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https://www.readbyqxmd.com/read/29333723/nandrolone-induced-nuclear-accumulation-of-myod-protein-is-mediated-by-numb-a-notch-inhibitor-in-c2c12-myoblasts
#1
Xin-Hua Liu, Rita De Gasperi, William A Bauman, Christopher P Cardozo
Signaling via the androgen receptor (AR) stimulates myogenic progenitor differentiation. In addition, myogenic differentiation factor D (MyoD) and Numb, a Notch inhibitor, play key roles in regulating myogenic differentiation. Nandrolone, an anabolic steroid, upregulates both MyoD and Numb expression in myogenic cells. However, the molecular mechanisms by which MyoD is upregulated by nandrolone are unclear. Moreover, the potential crosstalk between nandrolone, MyoD, and Numb is not well understood. With these considerations in mind, we examined the effects of nandrolone on the expression of MyoD mRNA and protein, and determined the interactions of MyoD and Numb in the presence or absence of nandrolone in differentiating C2C12 myoblasts...
January 2018: Physiological Reports
https://www.readbyqxmd.com/read/29300372/adaptation-and-validation-of-the-acmg-amp-variant-classification-framework-for-myh7-associated-inherited-cardiomyopathies-recommendations-by-clingen-s-inherited-cardiomyopathy-expert-panel
#2
Melissa A Kelly, Colleen Caleshu, Ana Morales, Jillian Buchan, Zena Wolf, Steven M Harrison, Stuart Cook, Mitchell W Dillon, John Garcia, Eden Haverfield, Jan D H Jongbloed, Daniela Macaya, Arjun Manrai, Kate Orland, Gabriele Richard, Katherine Spoonamore, Matthew Thomas, Kate Thomson, Lisa M Vincent, Roddy Walsh, Hugh Watkins, Nicola Whiffin, Jodie Ingles, J Peter van Tintelen, Christopher Semsarian, James S Ware, Ray Hershberger, Birgit Funke
PurposeIntegrating genomic sequencing in clinical care requires standardization of variant interpretation practices. The Clinical Genome Resource has established expert panels to adapt the American College of Medical Genetics and Genomics/Association for Molecular Pathology classification framework for specific genes and diseases. The Cardiomyopathy Expert Panel selected MYH7, a key contributor to inherited cardiomyopathies, as a pilot gene to develop a broadly applicable approach.MethodsExpert revisions were tested with 60 variants using a structured double review by pairs of clinical and diagnostic laboratory experts...
January 4, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29248012/correction-to-novel-phenotypic-variant-in-the-myh7-spectrum-due-to-a-stop-loss-mutation-in-the-c-terminal-region-a-case-report
#3
Zsolt Bánfai, Kinga Hadzsiev, Endre Pál, Katalin Komlósi, Márton Melegh, László Balikó, Béla Melegh
Following publication of the original article [1], the authors requested a correction to the details of one of the co-authors.
December 16, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29244159/pre-clinical-model-of-severe-glutathione-peroxidase-3-deficiency-and-chronic-kidney-disease-results-in-coronary-artery-thrombosis-and-depressed-left-ventricular-function
#4
Paul Pang, Molly Abbott, Malyun Abdi, Quynh-Anh Fucci, Nikita Chauhan, Murti Mistri, Brandon Proctor, Matthew Chin, Bin Wang, Wenqing Yin, Tzong-Shi Lu, Arvin Halim, Kenneth Lim, Diane E Handy, Joseph Loscalzo, Andrew M Siedlecki
Background: Chronic kidney disease (CKD) patients have deficient levels of glutathione peroxidase-3 (GPx3). We hypothesized that GPx3 deficiency may lead to cardiovascular disease in the presence of chronic kidney disease due to an accumulation of reactive oxygen species and decreased microvascular perfusion of the myocardium. Methods: To isolate the exclusive effect of GPx3 deficiency in kidney disease-induced cardiac disease, we studied the GPx3 knockout mouse strain (GPx3-/-) in the setting of surgery-induced CKD...
December 13, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/29237678/myh7-rare-variant-in-a-family-with-double-chambered-left-ventricle
#5
Jing Wang, Xin Zhang, Xi Wang, Chuchu Wang, Fangyun Wang, Binbin Wang
No abstract text is available yet for this article.
