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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
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
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
Milena Doroszko, Marcin Chrusciel, Kirstine Belling, Susanna Vuorenoja, Marlene Dalgaard, Henrik Leffers, H Bjørn Nielsen, Ilpo Huhtaniemi, Jorma Toppari, Nafis A Rahman
Specific inbred strains and transgenic inhibin-α Simian Virus 40 T antigen (inhα/Tag) mice are genetically susceptible to gonadectomy-induced adrenocortical neoplasias. We identified altered gene expression in prepubertally gonadectomized (GDX) inhα/Tag and wild-type (WT) mice. Besides earlier reported Gata4 and Lhcgr, we found up-regulated Esr1, Prlr-rs1, and down-regulated Grb10, Mmp24, Sgcd, Rerg, Gnas, Nfatc2, Gnrhr, Igf2 in inhα/Tag adrenal tumors. Sex-steroidogenic enzyme genes expression (Srd5a1, Cyp19a1) was up-regulated in tumors, but adrenal-specific steroidogenic enzyme (Cyp21a1, Cyp11b1, Cyp11b2) down-regulated...
January 25, 2017: Molecular and Cellular Endocrinology
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
Çetin Lütfi Baydar, Minel Özen
No abstract text is available yet for this article.
July 31, 2016: Anatolian Journal of Cardiology
Marzieh Mojbafan, Yalda Nilipour, Seyed Hasan Tonekaboni, Samira Dabbagh Bagheri, Hamideh Bagherian, Zohreh Sharifi, Zahra Zeinali, Javad Tavakkoly-Bazzaz, Sirous Zeinali
Sarcoglycanopathies (SGPs) constitute a subgroup of autosomal recessive limb girdle muscular dystrophies (LGMDs) which are caused by mutations in sarcoglycan (SGs) genes. SG proteins form a core complex consisting of α, β, γ and δ sarcoglycans which are encoded by SGCA, SGCB, SGCG and SGCD genes, respectively. Genetic defect, in any of these SG proteins, results in instability of the whole complex. This effect can be helpful in interpreting muscle biopsy results. Autozygosity mapping is a gene mapping approach which can be applied in large consanguineous families for tracking the defective gene in most autosomal recessive disorders...
March 2016: Journal of Neurogenetics
Yuqiang Zhao, Ji Li, Huijing Liu, Yu Xi, Ming Xue, Wanghong Liu, Zhenhua Zhuang, Minggang Lei
BACKGROUND: The growth and development of skeletal muscle directly impacts the quantity and quality of pork production. Chinese indigenous pig breeds and exotic species vary greatly in terms of muscle production and performance traits. We present transcriptome profiles of 110 skeletal muscle samples from Tongcheng (TC) and Yorkshire (YK) pigs at 11 developmental periods (30, 40, 55, 63, 70, 90, and 105 days of gestation, and 0, 1, 3, and 5 weeks of age) using digital gene expression on Solexa/Illumina's Genome Analyzer platform to investigate the differences in prenatal and postnatal skeletal muscle between the two breeds...
2015: BMC Genomics
Rasna Sabharwal, Robert M Weiss, Kathy Zimmerman, Oliver Domenig, Michael Z Cicha, Mark W Chapleau
What is the central question of this study? Is autonomic dysregulation in a mouse model of muscular dystrophy dependent on left ventricular systolic dysfunction and/or activation of the renin-angiotensin system (RAS) and does it predict development of dilated cardiomyopathy (DCM)? What is the main finding and its importance? The results demonstrate that autonomic dysregulation precedes and predicts left ventricular dysfunction and DCM in sarcoglycan-δ-deficient (Sgcd-/-) mice. The autonomic dysregulation is prevented by treatment of young Sgcd-/- mice with the angiotensin II type 1 receptor blocker losartan...
