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Eskandar Taghizadeh, Hamed Abdolkarimi, Reza Boostani, Arianeh Sadrnabavi
Limb-girdle muscular dystrophies (LGMDs) are a large group of genetic diseases in which there is muscle weakness and they are heterogonous diseases. The following study conducted in September 2017 in Mashhad, northwest of southern Khorasan Province, Iran reports a four years girl of autosomal recessive LGMD with proximal weakness and myopathy patterns. We detected four new alternations in this patient not reported for our population. One of them was important clinically that exists as unreported homozygous deletion encompassing exon 2 of the Sarcoglycan Beta ( SGCB ) gene...
December 2018: Iranian Journal of Public Health
Zhiying Xie, Yue Hou, Meng Yu, Yilin Liu, Yanbin Fan, Wei Zhang, Zhaoxia Wang, Hui Xiong, Yun Yuan
BACKGROUND: Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D, LGMD2E, and LGMD2F) that are caused, respectively, by mutations in the SGCG, SGCA, SGCB, and SGCD genes. Knowledge about the clinical and genetic features of sarcoglycanopathies in Chinese patients is limited. The aims of this study were to investigate in detail the clinical manifestations, sarcoglycan expression, and gene mutations in Chinese patients with sarcoglycanopathies and to identify possible correlations between them...
February 14, 2019: Orphanet Journal of Rare Diseases
Marzieh Mojbafan, Ali Khajeh, Haleh Habibi, Hamideh Bagherian, Sirous Zeinali
INTRODUCTION: Calpainopathy is an autosomal recessive form of limb girdle muscular dystrophies (LGMDs) caused by mutations in the CAPN3 gene. CAPN3 is a Ca2+ -dependent cystein protease consisting of 821 amino acids. LGMD is a highly heterogeneous disorder and mutation identification of this disease by Sanger sequencing of all genes is expensive and time consuming. Using autozygosity mapping is an effective approach to address this issue. METHODS: We used two sets of multiplex STR (Short tandem repeat) markers linked to CAPN3, DYSF, SGCA, SGCB, SGCG, SGCD genes following sequencing of the CAPN3 gene...
November 30, 2018: Gene
Gaia Giovannelli, Giorgia Giacomazzi, Hanne Grosemans, Maurilio Sampaolesi
INTRODUCTION: Limb-girdle muscular dystrophy type 2E (LGMD2E) is caused by mutations in the β-sarcoglycan gene, which is expressed in skeletal, cardiac, and smooth muscles. β-Sarcoglycan-deficient (Sgcb-null) mice develop severe muscular dystrophy and cardiomyopathy with focal areas of necrosis. METHODS: In this study we performed morphological (histological and cellular characterization) and functional (isometric tetanic force and fatigue) analyses in dystrophic mice...
February 24, 2018: Muscle & Nerve
Alessio Rotini, Ester Martínez-Sarrà, Robin Duelen, Domiziana Costamagna, Ester Sara Di Filippo, Giorgia Giacomazzi, Hanne Grosemans, Stefania Fulle, Maurilio Sampaolesi
Sarcopenia is the age-related loss of muscle mass, strength, and function. Although the role of human satellite cells (SCs) as adult skeletal muscle stem cells has been deeply investigated, little is known about the impact of aging on muscle interstitial stem cells. Here, we isolated the non-SC CD56- fraction from human muscle biopsies of young and elderly subjects. The elderly interstitial cell population contained a higher number of CD15+ and PDGFRα+ cells when compared to young samples. In addition, we found that the CD56- /ALP+ cells were well represented as a multipotent stem cell population inside the CD56- fraction...
April 2018: Aging Cell
Soudeh Ghafouri-Fard, Feyzollah Hashemi-Gorji, Majid Fardaei, Mohammad Miryounesi
Autosomal recessive limb-girdle muscular dystrophies (LGMD type 2) are a group of clinically and genetically heterogeneous diseases with the main characteristics of weakness and wasting of the pelvic and shoulder girdle muscles. Among them are sarcoglycanopathies caused by mutations in at least four genes named SGCA, SGCB, SGCG and SGCD. Here we report a consanguineous Iranian family with two children affected with LGMD type 2E. Mutation analysis revealed a novel homozygous exon 2 deletion of SGCB gene in the patients with the parents being heterozygous for this deletion...
2017: Iranian Journal of Child Neurology
Ester Martínez-Sarrà, Sheyla Montori, Carlos Gil-Recio, Raquel Núñez-Toldrà, Domiziana Costamagna, Alessio Rotini, Maher Atari, Aernout Luttun, Maurilio Sampaolesi
BACKGROUND: Dental pulp represents an easily accessible autologous source of adult stem cells. A subset of these cells, named dental pulp pluripotent-like stem cells (DPPSC), shows high plasticity and can undergo multiple population doublings, making DPPSC an appealing tool for tissue repair or maintenance. METHODS: DPPSC were harvested from the dental pulp of third molars extracted from young patients. Growth factors released by DPPSC were analysed using antibody arrays...