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29206857/z-disc-protein-chapb-induces-cardiomyopathy-and-contractile-dysfunction-in-the-postnatal-heart
#6
Willemijn van Eldik, Brigit den Adel, Jantine Monshouwer-Kloots, Daniela Salvatori, Saskia Maas, Ingeborg van der Made, Esther E Creemers, Derk Frank, Norbert Frey, Nicky Boontje, Jolanda van der Velden, Paul Steendijk, Christine Mummery, Robert Passier, Abdelaziz Beqqali
AIMS: The Z-disc is a crucial structure of the sarcomere and is implicated in mechanosensation/transduction. Dysregulation of Z-disc proteins often result in cardiomyopathy. We have previously shown that the Z-disc protein Cytoskeletal Heart-enriched Actin-associated Protein (CHAP) is essential for cardiac and skeletal muscle development. Furthermore, the CHAP gene has been associated with atrial fibrillation in humans. Here, we studied the misregulated expression of CHAP isoforms in heart disease...
2017: PloS One
https://www.readbyqxmd.com/read/29170849/myh7-mutation-associated-with-two-phenotypes-of-myopathy
#7
Nan Li, Zhe Zhao, Hongrui Shen, Qi Bing, Xuan Guo, Jing Hu
The mutations of MYH7 (slow skeletal/β-cardiac myosin heavy chain) are commonly found in familial hypertrophic/dilated cardiomyopathy, and also can cause Laing early-onset distal myopathy (LDM), myosin storage myopathy (MSM), and congenital myopathy with fiber-type disproportion (CFTD). Here we report two cases whose diagnosis was hereditary myopathy according to clinical feature and muscle pathology analysis. High-throughput genomic sequencing (next generation sequencing) was performed to validate the diagnosis...
November 24, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/29137374/hypoxia-favors-myosin-heavy-chain-beta-gene-expression-in-an-hif-1alpha-dependent-manner
#8
Lucia Binó, Jiřina Procházková, Katarzyna Anna Radaszkiewicz, Jan Kučera, Jana Kudová, Jiří Pacherník, Lukáš Kubala
The potentiation of the naturally limited regenerative capacity of the heart is dependent on an understanding of the mechanisms that are activated in response to pathological conditions such as hypoxia. Under these conditions, the expression of genes suggested to support cardiomyocyte survival and heart adaptation is triggered. Particularly important are changes in the expression of myosin heavy chain (MHC) isoforms. We propose here that alterations in the expression profiles of MHC genes are induced in response to hypoxia and are primarily mediated by hypoxia inducible factor (HIF)...
October 13, 2017: Oncotarget
https://www.readbyqxmd.com/read/29121657/hypertrophic-cardiomyopathy-clinical-phenotype-is-independent-of-gene-mutation-and-mutation-dosage
#9
Shiv Kumar Viswanathan, Heather K Sanders, James W McNamara, Aravindakshan Jagadeesan, Arshad Jahangir, A Jamil Tajik, Sakthivel Sadayappan
Over 1,500 gene mutations are known to cause hypertrophic cardiomyopathy (HCM). Previous studies suggest that cardiac β-myosin heavy chain (MYH7) gene mutations are commonly associated with a more severe phenotype, compared to cardiac myosin binding protein-C (MYBPC3) gene mutations with milder phenotype, incomplete penetrance and later age of onset. Compound mutations can worsen the phenotype. This study aimed to validate these comparative differences in a large cohort of individuals and families with HCM...
2017: PloS One
https://www.readbyqxmd.com/read/29101517/intrinsic-myh7-expression-regulation-contributes-to-tissue-level-allelic-imbalance-in-hypertrophic-cardiomyopathy
#10
Judith Montag, Mandy Syring, Julia Rose, Anna-Lena Weber, Pia Ernstberger, Anne-Kathrin Mayer, Edgar Becker, Britta Keyser, Cristobal Dos Remedios, Andreas Perrot, Jolanda van der Velden, Antonio Francino, Francesco Navarro-Lopez, Carolyn Yung Ho, Bernhard Brenner, Theresia Kraft
HCM, the most common inherited cardiac disease, is mainly caused by mutations in sarcomeric genes. More than a third of the patients are heterozygous for mutations in the MYH7 gene encoding for the β-myosin heavy chain. In HCM-patients, expression of the mutant and the wildtype allele can be unequal, thus leading to fractions of mutant and wildtype mRNA and protein which deviate from 1:1. This so-called allelic imbalance was detected in whole tissue samples but also in individual cells. There is evidence that the severity of HCM not only depends on the functional effect of the mutation itself, but also on the fraction of mutant protein in the myocardial tissue...
