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Sarcomeric cardiomyopathy

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https://www.readbyqxmd.com/read/28104714/long-term-biased-%C3%AE-arrestin-signaling-improves-cardiac-structure-and-function-in-dilated-cardiomyopathy
#1
David M Ryba, Jieli Li, Conrad L Cowan, Brenda Russell, Beata M Wolska, R John Solaro
BACKGROUND: -Biased agonism of the angiotensin receptor (AT1R) is known to promote cardiac contractility. Our laboratory indicated that these effects may be due to changes at the level of the myofilaments. However, these signaling mechanisms remain unknown. As a common finding in dilated cardiomyopathy (DCM) is a reduction in the myofilament-Ca(2+)-response, we hypothesized that β-arrestin signaling would increase myofilament-Ca(2+)-responsiveness in a model of familial DCM and improve cardiac function and morphology...
January 19, 2017: Circulation
https://www.readbyqxmd.com/read/28090637/diltiazem-prevents-stress-induced-contractile-deficits-in-cardiomyocytes-but-does-not-reverse-the-cardiomyopathy-phenotype-in-mybpc3-knock-in-mice
#2
Frederik Flenner, Birgit Geertz, Silke Reischmann-Düsener, Florian Weinberger, Thomas Eschenhagen, Lucie Carrier, Felix W Friedrich
Left ventricular hypertrophy, diastolic dysfunction and fibrosis are main features of hypertrophic cardiomyopathy (HCM). Guidelines recommend β-adrenoceptor or Ca(2+) channel antagonists as pharmacological treatment. The Ca(2+) channel blocker diltiazem recently showed promising beneficial effects in pre-clinical HCM, particularly in patients carrying MYBPC3 mutations. In the present study we evaluated whether diltiazem could ameliorate or reverse the disease phenotype in cells and in vivo in Mybpc3-targeted knock-in (KI) mouse model of HCM...
January 15, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28088328/altered-myocyte-contractility-and-calcium-homeostasis-in-alpha-myosin-heavy-chain-point-mutations-linked-to-familial-dilated-cardiomyopathy
#3
Matthew Klos, Lakshmi Mundada, Indroneal Banerjee, Sherry Morgenstern, Stephanie Myers, Michael Leone, Mark Kleid, Todd Herron, Eric Devaney
Mutations in the human cardiac motor protein beta-myosin heavy chain (βMHC) have been long recognized as a cause of familial hypertrophic cardiomyopathy. Recently, mutations (P830L and A1004S) in the less abundant but faster isoform alpha-myosin heavy chain (αMHC) have been linked to dilated cardiomyopathy (DCM). In this study, we sought to determine the cellular contractile phenotype associated with these point mutations. Ventricular myocytes were isolated from 2 month male Sprague Dawley rats. Cells were cultured in M199 media and infected with recombinant adenovirus containing the P830L or the A1004S mutant human αMHC at a MOI of 500 for 18 h...
January 11, 2017: Archives of Biochemistry and Biophysics
https://www.readbyqxmd.com/read/28069669/refining-the-molecular-organization-of-the-cardiac-intercalated-disc
#4
REVIEW
Sarah H Vermij, Hugues Abriel, Toon A B van Veen
This review presents an extensively integrated model of the cardiac intercalated disc (ID), a highly orchestrated structure that connects adjacent cardiomyocytes. Classically, three main structures are distinguished: gap junctions (GJs) metabolically and electrically connect cytoplasm of adjacent cardiomyocytes; adherens junctions (AJs) connect the actin cytoskeleton of adjacent cells; and desmosomes function as cell anchors and connect intermediate filaments. Furthermore, ion channels reside in the ID. Mutations in ID proteins have been associated with cardiac arrhythmias such as Brugada syndrome and arrhythmogenic cardiomyopathy...