July 27, 2017: Stem Cell Research & Therapy
Afagh Alavi, Sara Esmaeili, Yalda Nilipour, Shahriar Nafissi, Seyed Hasan Tonekaboni, Gholamreza Zamani, Mahmoud Reza Ashrafi, Kimia Kahrizi, Hossein Najmabadi, Fatemeh Jazayeri
Sarcoglycanopathies (SGCs) which are caused by mutations in SGCA, SGCB, SGCG or SGCD genes are a subgroup of autosomal-recessive limb-girdle-muscular-dystrophies (LGMD2). Although frequencies of mutations in these genes are different among populations, mutations in SGCA and SGCD, respectively, have the highest and lowest frequencies in most populations. Here, we report the proportion of mutations in SGC genes among a group of Iranian SGCs patients. Clinical features and results of SGC genes screening of 25 SGCs probands are presented...
September 2017: Journal of Neurogenetics
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
G Diniz, H Tekgul, F Hazan, K Yararbas, A Tukun
Limb-girdle muscular dystrophy type 2E (LGMD-2E) is caused by autosomal recessive defects in the beta sarcoglycan (SGCB) gene located on chromosome 4q12. In this case report, the clinical findings, histopathological features and molecular genetic data in a boy with β sarcoglycanopathy are presented. An 18-month-old boy had a very high serum creatinine phosphokinase (CPK) level that was accidentally determined. The results of molecular analyses for the dystrophin gene was found to be normal. He underwent a muscle biopsy which showed dystrophic features...
December 1, 2015: Balkan Journal of Medical Genetics: BJMG
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
Z Fattahi, Z Kalhor, M Fadaee, R Vazehan, E Parsimehr, A Abolhassani, M Beheshtian, G Zamani, S Nafissi, Y Nilipour, M R Akbari, K Kahrizi, A Kariminejad, H Najmabadi
Neuromuscular diseases (NMDs) include a broad range of disorders affecting muscles, nerves and neuromuscular junctions. Their overlapping phenotypes and heterogeneous genetic nature have created challenges in diagnosis which calls for the implementation of massive parallel sequencing as a candidate strategy to increase the diagnostic yield. In this study, total of 45 patients, mostly offspring of consanguineous marriages were examined using whole exome sequencing. Data analysis was performed to identify the most probable pathogenic rare variants in known NMD genes which led to identification of causal variants for 33 out of 45 patients (73...
March 2017: Clinical Genetics
Teresa Giugliano, Marina Fanin, Marco Savarese, Giulio Piluso, Corrado Angelini, Vincenzo Nigro
A large mutation screening of 504 patients with muscular dystrophy or myopathy has been performed by next generation sequencing (NGS). Among this cohort of patients, we report a case with a severe form of muscular dystrophy with a proximal weakness in the limb-girdle muscles. Her biopsy revealed typical dystrophic features and immunohistochemistry for α- and γ-sarcoglycans showed an absent reaction, addressing the clinical diagnosis toward a sarcoglycanopathy. Considering that no causative point mutation was detected in any of the four sarcoglycan genes, we re-evaluated the NGS data by careful quantitative analysis of the specific reads mapping on the four sarcoglycan genes...
June 2016: Neuromuscular Disorders: NMD
E R Pozsgai, D A Griffin, K N Heller, J R Mendell, L R Rodino-Klapac
Limb-girdle muscular dystrophy type 2E (LGMD2E) results from mutations in the β-sarcoglycan (SGCB) gene causing loss of functional protein and concomitant loss of dystrophin-associated proteins. The disease phenotype is characterized by muscle weakness and wasting, and dystrophic features including muscle fiber necrosis, inflammation and fibrosis. The Sgcb-null mouse recapitulates the clinical phenotype with significant endomysial fibrosis providing a relevant model to test whether gene replacement will be efficacious...
January 2016: Gene Therapy
Claudio Semplicini, John Vissing, Julia R Dahlqvist, Tanya Stojkovic, Luca Bello, Nanna Witting, Morten Duno, France Leturcq, Cinzia Bertolin, Paola D'Ambrosio, Bruno Eymard, Corrado Angelini, Luisa Politano, Pascal Laforêt, Elena Pegoraro
OBJECTIVE: To determine the clinical spectrum of limb-girdle muscular dystrophy 2E (LGMD2E) and to investigate whether genetic or biochemical features can predict the phenotype of the disease. METHODS: All LGMD2E patients followed in participating centers were included. A specific clinical protocol was created, including quantitative evaluation of motor, respiratory, and cardiac function. Phenotype was defined as severe or mild if the age at loss of ambulation occurred before or after 18 years...
