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https://www.readbyqxmd.com/read/29284661/effect-of-ibuprofen-on-skeletal-muscle-of-dysferlin-null-mice
#1
Alyssa F Collier, Jessica Gumerson, Jace W Jones, Maureen A Kane, Kimmo Lehtimaki, Jukka Puolivali, Sankeerth Manne, Andrea O'Neill, Hillarie P Windish, Toni Ahtoniemi, Bradley A Williams, Douglas E Albrecht, Robert J Bloch
Ibuprofen, a non-steroidal anti-inflammatory drug, and nitric oxide (NO) donors have been reported to reduce the severity of muscular dystrophies in mice associated with the absence of dystrophin or α-sarcoglycan, but their effects on mice that are dystrophic due to the absence of dysferlin have not been examined. We have tested ibuprofen, as well as isosorbide dinitrate (ISDN), an NO donor, to learn if used alone or together they protect dysferlin-null muscle in A/J mice from large strain injury (LSI) induced by a series of high strain lengthening contractions...
December 28, 2017: Journal of Pharmacology and Experimental Therapeutics
https://www.readbyqxmd.com/read/29187535/transient-receptor-potential-channel-6-regulates-abnormal-cardiac-s-nitrosylation-in-duchenne-muscular-dystrophy
#2
Heaseung Sophia Chung, Grace E Kim, Ronald J Holewinski, Vidya Venkatraman, Guangshuo Zhu, Djahida Bedja, David A Kass, Jennifer E Van Eyk
Duchenne muscular dystrophy (DMD) is an X-linked disorder with dystrophin loss that results in skeletal and cardiac muscle weakening and early death. Loss of the dystrophin-sarcoglycan complex delocalizes nitric oxide synthase (NOS) to alter its signaling, and augments mechanosensitive intracellular Ca2+ influx. The latter has been coupled to hyperactivation of the nonselective cation channel, transient receptor potential canonical channel 6 (Trpc6), in isolated myocytes. As Ca2+ also activates NOS, we hypothesized that Trpc6 would help to mediate nitric oxide (NO) dysregulation and that this would be manifest in increased myocardial S-nitrosylation, a posttranslational modification increasingly implicated in neurodegenerative, inflammatory, and muscle disease...
December 12, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28889091/mri-in-sarcoglycanopathies-a-large-international-cohort-study
#3
Giorgio Tasca, Mauro Monforte, Jordi Díaz-Manera, Giacomo Brisca, Claudio Semplicini, Adele D'Amico, Fabiana Fattori, Anna Pichiecchio, Angela Berardinelli, Lorenzo Maggi, Elio Maccagnano, Nicoline Løkken, Chiara Marini-Bettolo, Francina Munell, Angel Sanchez, Nahla Alshaikh, Nicol C Voermans, Jahannaz Dastgir, Dmitry Vlodavets, Jana Haberlová, Gianmichele Magnano, Maggie C Walter, Susana Quijano-Roy, Robert-Yves Carlier, Baziel G M van Engelen, John Vissing, Volker Straub, Carsten G Bönnemann, Eugenio Mercuri, Francesco Muntoni, Elena Pegoraro, Enrico Bertini, Bjarne Udd, Enzo Ricci, Claudio Bruno
OBJECTIVES: To characterise the pattern and spectrum of involvement on muscle MRI in a large cohort of patients with sarcoglycanopathies, which are limb-girdle muscular dystrophies (LGMD2C-2F) caused by mutations in one of the four genes coding for muscle sarcoglycans. METHODS: Lower limb MRI scans of patients with LGMD2C-2F, ranging from severe childhood variants to milder adult-onset forms, were collected in 17 neuromuscular referral centres in Europe and USA...