November 3, 2017: Journal of Muscle Research and Cell Motility
https://www.readbyqxmd.com/read/29093449/abnormal-contractility-in-human-heart-myofibrils-from-patients-with-dilated-cardiomyopathy-due-to-mutations-in-ttn-and-contractile-protein-genes
#11
Petr G Vikhorev, Natalia Smoktunowicz, Alex B Munster, O'Neal Copeland, Sawa Kostin, Cecile Montgiraud, Andrew E Messer, Mohammad R Toliat, Amy Li, Cristobal G Dos Remedios, Sean Lal, Cheavar A Blair, Kenneth S Campbell, Maya Guglin, Ralph Knoll, Steven B Marston
Dilated cardiomyopathy (DCM) is an important cause of heart failure. Single gene mutations in at least 50 genes have been proposed to account for 25-50% of DCM cases and up to 25% of inherited DCM has been attributed to truncating mutations in the sarcomeric structural protein titin (TTNtv). Whilst the primary molecular mechanism of some DCM-associated mutations in the contractile apparatus has been studied in vitro and in transgenic mice, the contractile defect in human heart muscle has not been studied. In this study we isolated cardiac myofibrils from 3 TTNtv mutants, and 3 with contractile protein mutations (TNNI3 K36Q, TNNC1 G159D and MYH7 E1426K) and measured their contractility and passive stiffness in comparison with donor heart muscle as a control...
November 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29070483/research-progress-of-myosin-heavy-chain-genes-in-human-genetic-diseases
#12
Yi-Min He, Ming-Min Gu
Myosins constitute a large superfamily proteins, which convert chemical energy, through ATP hydrolysis, to mechanical force for diverse cellular movements, such as cell migration and muscle contraction. The class Ⅱ myosin forms the filaments in muscle and non-muscle cells as a hexameric protein complex, consisting of two myosin heavy chain (MyHC) subunits and two pairs of non-identical light chain subunits. There are several MyHC isoforms encoded by different genes of the MYH family in humans. At present, distinct mutations in different genes of the MYH family are associated with various human genetic diseases...
October 20, 2017: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/29064177/microrna-499-gene-expression-in-patients-on-hemodialysis-with-cardiovascular-complications
#13
Magdi El Sharkawy, Amr Mohab, Haitham Ezzat
BACKGROUND: MicroRNA (miRNA) 499 is an evolutionarily conserved muscle-specific miRNA that is encoded by an intron of the myh7 gene and is likely to play a role in myosin gene regulation. It has been shown to be involved in inhibiting apoptosis and myocardial infarction induced by ischemia and anoxia. It is unknown whether levels of miRNAs are affected in patients undergoing hemodialysis. OBJECTIVE: The aim of this study was to assess circulating levels of miRNA 499 in hemodialysis patients and whether the levels are affected by dialyzer membranes (high flux vs...
October 2017: Hemodialysis International
https://www.readbyqxmd.com/read/29053178/utility-of-genetics-for-risk-stratification-in-pediatric-hypertrophic-cardiomyopathy
#14
J Mathew, L Zahavich, M Lafreniere-Roula, J Wilson, K George, L Benson, S Bowdin, S Mital
Children with hypertrophic cardiomyopathy (HCM) experience sudden cardiac death (SCD) and other life-threatening events. We assessed if affected gene and variant burden predict outcomes. Patients <18 years old with primary HCM with a pathogenic variant or variant of uncertain significance in cardiomyopathy genes were included. Association of gene and variant number and type with freedom from major adverse cardiac events (MACE) i.e. ICD insertion, myectomy, aborted SCD, transplantation or death, was assessed by Cox regression...
October 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29052809/the-contribution-of-mutations-in-myh7-to-the-onset-of-cardiomyopathy
#15
EDITORIAL
I A E Bollen, J van der Velden
No abstract text is available yet for this article.