July 1, 2015: Experimental Physiology
Nadia N Hansel, Peter D Paré, Nicholas Rafaels, Don D Sin, Andrew Sandford, Denise Daley, Candelaria Vergara, Lili Huang, W Mark Elliott, Chris D Pascoe, Bryna A Arsenault, Dirkje S Postma, H Marike Boezen, Yohan Bossé, Maarten van den Berge, Pieter S Hiemstra, Michael H Cho, Augusto A Litonjua, David Sparrow, Carole Ober, Robert A Wise, John Connett, Enid R Neptune, Terri H Beaty, Ingo Ruczinski, Rasika A Mathias, Kathleen C Barnes
Increased airway responsiveness is linked to lung function decline and mortality in subjects with chronic obstructive pulmonary disease (COPD); however, the genetic contribution to airway responsiveness remains largely unknown. A genome-wide association study (GWAS) was performed using the Illumina (San Diego, CA) Human660W-Quad BeadChip on European Americans with COPD from the Lung Health Study. Linear regression models with correlated meta-analyses, including data from baseline (n = 2,814) and Year 5 (n = 2,657), were used to test for common genetic variants associated with airway responsiveness...
August 2015: American Journal of Respiratory Cell and Molecular Biology
Alison M Blain, Elizabeth Greally, Steven H Laval, Andrew M Blamire, Guy A MacGowan, Volker W Straub
Outcomes of clinical trials depend on the quality of preceding preclinical research, yet functional assays and outcome measures for mouse models of disease are often poorly standardized or inappropriate. Muscular dystrophies are associated with cardiomyopathy so preclinical research requires reliable measures of cardiac function in animal models of the disease. MRI and conductance catheter were compared as preclinical tools to detect cardiomyopathy in two mouse models of muscular dystrophy. Sgcd-/-, mdx and C57Bl10 mice (n = 7/group) were assessed by catheter following MRI at an early stage of cardiomyopathy...
January 2015: Neuromuscular Disorders: NMD
Federica Accornero, Onur Kanisicak, Andoria Tjondrokoesoemo, Aria C Attia, Elizabeth M McNally, Jeffery D Molkentin
Muscular dystrophy (MD) is a disease characterized by skeletal muscle necrosis and the progressive accumulation of fibrotic tissue. While transforming growth factor (TGF)-β has emerged as central effector of MD and fibrotic disease, the cell types in diseased muscle that underlie TGFβ-dependent pathology have not been segregated. Here, we generated transgenic mice with myofiber-specific inhibition of TGFβ signaling owing to expression of a TGFβ type II receptor dominant-negative (dnTGFβRII) truncation mutant...
December 20, 2014: Human Molecular Genetics
Erin R Wissing, Justin G Boyer, Jennifer Q Kwong, Michelle A Sargent, Jason Karch, Elizabeth M McNally, Kinya Otsu, Jeffery D Molkentin
Muscular dystrophies are a group of genetic diseases that lead to muscle wasting and, in most cases, premature death. Cytokines and inflammatory factors are released during the disease process where they promote deleterious signaling events that directly participate in myofiber death. Here, we show that p38α, a kinase in the greater mitogen-activated protein kinase (MAPK)-signaling network, serves as a nodal regulator of disease signaling in dystrophic muscle. Deletion of Mapk14 (p38α-encoding gene) in the skeletal muscle of mdx- (lacking dystrophin) or sgcd- (δ-sarcoglycan-encoding gene) null mice resulted in a significant reduction in pathology up to 6 months of age...
October 15, 2014: Human Molecular Genetics
Adam R Burr, Douglas P Millay, Sanjeewa A Goonasekera, Ki Ho Park, Michelle A Sargent, James Collins, Francisco Altamirano, Kenneth D Philipson, Paul D Allen, Jianjie Ma, José Rafael López, Jeffery D Molkentin
Unregulated Ca(2+) entry is thought to underlie muscular dystrophy. Here, we generated skeletal-muscle-specific transgenic (TG) mice expressing the Na(+)-Ca(2+) exchanger 1 (NCX1) to model its identified augmentation during muscular dystrophy. The NCX1 transgene induced dystrophy-like disease in all hind-limb musculature, as well as exacerbated the muscle disease phenotypes in δ-sarcoglycan (Sgcd(-/-)), Dysf(-/-), and mdx mouse models of muscular dystrophy. Antithetically, muscle-specific deletion of the Slc8a1 (NCX1) gene diminished hind-limb pathology in Sgcd(-/-) mice...