September 9, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28869676/alcohol-improves-cerebellar-learning-deficit-in-myoclonus-dystonia-a-clinical-and-electrophysiological-investigation
#4
Anne Weissbach, Elisa Werner, Julien F Bally, Sinem Tunc, Sebastian Löns, Dagmar Timmann, Kirsten E Zeuner, Vera Tadic, Norbert Brüggemann, Anthony Lang, Christine Klein, Alexander Münchau, Tobias Bäumer
OBJECTIVE: To characterize neurophysiological subcortical abnormalities in myoclonus-dystonia and their modulation by alcohol administration. METHODS: Cerebellar associative learning and basal ganglia-brainstem interaction were investigated in 17 myoclonus-dystonia patients with epsilon-sarcoglycan (SGCE) gene mutation and 21 age- and sex-matched healthy controls by means of classical eyeblink conditioning and blink reflex recovery cycle before and after alcohol intake resulting in a breath alcohol concentration of 0...
October 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28855126/effects-of-epicatechin-on-frontal-cortex-dapc-and-dysbindin-of-the-mdx-mice
#5
Francisco J Estrada-Mena, Alonso Rodriguez, Patricia Mendoza-Lorenzo, Teresa Neri-Gomez, Gabriel Manjarrez-Gutierrez, Andric C Perez-Ortiz, Rosa Ordonez-Razo, Guillermo Ceballos, Francisco Villarreal, Israel Ramirez-Sanchez
INTRODUCTION: Multiple components of the dystrophin-associated protein complex (DAPC) are expressed in numerous tissues including the brain. Members of the DAPC and dysbindin are abnormally expressed in the brain of Duchenne Muscular Dystrophy (DMD) patients, which has been associated with cognitive impairments. However, little is known about the expression pattern of individual members of the DAPC in animal models of DMD and their relationship with dysbindin. METHODS: Ten mdx mice were randomly allocated into a control and intervention group [(-)-epicatechin (Epi) 1mg/kg/day for four weeks] and results compared to a wild-type mice...
September 29, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28821434/cleavage-of-%C3%AE-dystroglycan-occurs-in-sarcoglycan-deficient-skeletal-muscle-without-mmp-2-and-mmp-9
#6
Yuta Fukai, Yutaka Ohsawa, Hideaki Ohtsubo, Shin-Ichiro Nishimatsu, Hiroki Hagiwara, Makoto Noda, Toshikuni Sasaoka, Tatsufumi Murakami, Yoshihide Sunada
BACKGROUND: The dystroglycan complex consists of two subunits: extracellular α-dystroglycan and membrane-spanning β-dystroglycan, which provide a tight link between the extracellular matrix and the intracellular cytoskeleton. Previous studies showed that 43 kDa β-dystroglycan is proteolytically cleaved into the 30 kDa fragment by matrix metalloproteinases (MMPs) in various non-muscle tissues, whereas it is protected from cleavage in muscles by the sarcoglycan complex which resides close to the dystroglycan complex...
October 14, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28797108/natural-disease-history-of-mouse-models-for-limb-girdle-muscular-dystrophy-types-2d-and-2f
#7
S Pasteuning-Vuhman, K Putker, C L Tanganyika-de Winter, J W Boertje-van der Meulen, L van Vliet, M Overzier, J J Plomp, A Aartsma-Rus, M van Putten
Limb-girdle muscular dystrophy types 2D and 2F (LGMD 2D and 2F) are autosomal recessive disorders caused by mutations in the alpha- and delta sarcoglycan genes, respectively, leading to severe muscle weakness and degeneration. The cause of the disease has been well characterized and a number of animal models are available for pre-clinical studies to test potential therapeutic interventions. To facilitate transition from drug discovery to clinical trials, standardized procedures and natural disease history data were collected for these mouse models...
2017: PloS One
https://www.readbyqxmd.com/read/28768281/%C3%AE-sarcoglycan-deficiency-reduces-atherosclerotic-plaque-development-in-apoe-null-mice
#8
Vignesh Murugesan, Eva Degerman, Ann-Kristin Holmen-Pålbrink, Pontus Duner, Anki Knutsson, Anna Hultgårdh-Nilsson, Uwe Rauch
BACKGROUND: Smooth muscle cells are important for atherosclerotic plaque stability. Their proper ability to communicate with the extracellular matrix is crucial for maintaining the correct tissue integrity. In this study, we have investigated the role of β-sarcoglycan within the matrix-binding dystrophin-glycoprotein complex in the development of atherosclerosis. RESULTS: Atherosclerotic plaque development was significantly reduced in ApoE-deficient mice lacking β-sarcoglycan, and their plaques contained an increase in differentiated smooth muscle cells...
