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https://www.readbyqxmd.com/read/29137374/hypoxia-favors-myosin-heavy-chain-beta-gene-expression-in-an-hif-1alpha-dependent-manner
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/28864942/a%C3%A2-dutch-myh7-founder-mutation-p-asn1918lys-is-associated-with-early-onset-cardiomyopathy-and-congenital-heart-defects
#14
I H M van der Linde, Y L Hiemstra, R Bökenkamp, A M van Mil, M H Breuning, C Ruivenkamp, S W Ten Broeke, R F Veldkamp, J I van Waning, M A van Slegtenhorst, K Y van Spaendonck-Zwarts, R H Lekanne Deprez, J C Herkert, L Boven, P A van der Zwaag, J D H Jongbloed, M Bootsma, D Q C M Barge-Schaapveld
BACKGROUND: Mutations in the myosin heavy chain 7 (MYH7) gene commonly cause cardiomyopathy but are less frequently associated with congenital heart defects. METHODS: In this study, we describe a mutation in the MYH7 gene, c. 5754C > G; p. (Asn1918Lys), present in 15 probands and 65 family members. RESULTS: Of the 80 carriers (age range 0-88 years), 46 (57.5%) had cardiomyopathy (mainly dilated cardiomyopathy (DCM)) and seven (8...
December 2017: Netherlands Heart Journal
https://www.readbyqxmd.com/read/28855170/a-wide-and-specific-spectrum-of-genetic-variants-and-genotype-phenotype-correlations-revealed-by-next-generation-sequencing-in-patients-with-left-ventricular-noncompaction
#15
Ce Wang, Yukiko Hata, Keiichi Hirono, Asami Takasaki, Sayaka Watanabe Ozawa, Hideyuki Nakaoka, Kazuyoshi Saito, Nariaki Miyao, Mako Okabe, Keijiro Ibuki, Naoki Nishida, Hideki Origasa, Xianyi Yu, Neil E Bowles, Fukiko Ichida
BACKGROUND: Left ventricular noncompaction (LVNC) has since been classified as a primary genetic cardiomyopathy, but the genetic basis is not fully evaluated. The aim of the present study was to identify the genetic spectrum using next-generation sequencing and to evaluate genotype-phenotype correlations in LVNC patients. METHODS AND RESULTS: Using next-generation sequencing, we targeted and sequenced 73 genes related to cardiomyopathy in 102 unrelated LVNC patients...
August 30, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28840316/clinical-outcomes-associated-with-sarcomere-mutations-in-hypertrophic-cardiomyopathy-a-meta-analysis-on-7675-individuals
#16
Farbod Sedaghat-Hamedani, Elham Kayvanpour, Oguz Firat Tugrul, Alan Lai, Ali Amr, Jan Haas, Tanja Proctor, Philipp Ehlermann, Katrin Jensen, Hugo A Katus, Benjamin Meder
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease, which goes along with increased risk for sudden cardiac death (SCD). Despite the knowledge about the different causal genes, the relationship between individual genotypes and phenotypes is incomplete. METHODS AND RESULTS: We retrieved PubMed/Medline literatures on genotype-phenotype associations in patients with HCM and mutations in MYBPC3, MYH7, TNNT2, and TNNI3. Altogether, 51 studies with 7675 HCM patients were included in our meta-analysis...
August 24, 2017: Clinical Research in Cardiology: Official Journal of the German Cardiac Society
https://www.readbyqxmd.com/read/28838967/molecular-regulation-of-high-muscle-mass-in-developing-blonde-d-aquitaine-cattle-foetuses
#17
Isabelle Cassar-Malek, Céline Boby, Brigitte Picard, Antonio Reverter, Nicholas J Hudson
The Blonde d'Aquitaine (BA) is a French cattle breed with enhanced muscularity, partly attributable to a MSTN mutation. The BA m. Semitendinosus has a faster muscle fibre isoform phenotype comprising a higher proportion of fast type IIX fibres compared to age-matched Charolais (CH). To better understand the molecular network of modifications in BA compared to CH muscle, we assayed the transcriptomes of the m. Semitendinosus at 110, 180, 210 and 260 days postconception (dpc). We used a combination of differential expression (DE) and regulatory impact factors (RIF) to compare and contrast muscle gene expression between the breeds...
October 15, 2017: Biology Open
https://www.readbyqxmd.com/read/28815794/finding-the-candidate-sequence-variants-for-diagnosis-of-hypertrophic-cardiomyopathy-in-east-slovak-patients
#18
Michaela Zigova, Jarmila Bernasovska, Iveta Boronova, Marta Mydlarova Blascakova, Jan Kmec
BACKGROUND: Hypertrophic cardiomyopathy is a heterogeneous myocardial disease. Mutations appearing in several genes might be a potential cause of the disease. The aim of the study was to analyze selected exons of the sarcomeric and non-sarcomeric genes, with the purpose to identify potential candidate genetic variants and to understand etiopathogenetic mechanisms of hypertrophic cardiomyopathy in East Slovak patients. METHODS: This study recruited 23 unrelated patients with hypertrophic cardiomyopathy, namely, 13 men and 10 women (mean age of 58...
August 16, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28806941/androgen-receptor-is-expressed-in-mouse-cardiomyocytes-at-prenatal-and-early-postnatal-developmental-stages
#19
Enrique Pedernera, María José Gómora, Iván Meneses, Marlon De Ita, Carmen Méndez
BACKGROUND: Previous studies show that androgens are involved in hypertrophy and excitability of cardiomyocytes and that their effects are mediated through their receptor. The aim of this study was to evaluate the presence of androgen receptor (AR) in mouse heart during prenatal and early postnatal stages. RESULTS: The expression of AR and related genes, alpha myosin heavy chain -Myh6-, beta myosin heavy chain -Myh7- and atrial natriuretic factor -Nppa- was simultaneously evaluated by semiquantitative RT-PCR...
August 14, 2017: BMC Physiology
https://www.readbyqxmd.com/read/28794400/tbx18-positive-cells-differentiated-from-murine-es-cells-serve-as-proepicardial-progenitors-to-give-rise-to-vascular-smooth-muscle-cells-and-fibroblasts
#20
Nobuhito Ikeda, Natsumi Nakazawa, Yasutaka Kurata, Hisako Yaura, Fikri Taufiq, Hiroyuki Minato, Akio Yoshida, Haruaki Ninomiya, Yuji Nakayama, Masanari Kuwabara, Yasuaki Shirayoshi, Ichiro Hisatome
Proepicardium (PE) cells generate cardiac fibroblasts, smooth muscle cells (SMCs) and endothelial cells that form coronary arteries. T-box18 (Tbx18) is a well-known marker of PE cells and epicardium. We examined whether Tbx18-positive cells differentiated from murine embryonic stem (ES) cells serve as PE progenitors to give rise to vascular SMCs and fibroblasts. To collect Tbx18-positive cells, we established Tbx18-EGFP knock-in mouse ES cells using the CRISPR/Cas9 system. We harvested the Tbx18-EGFP-positive cells on day 8, 10 and 14 after the initiation of differentiation; Tbx18 mRNA was enriched on day 8 to 14 and Snai2 mRNA was enriched on day 8 and 10, indicating successful collection of Tbx18-positive cells...
2017: Biomedical Research
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