January 8, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28067713/widespread-down-regulation-of-cardiac-mitochondrial-and-sarcomeric-genes-in-patients-with-sepsis
#5
Scot J Matkovich, Belal Al Khiami, Igor R Efimov, Sarah Evans, Justin Vader, Ashwin Jain, Bernard H Brownstein, Richard S Hotchkiss, Douglas L Mann
OBJECTIVES: The mechanism(s) for septic cardiomyopathy in humans is not known. To address this, we measured messenger RNA alterations in hearts from patients who died from systemic sepsis, in comparison to changed messenger RNA expression in nonfailing and failing human hearts. DESIGN: Identification of genes with altered abundance in septic cardiomyopathy, ischemic heart disease, or dilated cardiomyopathy, in comparison to nonfailing hearts. SETTING: ICUs at Barnes-Jewish Hospital, St...
January 6, 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/28065693/inhibition-of-mir-208b-improves-cardiac-function-in-titin-based-dilated-cardiomyopathy
#6
Qifeng Zhou, Sonja Schötterl, Daniel Backes, Eva Brunner, Julia Kelley Hahn, Elena Ionesi, Parwez Aidery, Carsten Sticht, Siegfried Labeit, Reinhard Kandolf, Meinrad Gawaz, Michael Gramlich
BACKGROUND: Dilated cardiomyopathy (DCM) is the result of maladaptive cardiac remodeling, which involves microRNA regulation. In turn, microRNAs can contribute to the remodeling process by post-transcriptional modulation of gene expression networks. The exact role of microRNAs in the pathogenesis of DCM is largely unknown. Here, we used an inducible DCM mouse model that carries a human truncation mutation in the sarcomeric protein titin to dissect microRNA pathways in DCM development...
December 28, 2016: International Journal of Cardiology
https://www.readbyqxmd.com/read/28062247/severe-apical-hypertrophic-cardiomyopathy-with-ser-236-gly-mutation-in-mybpc3-a-three-year-follow-up-investigation
#7
XueJiang Cen, JianLei Zheng, XueLie Hu, BaiMing Qu
Apical hypertrophic cardiomyopathy (AHCM) is a relatively rare form of hypertrophic cardiomyopathy (HCM) and usually involved with genetic variations encoding sarcomeric proteins. In this report, a 68-year-old male presented with exertional angina and giant negative T-waves in the precordial leads V3-V6 was eventually diagnosed with severe AHCM by echocardiography and left ventriculogram. The entire coding Sequences of the most frequent HCM-causing genes were analyzed. A novel mutation of Ser 236 Gly in myosin-binding protein C (MYBPC3) gene was discovered...
January 3, 2017: Hellenic Journal of Cardiology: HJC, Hellēnikē Kardiologikē Epitheōrēsē
https://www.readbyqxmd.com/read/28049727/allosteric-transmission-along-a-loosely-structured-backbone-allows-a-cardiac-troponin-c-mutant-to-function-with-only-one-ca2-ion
#8
Mayra de A Marques, Jose Renato Pinto, Adolfo H Moraes, Anwar Iqbal, Mariana T Q de Magalhães, Jamila Monteiro, Murilo M Pedrote, Martha M Sorenson, Jerson L Silva, Guilherme A P de Oliveira
Hypertrophic cardiomyopathy (HCM) is one of the most common cardiomyopathies, and a major cause of sudden death in young athletes. The Ca2+ sensor of the sarcomere, cardiac troponin C (cTnC), plays an important role in regulating muscle contraction. Although several cardiomyopathy-causing mutations have been identified in cTnC, limited information about their structural defects has been mapped to the HCM phenotype. Here, we use high-resolution electron-spray ionization mass spectrometry (ESI-MS), Carr-Purcell-Meiboom-Gill relaxation dispersion (CPMG-RD) and affinity measurements of cTnC for the thin filament in reconstituted papillary muscles to provide evidence of an allosteric mechanism in mutant cTnC that may play a role to the HCM phenotype...