2017: Journal of Vascular Research
https://www.readbyqxmd.com/read/28765879/mass-spectrometric-identification-of-dystrophin-the-protein-product-of-the-duchenne-muscular-dystrophy%C3%A2-gene-in-distinct-muscle-surface-membranes
#9
Sandra Murphy, Kay Ohlendieck
Supramolecular membrane complexes of low abundance are difficult to study by routine bioanalytical techniques. The plasmalemmal complex consisting of sarcoglycans, dystroglycans, dystrobrevins and syntrophins, which is closely associated with the membrane cytoskeletal protein dystrophin, represents such a high‑molecular‑mass protein assembly in skeletal muscles. The almost complete loss of the dystrophin isoform Dp427‑M and concomitant reduction in the dystrophin‑associated glycoprotein complex is the underlying cause of the highly progressive neuromuscular disorder named Duchenne muscular dystrophy...
October 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28727929/na-h-exchanger-and-proton-channel-in-heart-failure-associated-with-becker-and-duchenne-muscular-dystrophies
#10
Ghassan Bkaily, Danielle Jacques
Cardiomyopathy is found in patients with Duchenne (DMD) and Becker (BMD) muscular dystrophies, which are linked muscle diseases caused by mutations in the dystrophin gene. Dystrophin defects are not limited to DMD but are also present in mild BMD. The hereditary cardiomyopathic hamster of the UM-X7.1 strain is a particular experimental model of heart failure (HF) leading to early death in muscular dystrophy (dystrophin deficiency and sarcoglycan mutation) and heart disease (δ-sarcoglycan deficiency and dystrophin mutation) in human DMD...
October 2017: Canadian Journal of Physiology and Pharmacology
https://www.readbyqxmd.com/read/28702169/exome-sequencing-reveals-independent-sgcd-deletions-causing-limb-girdle-muscular-dystrophy-in-boston-terriers
#11
Melissa L Cox, Jacquelyn M Evans, Alexander G Davis, Ling T Guo, Jennifer R Levy, Alison N Starr-Moss, Elina Salmela, Marjo K Hytönen, Hannes Lohi, Kevin P Campbell, Leigh Anne Clark, G Diane Shelton
BACKGROUND: Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of inherited autosomal myopathies that preferentially affect voluntary muscles of the shoulders and hips. LGMD has been clinically described in several breeds of dogs, but the responsible mutations are unknown. The clinical presentation in dogs is characterized by marked muscle weakness and atrophy in the shoulder and hips during puppyhood. METHODS: Following clinical evaluation, the identification of the dystrophic histological phenotype on muscle histology, and demonstration of the absence of sarcoglycan-sarcospan complex by immunostaining, whole exome sequencing was performed on five Boston terriers: one affected dog and its three family members and one unrelated affected dog...
2017: Skeletal Muscle
https://www.readbyqxmd.com/read/28697784/exome-sequencing-reveals-independent-sgcd-deletions-causing-limb-girdle-muscular-dystrophy-in-boston-terriers
#12
Melissa L Cox, Jacquelyn M Evans, Alexander G Davis, Ling T Guo, Jennifer R Levy, Alison N Starr-Moss, Elina Salmela, Marjo K Hytönen, Hannes Lohi, Kevin P Campbell, Leigh Anne Clark, G Diane Shelton
BACKGROUND: Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of inherited autosomal myopathies that preferentially affect voluntary muscles of the shoulders and hips. LGMD has been clinically described in several breeds of dogs, but the responsible mutations are unknown. The clinical presentation in dogs is characterized by marked muscle weakness and atrophy in the shoulder and hips during puppyhood. METHODS: Following clinical evaluation, the identification of the dystrophic histological phenotype on muscle histology, and demonstration of the absence of sarcoglycan-sarcospan complex by immunostaining, whole exome sequencing was performed on five Boston terriers: one affected dog and its three family members and one unrelated affected dog...
