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Uluç Yiç, Gülden Diniz, Filiz Hazan, Hülya Sevcan Daimagüler, Bahar Toklu Baysal, Figen Baydan, Gülçin Akinci, Aycan Ünalp, Gül Aktan, Erhan Bayram, Semra Hiz, Cem Paketçi, Derya Okur, Erdener Özer, Ayça Ersen Danyeli, Muzaffer Polat, Gökhan Uyanik, Sebahattin Çirak
The aim of this study is to analyze the epidemiology of the clinical and genetic features of childhood-onset limb-girdle muscular dystrophies (LGMD) in the Aegean part of Turkey. In total fifty-six pediatric cases with LGMD followed in four different pediatric neurology departments in the Aegean region of Turkey were evaluated. Among them, LGMD2C was the most common followed by LGMD2A, LGMD2D, and LGMD2F with equal frequencies. In twenty-eight patients (50%) the diagnosis could be confirmed by genetic analysis, where SGCG proved to be disease-causing in most of the cases...
September 2018: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
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
Sujoy Ghosh, Monalisa Hota, Xiaoran Chai, Jencee Kiranya, Palash Ghosh, Zihong He, Jonathan J Ruiz-Ramie, Mark A Sarzynski, Claude Bouchard
Intrinsic cardiorespiratory fitness (CRF) is defined as the level of CRF in the sedentary state. There are large individual differences in intrinsic CRF among sedentary adults. The physiology of variability in CRF has received much attention, but little is known about the genetic and molecular mechanisms that impact intrinsic CRF. These issues were explored in the present study by interrogating intrinsic CRF-associated DNA sequence variation and skeletal muscle gene expression data from the HERITAGE Family Study through an integrative bioinformatics guided approach...
January 3, 2019: Journal of Applied Physiology
Jonas B Nielsen, Rosa B Thorolfsdottir, Lars G Fritsche, Wei Zhou, Morten W Skov, Sarah E Graham, Todd J Herron, Shane McCarthy, Ellen M Schmidt, Gardar Sveinbjornsson, Ida Surakka, Michael R Mathis, Masatoshi Yamazaki, Ryan D Crawford, Maiken E Gabrielsen, Anne Heidi Skogholt, Oddgeir L Holmen, Maoxuan Lin, Brooke N Wolford, Rounak Dey, Håvard Dalen, Patrick Sulem, Jonathan H Chung, Joshua D Backman, David O Arnar, Unnur Thorsteinsdottir, Aris Baras, Colm O'Dushlaine, Anders G Holst, Xiaoquan Wen, Whitney Hornsby, Frederick E Dewey, Michael Boehnke, Sachin Kheterpal, Bhramar Mukherjee, Seunggeun Lee, Hyun M Kang, Hilma Holm, Jacob Kitzman, Jordan A Shavit, José Jalife, Chad M Brummett, Tanya M Teslovich, David J Carey, Daniel F Gudbjartsson, Kari Stefansson, Gonçalo R Abecasis, Kristian Hveem, Cristen J Willer
To identify genetic variation underlying atrial fibrillation, the most common cardiac arrhythmia, we performed a genome-wide association study of >1,000,000 people, including 60,620 atrial fibrillation cases and 970,216 controls. We identified 142 independent risk variants at 111 loci and prioritized 151 functional candidate genes likely to be involved in atrial fibrillation. Many of the identified risk variants fall near genes where more deleterious mutations have been reported to cause serious heart defects in humans (GATA4, MYH6, NKX2-5, PITX2, TBX5)1 , or near genes important for striated muscle function and integrity (for example, CFL2, MYH7, PKP2, RBM20, SGCG, SSPN)...
September 2018: Nature Genetics
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
James A Timmons, Philip J Atherton, Ola Larsson, Sanjana Sood, Ilya O Blokhin, Robert J Brogan, Claude-Henry Volmar, Andrea R Josse, Cris Slentz, Claes Wahlestedt, Stuart M Phillips, Bethan E Phillips, Iain J Gallagher, William E Kraus
Genome-wide association studies (GWAS), relying on hundreds of thousands of individuals, have revealed >200 genomic loci linked to metabolic disease (MD). Loss of insulin sensitivity (IS) is a key component of MD and we hypothesized that discovery of a robust IS transcriptome would help reveal the underlying genomic structure of MD. Using 1,012 human skeletal muscle samples, detailed physiology and a tissue-optimized approach for the quantification of coding (>18,000) and non-coding (>15,000) RNA (ncRNA), we identified 332 fasting IS-related genes (CORE-IS)...