April 28, 2015: Neurology
Kristýna Stehlíková, Daniela Skálová, Jana Zídková, Lenka Mrázová, Petr Vondráček, Radim Mazanec, Stanislav Voháňka, Jana Haberlová, Markéta Hermanová, Josef Zámečník, Ondřej Souček, Hana Ošlejšková, Nina Dvořáčková, Pavla Solařová, Lenka Fajkusová
BACKGROUND: Autosomal recessive limb-girdle muscular dystrophies (LGMD2) include a number of disorders with heterogeneous etiology that cause predominantly weakness and wasting of the shoulder and pelvic girdle muscles. In this study, we determined the frequency of LGMD subtypes within a cohort of Czech LGMD2 patients using mutational analysis of the CAPN3, FKRP, SGCA, and ANO5 genes. METHODS: PCR-sequencing analysis; sequence capture and targeted resequencing. RESULTS: Mutations of the CAPN3 gene are the most common cause of LGMD2, and mutations in this gene were identified in 71 patients in a set of 218 Czech probands with a suspicion of LGMD2...
2014: BMC Neurology
Sara Gibertini, Simona Zanotti, Paolo Savadori, Maurizio Curcio, Simona Saredi, Franco Salerno, Francesca Andreetta, Pia Bernasconi, Renato Mantegazza, Marina Mora
The Sgcb-null mouse, with knocked-down β-sarcoglycan, develops severe muscular dystrophy as in type 2E human limb girdle muscular dystrophy. The mdx mouse, lacking dystrophin, is the most used model for Duchenne muscular dystrophy (DMD). Unlike DMD, the mdx mouse has mild clinical features and shows little fibrosis in limb muscles. To characterize ECM protein deposition and the progression of muscle fibrosis, we evaluated protein and transcript levels of collagens I, III and VI, decorin, and TGF-β1, in quadriceps and diaphragm, at 2, 4, 8, 12, 26, and 52 weeks in Sgcb-null mice, and protein levels at 12, 26, and 52 weeks in mdx mice...
May 2014: Cell and Tissue Research
Kinga I Gawlik, Johan Holmberg, Madeleine Durbeej
The adhesion molecule laminin α2 chain interacts with the dystrophin-glycoprotein complex, contributes to normal muscle function, and protects skeletal muscles from damage. Complete loss of the laminin α2 chain in mice results in a severe muscular dystrophy phenotype and death at approximately 3 weeks of age. However, it is not clear if the remaining members of the dystrophin-glycoprotein complex further protect laminin α2 chain-deficient skeletal muscle fibers from degeneration. Hence, we generated mice deficient in laminin α2 chain and dystrophin (dy(3K)/mdx) and mice devoid of laminin α2 chain and β-sarcoglycan (dy(3K)/Sgcb)...
March 2014: American Journal of Pathology
Mattia Quattrocelli, Stefania Crippa, Celeste Montecchiani, Jordi Camps, Antonia Icaro Cornaglia, Luisa Boldrin, Jennifer Morgan, Alberto Calligaro, Andrea Casasco, Aldo Orlacchio, Rik Gijsbers, Jan D'Hooge, Jaan Toelen, Stefan Janssens, Maurilio Sampaolesi
BACKGROUND: Dilated cardiomyopathy (DCM) is a leading cause of chronic morbidity and mortality in muscular dystrophy (MD) patients. Current pharmacological treatments are not yet able to counteract chronic myocardial wastage, thus novel therapies are being intensely explored. MicroRNAs have been implicated as fine regulators of cardiomyopathic progression. Previously, miR-669a downregulation has been linked to the severe DCM progression displayed by Sgcb-null dystrophic mice. However, the impact of long-term overexpression of miR-669a on muscle structure and functionality of the dystrophic heart is yet unknown...
August 20, 2013: Journal of the American Heart Association
Karin Y van Spaendonck-Zwarts, Ingrid A W van Rijsingen, Maarten P van den Berg, Ronald H Lekanne Deprez, Jan G Post, Anneke M van Mil, Folkert W Asselbergs, Imke Christiaans, Irene M van Langen, Arthur A M Wilde, Rudolf A de Boer, Jan D H Jongbloed, Yigal M Pinto, J Peter van Tintelen
AIMS: With more than 40 dilated cardiomyopathy (DCM)-related genes known, genetic analysis of patients with idiopathic DCM is costly and time-consuming. We describe the yield from genetic analysis in DCM patients in a large Dutch cohort. METHODS AND RESULTS: We collected cardiological and neurological evaluations, family screenings, and genetic analyses for 418 index patients with idiopathic DCM. We identified 35 (putative) pathogenic mutations in 82 index patients (20%)...
June 2013: European Journal of Heart Failure
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