July 11, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/28690014/psychiatric-symptoms-in-myoclonus-dystonia-syndrome-are-just-concomitant-features-regardless-of-the-sgce-gene-mutation
#13
Ji-Young Kim, Woong-Woo Lee, Chae Won Shin, Han-Joon Kim, Sung-Sup Park, Sun Ju Chung, Jin Whan Cho, Ho-Sung Ryu, Tae Ok Son, Beomseok Jeon
INTRODUCTION: Among myoclonus-dystonia syndrome (MD) patients, psychiatric disorders including depression, anxiety, alcohol dependence, obsessive-compulsive disorder (OCD) and panic disorder have been frequently reported to be related with the epsilon-sarcoglycan gene (SGCE) mutation. However, the rate of psychiatric disorders has not been compared between MD patients with the SGCE mutation (SGCE (+)) and without the SGCE mutation (SGCE (-)). We analyzed the psychiatric data in both SGCE (+) and SGCE (-) MD patients to determine the association of the SGCE mutation with psychiatric disorders in MD...
September 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28593034/nanospan-an-alternatively-spliced-isoform-of-sarcospan-localizes-to-the-sarcoplasmic-reticulum-in-skeletal-muscle-and-is-absent-in-limb-girdle-muscular-dystrophy-2f
#14
Angela K Peter, Gaynor Miller, Joana Capote, Marino DiFranco, Alhondra Solares-Pérez, Emily L Wang, Jim Heighway, Ramón M Coral-Vázquez, Julio Vergara, Rachelle H Crosbie-Watson
BACKGROUND: Sarcospan (SSPN) is a transmembrane protein that interacts with the sarcoglycans (SGs) to form a tight subcomplex within the dystrophin-glycoprotein complex that spans the sarcolemma and interacts with laminin in the extracellular matrix. Overexpression of SSPN ameliorates Duchenne muscular dystrophy in murine models. METHODS: Standard cloning approaches were used to identify nanospan, and nanospan-specific polyclonal antibodies were generated and validated...
2017: Skeletal Muscle
https://www.readbyqxmd.com/read/28587652/nanospan-an-alternatively-spliced-isoform-of-sarcospan-localizes-to-the-sarcoplasmic-reticulum-in-skeletal-muscle-and-is-absent-in-limb-girdle-muscular-dystrophy-2f
#15
Angela K Peter, Gaynor Miller, Joana Capote, Marino DiFranco, Alhondra Solares-Pérez, Emily L Wang, Jim Heighway, Ramón M Coral-Vázquez, Julio Vergara, Rachelle H Crosbie-Watson
BACKGROUND: Sarcospan (SSPN) is a transmembrane protein that interacts with the sarcoglycans (SGs) to form a tight subcomplex within the dystrophin-glycoprotein complex that spans the sarcolemma and interacts with laminin in the extracellular matrix. Overexpression of SSPN ameliorates Duchenne muscular dystrophy in murine models. METHODS: Standard cloning approaches were used to identify nanospan, and nanospan-specific polyclonal antibodies were generated and validated...