June 2014: Molecular and Cellular Biology
Sanjeewa A Goonasekera, Jennifer Davis, Jennifer Q Kwong, Federica Accornero, Lan Wei-LaPierre, Michelle A Sargent, Robert T Dirksen, Jeffery D Molkentin
Muscular dystrophy is a progressive muscle wasting disease that is thought to be initiated by unregulated Ca(2+) influx into myofibers leading to their death. Store-operated Ca(2+) entry (SOCE) through sarcolemmal Ca(2+) selective Orai1 channels in complex with STIM1 in the sarcoplasmic reticulum is one such potential disease mechanism for pathologic Ca(2+) entry. Here, we generated a mouse model of STIM1 overexpression in skeletal muscle to determine whether this type of Ca(2+) entry could induce muscular dystrophy...
July 15, 2014: Human Molecular Genetics
Rasna Sabharwal, Michael Z Cicha, Ruben D M Sinisterra, Frederico B De Sousa, Robson A Santos, Mark W Chapleau
Muscular dystrophies are a group of heterogeneous genetic disorders that cause progressive muscle weakness and wasting, dilated cardiomyopathy and early mortality. There are different types of muscular dystrophies with varying aetiologies but they all have a common hallmark of myofibre degeneration, atrophy and decreased mobility. Mutation in Sgcd (sarcoglycan-δ), a subunit of dystrophin glycoprotein complex, causes LGMD2F (limb girdle muscular dystrophy 2F). Previously, we have reported that Sgcd-deficient (Sgcd-/-) mice exhibit AngII (angiotensin II)-induced autonomic and skeletal muscle dysfunction at a young age, which contributes to onset of dilated cardiomyopathy and mortality at older ages...
July 2014: Clinical Science (1979-)
Qi Fan, Lv-Zhen Huang, Xiang-Jia Zhu, Ke-Ke Zhang, Hong-Fei Ye, Yi Luo, Xing-Huai Sun, Peng Zhou, Yi Lu
PURPOSE: To identify proteins interacting with alpha A-crystallin (CRYAA) and to investigate the potential role that these protein interactions play in the function of CRYAA using a human proteome (HuProt) microarray. METHODS: The active full-length CRYAA protein corresponding to amino acids 1-173 of CRYAA was recombined. A HuProt microarray composed of 17,225 human full-length proteins with N-terminal glutathione S-transferase (GST) tags was used to identify protein-protein interactions...
2014: Molecular Vision
Rasna Sabharwal, Mark W Chapleau
New Findings What is the topic of this review? This symposium report summarizes autonomic, cardiac and skeletal muscle abnormalities in sarcoglycan-δ-deficient mice (Sgcd-/-), a mouse model of limb girdle muscular dystrophy, with emphasis on the roles of autonomic dysregulation and activation of the renin-angiotensin system at a young age. What advances does it highlight? The contributions of the autonomic nervous system and the renin-angiotensin system to the pathogenesis of muscular dystrophy are highlighted...
April 2014: Experimental Physiology
Jennifer Davis, Jennifer Q Kwong, Richard N Kitsis, Jeffery D Molkentin
Myofiber wasting in muscular dystrophy has largely been ascribed to necrotic cell death, despite reports identifying apoptotic markers in dystrophic muscle. Here we set out to identify the contribution of canonical apoptotic pathways to skeletal muscle degeneration in muscular dystrophy by genetically deleting a known inhibitor of apoptosis, apoptosis repressor with a card domain (Arc), in dystrophic mouse models. Nol3 (Arc protein) genetic deletion in the dystrophic Sgcd or Lama2 null backgrounds showed exacerbated skeletal muscle pathology with decreased muscle performance compared with single null dystrophic littermate controls...
2013: PloS One
C Makena Hightower, Kuixing Zhang, José P Miramontes-González, Fangwen Rao, Zhiyun Wei, Andrew J Schork, Caroline M Nievergelt, Nilima Biswas, Manjula Mahata, Nina Elkelis, Laurent Taupenot, Mats Stridsberg, Michael G Ziegler, Daniel T O'Connor
The Syrian Cardiomyopathic Hamster (BIO-14.6/53.58 strains) model of cardiac failure, resulting from naturally occurring deletion at the SGCD (delta-sarcoglycan) locus, displays widespread disturbances in catecholamine metabolism. Rare Mendelian myopathy disorders of human SGCD occur, although common naturally occurring SGCD genetic variation has not been evaluated for effects on human norepinephrine (NE) secretion. This study investigated the effect of SGCD genetic variation on control of NE secretion in healthy twin pairs...
December 2013: Journal of Neurochemistry
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