December 2017: Netherlands Heart Journal
https://www.readbyqxmd.com/read/29024827/left-ventricular-non-compaction-with-ebstein-anomaly-attributed-to-a-tpm1-mutation
#16
Aleksandra Nijak, Maaike Alaerts, Cuno Kuiperi, Anniek Corveleyn, Bert Suys, Bernard Paelinck, Johan Saenen, Emeline Van Craenenbroeck, Lut Van Laer, Bart Loeys, Aline Verstraeten
Left ventricular non-compaction (cardiomyopathy) (LVN(C)) is a rare hereditary cardiac condition, resulting from abnormal embryonic myocardial development. While it mostly occurs as an isolated condition, association with other cardiovascular manifestations such as Ebstein anomaly (EA) has been reported. This congenital heart defect is characterized by downward displacement of the tricuspid valve and leads to diminished ventricular size and function. In an autosomal dominant LVN(C) family consisting of five affected individuals, of which two also presented with EA and three with mitral valve insufficiency, we pursued the genetic disease cause using whole exome sequencing (WES)...
October 9, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28927399/novel-phenotypic-variant-in-the-myh7-spectrum-due-to-a-stop-loss-mutation-in-the-c-terminal-region-a-case-report
#17
Zsolt Bánfai, Kinga Hadzsiev, Endre Pál, Katalin Komlósi, Márton Melegh, László Balikó, Béla Melegh
BACKGROUND: Defects of the slow myosin heavy chain isoform coding MYH7 gene primarily cause skeletal myopathies including Laing Distal Myopathy, Myosin Storage Myopathy and are also responsible for cardiomyopathies. Scapuloperoneal and limb-girdle muscle weakness, congenital fiber type disproportion, multi-minicore disease were also reported in connection of MYH7. Pathogeneses of the defects in the head and proximal rod region of the protein are well described. However, the C-terminal mutations of the MYH7 gene are less known...
September 19, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28927343/a-triple-stranded-g-quadruplex-formation-in-the-promoter-region-of-human-myosin-%C3%AE-myh7-gene
#18
Anju Singh, Shrikant Kukreti
Regulatory regions in human genome, enriched in guanine-rich DNA sequences have the propensity to fold into G-quadruplex structures. On exploring the genome for search of G-tracts, it was interesting to find that promoter of Human Myosin Gene (MYH7) contains a conserved 23-mer G-rich sequence (HM-23). Mutations in this gene are associated with familial cardiomyopathy. Enrichment of MYH7 gene in G-rich sequences could possibly play a critical role in its regulation. We used polyacrylamide gel electrophoresis (PAGE), UV-Thermal denaturation (UV-Tm) and Circular Dichroism (CD), to demonstrate the formation of a G-quadruplex by 23-mer G-rich sequence HM23 in promoter location of MYH7 gene...
September 19, 2017: Journal of Biomolecular Structure & Dynamics
https://www.readbyqxmd.com/read/28912181/hypertrophic-cardiomyopathy-genetics-pathogenesis-clinical-manifestations-diagnosis-and-therapy
#19
REVIEW
Ali J Marian, Eugene Braunwald
Hypertrophic cardiomyopathy (HCM) is a genetic disorder that is characterized by left ventricular hypertrophy unexplained by secondary causes and a nondilated left ventricle with preserved or increased ejection fraction. It is commonly asymmetrical with the most severe hypertrophy involving the basal interventricular septum. Left ventricular outflow tract obstruction is present at rest in about one third of the patients and can be provoked in another third. The histological features of HCM include myocyte hypertrophy and disarray, as well as interstitial fibrosis...
September 15, 2017: Circulation Research
https://www.readbyqxmd.com/read/28866666/the-cumulative-effects-of-the-myh7-v878a-and-cacna1c-a1594v-mutations-in-a-chinese-family-with-hypertrophic-cardiomyopathy
#20
Bo Wang, Rui-Qi Guo, Jing Wang, Fan Yang, Lei Zuo, Ying Liu, Hong Shao, Yan Ju, Chao Sun, Lei Xu, Yan-Min Zhang, Li-Feng Wang, Li-Wen Liu
AIMS: We investigated the pathogenesis of MYH7-V878A and CACNA1C-A1594V mutations in a Chinese family with hypertrophic cardiomyopathy. METHODS: Clinical, electrocardiographic (ECG), echocardiographic, and cardiac magnetic resonance (CMR) examinations of members of a Chinese family were followed by exon and boarding intron analyses of 96 genes in the proband using second-generation sequencing. We confirmed the mutations by bidirectional Sanger sequencing in the members and in 300 healthy controls...
September 2, 2017: Cardiology
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