June 6, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/28503362/a-case-of-myoclonus-dystonia-responding-to-low-frequency-pallidal-stimulation
#16
Harini Sarva, Joan Miravite, Matthew C Swan, Andres Deik, Deborah Raymond, William Lawrence Severt, Brian H Kopell
BACKGROUND: High-frequency pallidal stimulation has been shown to improve various types of dystonia, including myoclonus-dystonia. CASE REPORT: We report a case of epsilon sarcoglycan mutation-negative myoclonus-dystonia with response to low-frequency bilateral pallidal stimulation. DISCUSSION: Low-frequency pallidal stimulation provides an effective means of treating various dystonias, regardless of genetic status, as in our case, as it provides increased programming options with fewer adverse effects...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28412737/whole-exome-sequencing-identifies-sgcd-and-acvrl1-mutations-associated-with-total-anomalous-pulmonary-venous-return-tapvr-in-chinese-population
#17
Jun Li, Shiwei Yang, Zhening Pu, Juncheng Dai, Tao Jiang, Fangzhi Du, Zhu Jiang, Yue Cheng, Genyin Dai, Jun Wang, Jirong Qi, Liming Cao, Xueying Cheng, Cong Ren, Xinli Li, Yuming Qin
As a rare type of Congenital Heart Defects (CHD), the genetic mechanism of Total Anomalous Pulmonary Venous Return (TAPVR) remains unknown, although previous studies have revealed potential disease-driving regions/genes. Blood samples collected from the 6 sporadic TAPVR cases and 81 non-TAPVR controls were subjected to whole exome sequencing. All detected variations were confirmed by direct Sanger sequencing. Here, we identified 2 non-synonymous missense mutations: c.C652T, p.R218W in activin A receptor type II-like 1 (ACVRL1), c...
April 25, 2017: Oncotarget
https://www.readbyqxmd.com/read/28284983/systemic-aav-mediated-%C3%AE-sarcoglycan-delivery-targeting-cardiac-and-skeletal-muscle-ameliorates-histological-and-functional-deficits-in-lgmd2e-mice
#18
Eric R Pozsgai, Danielle A Griffin, Kristin N Heller, Jerry R Mendell, Louise R Rodino-Klapac
Limb-girdle muscular dystrophy type 2E (LGMD2E), resulting from mutations in β-sarcoglycan (SGCB), is a progressive dystrophy with deteriorating muscle function, respiratory failure, and cardiomyopathy in 50% or more of LGMD2E patients. SGCB knockout mice share many of the phenotypic deficiencies of LGMD2E patients. To investigate systemic SGCB gene transfer to treat skeletal and cardiac muscle deficits, we designed a self-complementary AAVrh74 vector containing a codon-optimized human SGCB transgene driven by a muscle-specific promoter...
April 5, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28219397/immunohistochemistry-of-sarcolemmal-membrane-associated-proteins-in-formalin-fixed-and-paraffin-embedded-skeletal-muscle-tissue-a-promising-tool-for-the-diagnostic-evaluation-of-common-muscular-dystrophies
#19
Chinnawut Suriyonplengsaeng, Charungthai Dejthevaporn, Chaiyos Khongkhatithum, Suda Sanpapant, Nattha Tubthong, Koset Pinpradap, Nippa Srinark, Jariya Waisayarat
BACKGROUND: The analysis of fresh frozen muscle specimens is standard following routine muscle biopsy, but this service is not widely available in countries with limited medical facilities, such as Thailand. Nevertheless, immunohistochemistry (IHC) analysis is essential for the diagnosis of patients with a strong clinical suspicion of muscular dystrophy, in the absence of mutations detected by molecular genetics. As the successful labelling of sarcolemmal membrane-associated proteins in formalin-fixed and paraffin-embedded (FFPE) muscle sections using IHC staining has rarely been described, this study aimed to develop a reproducible IHC method for such an analysis...
February 20, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/28155872/faithful-sgce-imprinting-in-ipsc-derived-cortical-neurons-an-endogenous-cellular-model-of-myoclonus-dystonia
#20
Karen Grütz, Philip Seibler, Anne Weissbach, Katja Lohmann, Francesca A Carlisle, Derek J Blake, Ana Westenberger, Christine Klein, Anne Grünewald
In neuropathology research, induced pluripotent stem cell (iPSC)-derived neurons are considered a tool closely resembling the patient brain. Albeit in respect to epigenetics, this concept has been challenged. We generated iPSC-derived cortical neurons from myoclonus-dystonia patients with mutations (W100G and R102X) in the maternally imprinted ε-sarcoglycan (SGCE) gene and analysed properties such as imprinting, mRNA and protein expression. Comparison of the promoter during reprogramming and differentiation showed tissue-independent differential methylation...
February 3, 2017: Scientific Reports
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