystrophy (DMD) is an inherited X-linked disorder characterized by skeletal muscle wasting, cardiomyopathy, as well as cognitive impairment. Lack of dystrophin in striated muscle produces dyshomeostasis of resting intracellular Ca(2+) ([Ca(2+)]i), Na(+) ([Na(+)]i), and oxidative stress. Here, we test the hypothesis that similar to striated muscle cells, an absence of dystrophin in neurons from mdx mice (a mouse model for DMD) is also associated with dysfunction of [Ca(2+)]i homeostasis and oxidative stress...
December 15, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27956144/self-aggregating-1-8kda-polyethylenimines-with-dissolution-switch-at-endosomal-acidic-ph-are-delivery-carriers-for-plasmid-dna-mrna-sirna-and-exon-skipping-oligonucleotides
#16
Manuela Chiper, Nassera Tounsi, Ryszard Kole, Antoine Kichler, Guy Zuber
Efficiency of polyethylenimine (PEI) for nucleic acid delivery is affected by the size of the carrier and length of the nucleic acids. For instance, PEIs with molecular weights between 10-30kDa provide optimal DNA delivery activity whereas PEIs with molecular weights below 1.8kDa are ineffective. The activity of PEI is also severely diminished by substitution of DNA for shorter nucleic acids such as mRNA or siRNA. Here, through chemical modification of the primary amines to aromatic domains we achieved nucleic acid delivery by the 1...
December 9, 2016: Journal of Controlled Release: Official Journal of the Controlled Release Society
https://www.readbyqxmd.com/read/27955624/a-case-report-becker-muscular-dystrophy-presenting-with-epilepsy-and-dysgnosia-induced-by-duplication-mutation-of-dystrophin-gene
#17
Jing Miao, Jia-Chun Feng, Dan Zhu, Xue-Fan Yu
BACKGROUND: Becker muscular dystrophy (BMD), a genetic disorder of X-linked recessive inheritance, typically presents with gradually progressive muscle weakness. The condition is caused by mutations of Dystrophin gene located at Xp21.2. Epilepsy is an infrequent manifestation of BMD, while cases of BMD with dysgnosia are extremely rare. CASE PRESENTATION: We describe a 9-year-old boy with BMD, who presented with epilepsy and dysgnosia. Serum creatine kinase level was markedly elevated (3665 U/L)...
December 12, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27936976/exon-skipping-a-first-in-class-strategy-for-duchenne-muscular-dystrophy
#18
Erik H Niks, Annemieke Aartsma-Rus
Exon skipping is a therapeutic approach for Duchenne muscular dystrophy (DMD) that has been in development for close to two decades. This approach uses antisense oligonucleotides (AONs) to modulate pre-mRNA splicing of dystrophin transcripts to restore the disrupted DMD reading frame. The approach has moved from in vitro proof of concept studies to the clinical trial phase and marketing authorization applications with regulators. The first AON (eteplirsen) has recently received accelerated approval by the Food and Drug Administration in the US...
December 23, 2016: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/27935071/severe-murine-limb-girdle-muscular-dystrophy-type-2c-pathology-is-diminished-by-fty720-treatment
#19
Ahlke Heydemann
INTRODUCTION: Limb Girdle Muscular Dystrophy Type 2C (LGMD-2C) is caused by mutations in ɤ-sarcoglycan and is a devastating, progressive, and fully lethal human muscle wasting disease that is without effective treatment. This study examined the efficacy of the sphingosine-1-phosphate receptor modulator FTY720 in treating Sgcg-/-DBA2/J, a severe mouse model of LGMD-2C. FTY720 treatment is expected to target LGMD-2C disease progression at 2 key positions by reducing chronic inflammation and fibrosis...
December 9, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27933712/the-importance-of-mrna-structure-in-determining-the-pathogenicity-of-synonymous-and-non-synonymous-mutations-in-haemophilia
#20
N Hamasaki-Katagiri, B C Lin, J Simon, R C Hunt, T Schiller, E Russek-Cohen, A A Komar, H Bar, C Kimchi-Sarfaty
INTRODUCTION: Mutational analysis is commonly used to support the diagnosis and management of haemophilia. This has allowed for the generation of large mutation databases which provide unparalleled insight into genotype-phenotype relationships. Haemophilia is associated with inversions, deletions, insertions, nonsense and missense mutations. Both synonymous and non-synonymous mutations influence the base pairing of messenger RNA (mRNA), which can alter mRNA structure, cellular half-life and ribosome processivity/elongation...
January 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
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