January 3, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28005231/life-long-tailoring-of-management-for-patients-with-hypertrophic-cardiomyopathy-awareness-and-decision-making-in-changing-scenarios
#9
M Michels, I Olivotto, F W Asselbergs, J van der Velden
Hypertrophic cardiomyopathy (HCM) is the most common genetic heart disease, characterised by complex pathophysiology and extensive genetic and clinical heterogeneity. In most patients, HCM is caused by mutations in cardiac sarcomere protein genes and inherited as an autosomal dominant trait. The clinical phenotype ranges from severe presentations at a young age to lack of left ventricular hypertrophy in genotype-positive individuals. No preventative treatment is available as the sequence and causality of the pathomechanisms that initiate and exacerbate HCM are unknown...
December 22, 2016: Netherlands Heart Journal
https://www.readbyqxmd.com/read/28002430/a-novel-hras-mutation-independently-contributes-to-left-ventricular-hypertrophy-in-a-family-with-a-known-myh7-mutation
#10
Maria Elena Sana, Lawrence A Quilliam, Andrea Spitaleri, Laura Pezzoli, Daniela Marchetti, Chiara Lodrini, Elisabetta Candiago, Anna Rita Lincesso, Paolo Ferrazzi, Maria Iascone
Several genetic conditions can lead to left ventricular hypertrophy (LVH). Among them, hypertrophic cardiomyopathy (HCM), caused by mutations in sarcomere genes, is the most common inherited cardiac disease. Instead, RASopathies, a rare class of disorders characterized by neuro-cardio-facial-cutaneous abnormalities and sometimes presenting with LVH, are caused by mutations in the RAS-MAPK pathway. We report on a 62-years-old male who presented isolated severe obstructive LVH but did not carry the sarcomere mutation previously identified in his affected relatives...
2016: PloS One
https://www.readbyqxmd.com/read/27994558/epigallocatechin-3-gallate-accelerates-relaxation-and-ca-2-transient-decay-and-desensitizes-myofilaments-in-healthy-and-mybpc3-targeted-knock-in-cardiomyopathic-mice
#11
Felix W Friedrich, Frederik Flenner, Mahtab Nasib, Thomas Eschenhagen, Lucie Carrier
Background: Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac muscle disease with left ventricular hypertrophy, interstitial fibrosis and diastolic dysfunction. Increased myofilament Ca(2+) sensitivity could be the underlying cause of diastolic dysfunction. Epigallocatechin-3-gallate (EGCg), a catechin found in green tea, has been reported to decrease myofilament Ca(2+) sensitivity in HCM models with troponin mutations. However, whether this is also the case for HCM-associated thick filament mutations is not known...
2016: Frontiers in Physiology
https://www.readbyqxmd.com/read/27983818/structural-and-functional-effects-of-cardiomyopathy-causing-mutations-in-the-troponin-t-binding-region-of-cardiac-tropomyosin
#12
Alexander M Matyushenko, Daniil V Shchepkin, Galina V Kopylova, Katerina E Popruga, Natalya V Artemova, Anastasia V Pivovarova, Sergey Y Bershitsky, Dmitrii I Levitsky
Hypertrophic cardiomyopathy (HCM) is a severe heart disease caused by missense mutations in genes encoding sarcomeric proteins of cardiac muscle. Many of these mutations are identified in the gene encoding the cardiac isoform of tropomyosin (Tpm), an α-helical coiled-coil actin-binding protein that plays a key role in Ca(2+)-regulated contraction of cardiac muscle. We employed various methods to characterize structural and functional features of recombinant human Tpm species carrying HCM mutations that lie either within the troponin T-binding region in the C-terminal part of Tpm (E180G, E180V, and L185R) or near this region (I172T)...
December 16, 2016: Biochemistry
https://www.readbyqxmd.com/read/27973580/a-small-molecule-inhibitor-of-sarcomere-contractility-acutely-relieves-left-ventricular-outflow-tract-obstruction-in-feline-hypertrophic-cardiomyopathy
#13
Joshua A Stern, Svetlana Markova, Yu Ueda, Jae B Kim, Peter J Pascoe, Marc J Evanchik, Eric M Green, Samantha P Harris
Hypertrophic cardiomyopathy (HCM) is an inherited disease of the heart muscle characterized by otherwise unexplained thickening of the left ventricle. Left ventricular outflow tract (LVOT) obstruction is present in approximately two-thirds of patients and substantially increases the risk of disease complications. Invasive treatment with septal myectomy or alcohol septal ablation can improve symptoms and functional status, but currently available drugs for reducing obstruction have pleiotropic effects and variable therapeutic responses...
