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Delta sarcoglycan

Marzieh Mojbafan, Yalda Nilipour, Seyed Hasan Tonekaboni, Javad Tavakkoly-Bazzaz, Sirous Zeinali
OBJECTIVE AND IMPORTANCE: The sarcoglycanopathies (SGPs) are a subgroup of autosomal recessive limb girdle muscular dystrophies. They are caused by mutations in gamma, alpha, beta, and delta sarcoglycans (SGs) genes. Alpha-SGPs are the most frequent form of SGPs. Muscle biopsy studies in patients with SGPs have indicated that loss of one SG subunit leads to instability of whole SG complex. Autozygosity mapping is a powerful gene mapping approach for rare recessive inherited disorders in consanguineous families...
March 2016: Neurological Research
Matthew D Campbell, Marc Witcher, Anoop Gopal, Daniel E Michele
Delta-sarcoglycan is a component of the sarcoglycan subcomplex within the dystrophin-glycoprotein complex located at the plasma membrane of muscle cells. While recessive mutations in δ-sarcoglycan cause limb girdle muscular dystrophy 2F, dominant mutations in δ-sarcoglycan have been linked to inherited dilated cardiomyopathy (DCM). The purpose of this study was to investigate functional cellular defects present in adult cardiac myocytes expressing mutant δ-sarcoglycans harboring the dominant inherited DCM mutations R71T or R97Q...
May 1, 2016: American Journal of Physiology. Heart and Circulatory Physiology
Hakan Tarakci, Joachim Berger
In skeletal muscle, the dystrophin-associated glycoprotein complex forms a link between the actin cytoskeleton and the extracellular matrix that is critical for muscle integrity. Within this complex resides the sarcoglycan subcomplex, which consists of four transmembrane glycoproteins (alpha-, beta-, gamma-, and delta-sarcoglycan). During assembly, beta-sarcoglycan tightly associates with delta-sarcoglycan to form a functional core that then recruits gamma- and alpha-sarcoglycan to form the sarcoglycan complex...
2016: Frontiers in Bioscience (Landmark Edition)
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
Rensong Ye, Wenlan Yang, Yiming Yuan, Xingqi Deng
Obstructive sleep apnea (OSA) is a highly heterogeneous sleep disorder, and increasing evidence suggests that genetic factors play a role in the etiology of OSA. Airway muscle dysfunction might promote pharyngeal collapsibility, mutations or single nucleotide polymorphisms (SNPs) in the delta-sarcoglycan (SCGD) gene associated with muscle dysfunction. To evaluate if SCGD gene SNPs are associated with OSA, 101 individuals without OSA and 97 OSA patients were recruited randomly. The genotype distributions of SNPs (rs157350, rs7715464, rs32076, rs13170573 and rs1835919) in case and control populations were evaluated...
2014: PloS One
Gulden Diniz, Hulya Tosun Yildirim, Gulcin Akinci, Filiz Hazan, Aysel Ozturk, Kanay Yararbas, Ajlan Tukun
BACKGROUND: The sarcoglycan alpha gene, also known as the adhalin gene, is located on chromosome 17q21; mutations in this gene are associated with limb-girdle muscular dystrophy type 2D. We describe two Turkish siblings with findings consistent with limb-girdle muscular dystrophy type 2D. The evaluation excluded a dystrophinopathy, which is the most common form of muscular dystrophy. PATIENTS: Both siblings had very high levels of creatinine phosphokinase and negative molecular tests for deletions and duplications of the dystrophin gene...
June 2014: Pediatric Neurology
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
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
Ida Luisa Rotundo, Alessio Lancioni, Marco Savarese, Luca D'Orsi, Michele Iacomino, Gerardo Nigro, Giulio Piluso, Alberto Auricchio, Vincenzo Nigro
The BIO14.6 hamster carries a mutation in the delta sarcoglycan gene causing muscular dystrophy and cardiomyopathy. The disease can be prevented by systemic delivery of delta sarcoglycan cDNA using adeno-associated viruses (AAVs). However, all AAVs also target the liver, raising concerns about their therapeutic efficacy in human applications. We compared the AAV2/8 with the chimeric AAV2/2i8, in which the 585-QQNTAP-590 motif of the AAV8 serotype was added to the heparan sulfate receptor footprint of the AAV2 strain...