September 6, 2018: Nucleic Acids Research
Eugene J Wyatt, Alexis R Demonbreun, Ellis Y Kim, Megan J Puckelwartz, Andy H Vo, Lisa M Dellefave-Castillo, Quan Q Gao, Mariz Vainzof, Rita C M Pavanello, Mayana Zatz, Elizabeth M McNally
Exon skipping uses chemically modified antisense oligonucleotides to modulate RNA splicing. Therapeutically, exon skipping can bypass mutations and restore reading frame disruption by generating internally truncated, functional proteins to rescue the loss of native gene expression. Limb-girdle muscular dystrophy type 2C is caused by autosomal recessive mutations in the SGCG gene, which encodes the dystrophin-associated protein γ-sarcoglycan. The most common SGCG mutations disrupt the transcript reading frame abrogating γ-sarcoglycan protein expression...
May 3, 2018: JCI Insight
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
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
Meijun Chen, Xuelong Zhang, Qingxiao Fang, Tongtong Wang, Tingting Li, Hong Qiao
An Indian study recently observed three new loci: rs9552911 in the SGCG, rs1593304 near PLXNA4 and rs4858889 in SCAP associated with type 2 diabetes mellitus (T2DM) in a south Asian population. The present study aimed to validate these findings in a Chinese population. We genotyped the above three single-nucleotide polymorphisms (SNPs), rs9552911, rs1593304, and rs4858889, in a group of 1,972 Chinese individuals, comprising of 966 type 2 diabetic patients and 976 controls. Anthropometric variables and biochemical traits were measured in all the participants...
January 2017: Experimental and Therapeutic Medicine
Ahlke Heydemann
INTRODUCTION: Limb-girdle muscular dystrophy type 2C (LGMD-2C) is caused by mutations in γ-sarcoglycan and is a devastating, progressive, and fully lethal human muscle-wasting disease that has no 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 was expected to target LGMD-2C disease progression at 2 key positions by reducing chronic inflammation and fibrosis...
September 2017: Muscle & Nerve
Imene Dalichaouche, Yamina Sifi, Carinne Roudaut, Karima Sifi, Abdelmadjid Hamri, Leila Rouabah, Noureddine Abadi, Isabelle Richard
INTRODUCTION: We report the genetic analysis of a large series of 76 Algerian patients from 65 unrelated families who presented with early onset severe muscular dystrophy and a clinical phenotype resembling limb-girdle muscular dystrophy type 2C. METHODS: To define the genetic basis of the diseases in these families, we undertook a series of analyses of the γ-sarcoglycan (SGCG) and DMD genes. RESULTS: Fifteen families were shown to carry SGCG variants...
July 2017: Muscle & Nerve
Hemakumar M Reddy, Kyung-Ah Cho, Monkol Lek, Elicia Estrella, Elise Valkanas, Michael D Jones, Satomi Mitsuhashi, Basil T Darras, Anthony A Amato, Hart Gw Lidov, Catherine A Brownstein, David M Margulies, Timothy W Yu, Mustafa A Salih, Louis M Kunkel, Daniel G MacArthur, Peter B Kang
The current study characterizes a cohort of limb-girdle muscular dystrophy (LGMD) in the United States using whole-exome sequencing. Fifty-five families affected by LGMD were recruited using an institutionally approved protocol. Exome sequencing was performed on probands and selected parental samples. Pathogenic mutations and cosegregation patterns were confirmed by Sanger sequencing. Twenty-two families (40%) had novel and previously reported pathogenic mutations, primarily in LGMD genes, and also in genes for Duchenne muscular dystrophy, facioscapulohumeral muscular dystrophy, congenital myopathy, myofibrillar myopathy, inclusion body myopathy and Pompe disease...
February 2017: Journal of Human Genetics
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
Qinghai Zeng, Qi Wang, Xiang Chen, Kun Xia, Jintian Tang, Xiao Zhou, Yan Cheng, Yong Chen, Lihua Huang, Hong Xiang, Ke Cao, Jianda Zhou
BACKGROUND: Long non-coding RNAs (lncRNAs) have close relationships with oxidative stress, nutritional deficiency, DNA damage and other types of cellular stress responses. Previous studies have demonstrated that some non-coding RNAs in melanocytes such as microRNAs can change and contribute to the synthesis of melanin or the development of melanoma after stimulation with UV. However, as an important component of non-coding RNAs, it is unclear what changes occur in lncRNAs during UV-induced stress responses in melanocytes...