2016: PloS One
https://www.readbyqxmd.com/read/27956910/mutation-analysis-of-three-exons-of-myosin-binding-protein-c3-in-patients-with-hypertrophic-cardiomyopathy
#14
Maryam Beigom Mobasheri, Mohammad Hossein Modarressi, Cirus Darabian, Ali Akbar Zeinalou
Background: Hypertrophic cardiomyopathy is a genetic disorder with a prevalence rate of 0.2% in the general population. It comes from mutations in sarcomeric proteins. Cardiac myosin-binding protein C3 is one of the critical genes in hypertrophic cardiomyopathy (HCM) and sudden cardiac death, accounting for about 20% of HCM-causing mutations. Genetic testing is recommended in patients with HCM. The aim of the current study was to find possible disease-causing mutations in 3 exons of the gene myosin-binding protein C (MYBPC3) in patients with HCM...
July 6, 2016: Journal of Tehran Heart Center
https://www.readbyqxmd.com/read/27955979/cardiac-inflammation-in-genetic-dilated-cardiomyopathy-caused-by-mybpc3-mutation
#15
Thomas L Lynch, Mohamed Ameen Ismahil, Anil G Jegga, Michael J Zilliox, Christian Troidl, Sumanth D Prabhu, Sakthivel Sadayappan
Cardiomyopathies are a leading cause of heart failure and are often caused by mutations in sarcomeric genes, resulting in contractile dysfunction and cellular damage. This may stimulate the production of a robust proinflammatory response. To determine whether myocardial inflammation is associated with cardiac dysfunction in dilated cardiomyopathy (DCM) caused by MYBPC3 mutation, we used the well-characterized cMyBP-C((t/t)) mouse model of DCM at 3months of age. Compared to wild type (WT) mice, DCM mice exhibited significantly decreased fractional shortening (36...
December 10, 2016: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/27920728/connecting-sarcomere-protein-mutations-to-pathogenesis-in-cardiomyopathies-the-development-of-disease-in-a-dish-models
#16
Rebecca Zaunbrecher, Michael Regnier
Recent technological and protocol developments have greatly increased the ability to utilize stem cells transformed into cardiomyocytes as models to study human heart muscle development and how this is affected by disease associated mutations in a variety of sarcomere proteins. In this perspective we provide an overview of these emerging technologies and how they are being used to create better models of "disease in a dish" for both research and screening assays. We also consider the value of these assays as models to explore the seminal processes in initiation of the disease development and the possibility of early interventions...
2016: Frontiers in Physiology
https://www.readbyqxmd.com/read/27914791/aberrant-developmental-titin-splicing-and-dysregulated-sarcomere-length-in-thymosin-%C3%AE-4-knockout-mice
#17
Nicola Smart, Johannes Riegler, Cameron W Turtle, Craig A Lygate, Debra J McAndrew, Katja Gehmlich, Karina N Dubé, Anthony N Price, Vivek Muthurangu, Andrew M Taylor, Mark F Lythgoe, Charles Redwood, Paul R Riley
Sarcomere assembly is a highly orchestrated and dynamic process which adapts, during perinatal development, to accommodate growth of the heart. Sarcomeric components, including titin, undergo an isoform transition to adjust ventricular filling. Many sarcomeric genes have been implicated in congenital cardiomyopathies, such that understanding developmental sarcomere transitions will inform the aetiology and treatment. We sought to determine whether Thymosin β4 (Tβ4), a peptide that regulates the availability of actin monomers for polymerization in non-muscle cells, plays a role in sarcomere assembly during cardiac morphogenesis and influences adult cardiac function...