April 2013: Human Gene Therapy
Rosa M Ordoñez-Razo, Martín H Garrido-Garduño, Ramón A Pérez-Martínez, Victor M Ruiz, Esteban Herrera-Tepatlán, Maricela Rodríguez-Cruz, Ana L Jiménez-Vaca, Fernando Minauro-Sanmiguel, Fabio A Salamanca-Gómez
BACKGROUND: The C allele of c.-94C>G polymorphism of the delta-sarcoglycan gene was associated as a risk factor for coronary spasm in Japanese patients with hypertrophic cardiomyopathy (HCM). AIM: We evaluated whether the c.-94C>G polymorphism can be a risk factor for HCM in Mexican patients. METHODS: The polymorphism was genotyped and the risk was estimated in 35 HCM patients and 145 healthy unrelated individuals. Data of this polymorphism reported in Mexican Amerindian populations were included...
August 2012: Genetic Testing and Molecular Biomarkers
Boris T Ivandic, Sergey E Mastitsky, Frank Schönsiegel, Raffi Bekeredjian, Roland Eils, Norbert Frey, Hugo A Katus, Benedikt Brors
AIMS: Penetrance and phenotypic expressivity of cardiomyopathies are modulated by modifier genes both in model systems and patients. We aimed to dissect the disease-modifying mechanisms by examining genome-wide gene expression in a new set of mouse (Mus musculus) congenic strains. METHODS AND RESULTS: Mutant alleles of the genes calsarcin-1 (Myoz2), sarcoglycan-delta (Sgcd), and muscle LIM protein (Csrp2) were each transferred onto inbred strain backgrounds C57BL/6, C3H/He, 129S1/Sv, and FVB/N, respectively...
April 1, 2012: Cardiovascular Research
Ida Luisa Rotundo, Stefania Faraso, Elvira De Leonibus, Gerardo Nigro, Carmen Vitiello, Alessio Lancioni, Daniele Di Napoli, Sigismondo Castaldo, Vincenzo Russo, Fabio Russo, Giulio Piluso, Alberto Auricchio, Vincenzo Nigro
We have previously demonstrated that gene therapy can rescue the phenotype and extend lifespan in the delta-sarcoglycan deficient cardiomyopathic hamster. In patients with similar genetic defects, steroids have been largely used to slow down disease progression. Aim of our study was to evaluate the combined effects of steroid treatment and gene therapy on cardiac function. We injected the human delta-sarcoglycan cDNA by adeno-associated virus (AAV) 2/8 by a single intraperitoneal injection into BIO14.6 Syrian hamsters at ten days of age to rescue the phenotype...
2011: PloS One
Alexandra Bastian, H H Goebel
UNLABELLED: Protein aggregation has been identified in muscle fibres and, thus, in certain neuromuscular disorders. There are certain similarities between IBM and DRM: midlife or late-onset clinical symptoms, apparently of both sporadic and genetic background, morphologically autophagocytosis by vacuole formation, which is frequent in IBM though rare in DRM, and presence of tubulofilamentous aggregates, which is almost regular in IBM but scantily found in DRM as beta-amyloid components have been identified as accruing proteins, both in IBM and DRM...
2010: Romanian Journal of Internal Medicine, Revue Roumaine de Médecine Interne
Thomas G Hampton, Ajit Kale, Ivo Amende, Wenlong Tang, Scott McCue, Hemmi N Bhagavan, Case G VanDongen
The delta-sarcoglycan-deficient hamster is an excellent model to study muscular dystrophy. Gait disturbances, important clinically, have not been described in this animal model. We applied ventral plane videography (DigiGait) to analyze gait in BIO TO-2 dystrophic and BIO F1B control hamsters walking on a transparent treadmill belt. Stride length was ∼13% shorter (P < .05) in TO-2 hamsters at 9 months of age compared to F1B hamsters. Hindlimb propulsion duration, an indicator of muscle strength, was shorter in 9-month-old TO-2 (247 ± 8 ms) compared to F1B hamsters (272 ± 11 ms; P < ...
2011: Journal of Biomedicine & Biotechnology
Bernhard M Kaess, Maciej Tomaszewski, Peter S Braund, Klaus Stark, Suzanne Rafelt, Marcus Fischer, Robert Hardwick, Christopher P Nelson, Radoslaw Debiec, Fritz Huber, Werner Kremer, Hans Robert Kalbitzer, Lynda M Rose, Daniel I Chasman, Jemma Hopewell, Robert Clarke, Paul R Burton, Martin D Tobin, Christian Hengstenberg, Nilesh J Samani
BACKGROUND: HDL cholesterol (HDL-C) is an established marker of cardiovascular risk with significant genetic determination. However, HDL particles are not homogenous, and refined HDL phenotyping may improve insight into regulation of HDL metabolism. We therefore assessed HDL particles by NMR spectroscopy and conducted a large-scale candidate gene association analysis. METHODOLOGY/PRINCIPAL FINDINGS: We measured plasma HDL-C and determined mean HDL particle size and particle number by NMR spectroscopy in 2024 individuals from 512 British Caucasian families...