January 2016: Journal of Dermatological Science
Nathan W Roberts, Jenan Holley-Cuthrell, Magdalis Gonzalez-Vega, Aaron J Mull, Ahlke Heydemann
Mouse models have provided an essential platform to investigate facets of human diseases, from etiology, diagnosis, and prognosis, to potential treatments. Muscular dystrophy (MD) is the most common human genetic disease occurring in approximately 1 in 2500 births. The mdx mouse, which is dystrophin-deficient, has long been used to model this disease. However, this mouse strain displays a rather mild disease course compared to human patients. The mdx mice have been bred to additional genetically engineered mice to worsen the disease...
2015: BioMed Research International
Brandon B Gardner, Kayleigh A Swaggart, Gene Kim, Sydeaka Watson, Elizabeth M McNally
BACKGROUND: The muscular dystrophies target muscle groups differentially. In mouse models of muscular dystrophy, notably the mdx model of Duchenne Muscular Dystrophy, the diaphragm muscle shows marked fibrosis and at an earlier age than other muscle groups, more reflective of the histopathology seen in human muscular dystrophy. METHODS: Using a mouse model of limb girdle muscular dystrophy, the Sgcg mouse, we compared muscle pathology across different muscle groups and heart...
2015: Journal of Neuromuscular Diseases
Samiah A Al-Zaidy, Vinod Malik, Kelley Kneile, Xiomara Q Rosales, Ana Maria Gomez, Sarah Lewis, Sayaka Hashimoto, Julie Gastier-Foster, Peter Kang, Basil Darras, Louis Kunkel, Jose Carlo, Zarife Sahenk, Steven A Moore, Robert Pyatt, Jerry R Mendell
Limb-girdle muscular dystrophy type 2C (LGMD2C) is considered one of the severe forms of childhood-onset muscular dystrophy. The geographical distribution of founder mutations in the SGCG gene has a prominent effect on the prevalence of LGMD2C in certain populations. The aim of this study was to confirm the hypothesis that the c.787G>A (p.E263K) mutation in the SGCG gene is a founder mutation among Puerto Rican Hispanics and to characterize the associated clinical and immunohistochemical phenotype. Genotyping of six polymorphic microsatellite markers internal to (D13S232) and flanking (D13S175, D13S292, D13S787, D13S1243, D13S283) the SGCG gene was performed on four unrelated Puerto Rican patients with LGMD2C...
March 2015: Molecular Genetics & Genomic Medicine
Anne-Cécile Boulay, Bruno Saubaméa, Salvatore Cisternino, Virginie Mignon, Aurélien Mazeraud, Laurent Jourdren, Corinne Blugeon, Martine Cohen-Salmon
Astrocytes, the most prominent glial cell type in the brain, send specialized processes called endfeet, around blood vessels and express a large molecular repertoire regulating the cerebrovascular system physiology. One of the most striking properties of astrocyte endfeet is their enrichment in gap junction proteins Connexin 43 and 30 (Cx43 and Cx30) allowing in particular for direct intercellular trafficking of ions and small signaling molecules through perivascular astroglial networks. In this study, we addressed the specific role of Cx30 at the gliovascular interface...
2015: Frontiers in Cellular Neuroscience
Jeffery A Goldstein, Sasha Bogdanovich, Anastasia Beiriger, Lisa M Wren, Ann E Rossi, Quan Q Gao, Brandon B Gardner, Judy U Earley, Jeffery D Molkentin, Elizabeth M McNally
Disruption of the dystrophin complex causes muscle injury, dysfunction, cell death and fibrosis. Excess transforming growth factor (TGF) β signaling has been described in human muscular dystrophy and animal models, where it is thought to relate to the progressive fibrosis that characterizes dystrophic muscle. We now found that canonical TGFβ signaling acutely increases when dystrophic muscle is stimulated to contract. Muscle lacking the dystrophin-associated protein γ-sarcoglycan (Sgcg null) was subjected to a lengthening protocol to produce maximal muscle injury, which produced rapid accumulation of nuclear phosphorylated SMAD2/3...
December 20, 2014: Human Molecular Genetics
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