November 30, 2016: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/27908349/truncating-flnc-mutations-are-associated-with-high-risk-dilated-and-arrhythmogenic-cardiomyopathies
#18
Martín F Ortiz-Genga, Sofía Cuenca, Matteo Dal Ferro, Esther Zorio, Ricardo Salgado-Aranda, Vicente Climent, Laura Padrón-Barthe, Iria Duro-Aguado, Juan Jiménez-Jáimez, Víctor M Hidalgo-Olivares, Enrique García-Campo, Chiara Lanzillo, M Paz Suárez-Mier, Hagith Yonath, Sonia Marcos-Alonso, Juan P Ochoa, José L Santomé, Diego García-Giustiniani, Jorge L Rodríguez-Garrido, Fernando Domínguez, Marco Merlo, Julián Palomino, María L Peña, Juan P Trujillo, Alicia Martín-Vila, Davide Stolfo, Pilar Molina, Enrique Lara-Pezzi, Francisco E Calvo-Iglesias, Eyal Nof, Leonardo Calò, Roberto Barriales-Villa, Juan R Gimeno-Blanes, Michael Arad, Pablo García-Pavía, Lorenzo Monserrat
BACKGROUND: Filamin C (encoded by the FLNC gene) is essential for sarcomere attachment to the plasmatic membrane. FLNC mutations have been associated with myofibrillar myopathies, and cardiac involvement has been reported in some carriers. Accordingly, since 2012, the authors have included FLNC in the genetic screening of patients with inherited cardiomyopathies and sudden death. OBJECTIVES: The aim of this study was to demonstrate the association between truncating mutations in FLNC and the development of high-risk dilated and arrhythmogenic cardiomyopathies...
December 6, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27885498/prognostic-predictive-value-of-gene-mutations-in-japanese-patients-with-hypertrophic-cardiomyopathy
#19
Ayako Chida, Kei Inai, Hiroki Sato, Eriko Shimada, Tsutomu Nishizawa, Mitsuyo Shimada, Michiko Furutani, Yoshiyuki Furutani, Yoichi Kawamura, Masaya Sugimoto, Jun Ishihara, Masako Fujiwara, Takashi Soga, Masatoshi Kawana, Shinya Fuji, Shigeru Tateno, Kenji Kuraishi, Shigetoyo Kogaki, Mitsuhiro Nishimura, Mamoru Ayusawa, Fukiko Ichida, Hirokuni Yamazawa, Rumiko Matsuoka, Shigeaki Nonoyama, Toshio Nakanishi
Although some studies have attempted to find useful prognostic factors in hypertrophic cardiomyopathy (HCM), those results are not fully helpful for use in actual clinical practice. Furthermore, several genetic abnormalities associated with HCM have been identified. However, the genotype-phenotype correlation in HCM remains to be elucidated. Here, we attempted to assess patients with different types of gene mutations causing HCM and investigate the prognosis. A total of 140 patients with HCM underwent a screening test for myofilament gene mutations by direct sequencing of eight sarcomeric genes...
November 24, 2016: Heart and Vessels
https://www.readbyqxmd.com/read/27882462/proliferative-potential-of-cardiomyocytes-in-hypertrophic-cardiomyopathy-correlation-with-myocardial-remodeling
#20
T V Sukhacheva, Yu A Chudinovskikh, M V Eremeeva, R A Serov, L A Bockeria
Proliferating Ki-67(+) cardiomyocytes were detected in the interventricular septum myocardium of adult patients with hypertrophic cardiomyopathy. In the same patients, the severity of hypertrophy and the degree of cardiomyocyte differentiation were assessed by the content of myofibrils, ultrastructural morphology, and the pattern of connexin 43-containing gap junction distribution. Adult Ki-67(+) cardiomyocytes containing sarcomeric α-actin (sarc α-act(+)) in the sarcoplasm (diameter 23.9±6.9 μ) were detected in the myocardium of patients with hypertrophic cardiomyopathy; their relative content varied from 2 to 3084 cells per 1 million cardiomyocytes...
November 2016: Bulletin of Experimental Biology and Medicine
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