2011: PloS One
Masahiko Hoshijima, Takeharu Hayashi, Young E Jeon, Zhenxing Fu, Yusu Gu, Nancy D Dalton, Mark H Ellisman, Xiao Xiao, Frank L Powell, John Ross
BACKGROUND: The BIO14.6 hamster provides a useful model of hereditary cardiomyopathies and muscular dystrophy. Previous δ-sarcoglycan (δSG) gene therapy (GT) studies were limited to neonatal and young adult animals and prevented the development of cardiac and skeletal muscle dysfunction. GT of a pseudophosphorylated mutant of phospholamban (S16EPLN) moderately alleviated the progression of cardiomyopathy. METHODS AND RESULTS: We treated 4-month-old BIO14.6 hamsters with established cardiac and skeletal muscle diseases intravenously with a serotype-9 adeno-associated viral vector carrying δSG alone or in combination with S16EPLN...
January 2011: Circulation. Heart Failure
Janaka P Wansapura, Douglas P Millay, R Scott Dunn, Jeffery D Molkentin, D Woodrow Benson
Delta-sarcoglycan (δ-sarcoglycan) null, Scgd(-/-), mice develop cardiac and skeletal muscle histopathological alterations similar to those in humans with limb-girdle muscular dystrophy. The objective of this study was to assess the feasibility of using MRI to investigate cardiac dysfunction in Scgd(-/-) mice. Cardiac MRI of 8 month old Scgd(-/-) and wild type (WT) mice was performed. Compared to WT, Scgd(-/-) mice had significantly lower LV ejection fraction (44±5% vs. 66±4%, p=0.014), lower RV ejection fraction (25±2% vs...
January 2011: Neuromuscular Disorders: NMD
Alhondra Solares-Pérez, Rocío Alvarez, Rachelle H Crosbie, Jesús Vega-Moreno, Joel Medina-Monares, Francisco J Estrada, Alicia Ortega, Ramón Coral-Vazquez
Sarcoglycans (SGs) and sarcospan (SSPN) are transmembrane proteins of the dystrophin-glycoprotein complex. Mutations in the genes encoding SGs cause many inherited forms of muscular dystrophy. In this study, using purified membranes of wild-type (WT) and delta-SG knockout (KO) mice, we found the specific localization of the SG-SSPN isoforms in transverse tubules (TT) and sarcoplasmic reticulum (SR) membranes. Immunoblotting revealed that the absence of delta-SG isoforms in TT and SR results in a secondary deficiency of gamma-SG and microSPN...
July 2010: Cell Calcium
Bodvaël Fraysse, Sadia M Nagi, Belinda Boher, Hélène Ragot, Jeanne Lainé, André Salmon, Marc Y Fiszman, Marcel Toussaint, Yves Fromes
Muscular dystrophies are often associated with significant cardiac disease that can be the prominent feature associated with gene mutations in sarcoglycan. Cardiac cell death is a main feature of cardiomyopathy in sarcoglycan deficiency and may arise as a cardiomyocyte intrinsic process that remains unclear. Deficiency of delta-sarcoglycan (delta-SG) induces disruption of the dystrophin-associated glycoprotein complex, a known cause of membrane instability that may explain cardiomyocytes cytosolic Ca2+ increase...
September 2010: American Journal of Physiology. Cell Physiology
Y Ying, O J Müller, C Goehringer, B Leuchs, M Trepel, H A Katus, J A Kleinschmidt
Selection of targeted vectors from virus display peptide libraries is a versatile and efficient approach to improve vector specificity and efficiency. This strategy has been used to target various cell types in vitro. Here, we report the screening of an adeno-associated virus type 2 (AAV2) display peptide library in vivo to select vectors specifically homing to heart tissue after systemic application in mice. Selected library clones indicated superior specificity of gene transfer compared with wild-type AAV2, AAV9 and a heparin binding-deficient AAV2 mutant...
August 2010: Gene Therapy
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