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Sarcomeric cardiomyopathy

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https://www.readbyqxmd.com/read/28645928/molecular-mechanisms-in-cardiomyopathy
#1
REVIEW
Keith Dadson, Ludger Hauck, Filio Billia
Cardiomyopathies represent a heterogeneous group of diseases that negatively affect heart function. Primary cardiomyopathies specifically target the myocardium, and may arise from genetic [hypertrophic cardiomyopathy (HCM), arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D), mitochondrial cardiomyopathy] or genetic and acquired [dilated cardiomyopathy (DCM), restrictive cardiomyopathy (RCM)] etiology. Modern genomics has identified mutations that are common in these populations, while in vitro and in vivo experimentation with these mutations have provided invaluable insight into the molecular mechanisms native to these diseases...
July 1, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28642712/investigations-into-the-sarcomeric-protein-and-ca-2-regulation-abnormalities-underlying-hypertrophic-cardiomyopathy-in-cats-felix-catus
#2
Andrew E Messer, Jasmine Chan, Alex Daley, O'Neal Copeland, Steven B Marston, David J Connolly
Hypertrophic cardiomyopathy (HCM) is the most common single gene inherited cardiomyopathy. In cats (Felix catus) HCM is even more prevalent and affects 16% of the outbred population and up to 26% in pedigree breeds such as Maine Coon and Ragdoll. Homozygous MYBPC3 mutations have been identified in these breeds but the mutations in other cats are unknown. At the clinical and physiological level feline HCM is closely analogous to human HCM but little is known about the primary causative mechanism. Most identified HCM causing mutations are in the genes coding for proteins of the sarcomere...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28638918/-generation-of-tnnt2a-knock-out-zebrafish-via-crispr-cas9-and-phenotypic-analysis
#3
Lian Liu, Ran-Ran Zhang, Qian Yang, Xu Wang, Yong-Hao Gui
Cardiac troponin T (cTnT) serves as a structural protein of myocardial fiber, and participates in heart excitation-contraction coupling process. Here, we generated tnnt2a (cTnT-coding gene) deletion mutant zebrafish via CRISPR/Cas9 technique, and performed phenotypic analysis of the identified tnnt2a mutants. We observed that there was no significant difference between heterozygous mutant and wild type zebrafish, and the homozygous mutants displayed significant malformations in heart, including cardiac arrest, atrium and ventricle enlargement, pericardium effusion, and the individuals usually died before 7 day post fertilization (dpf)...
June 25, 2017: Sheng Li Xue Bao: [Acta Physiologica Sinica]
https://www.readbyqxmd.com/read/28630914/deregulated-ca-2-cycling-underlies-the-development-of-arrhythmia-and-heart-disease-due-to-mutant-obscurin
#4
Li-Yen R Hu, Maegen A Ackermann, Peter A Hecker, Benjamin L Prosser, Brendan King, Kelly A O'Connell, Alyssa Grogan, Logan C Meyer, Christopher E Berndsen, Nathan T Wright, W Jonathan Lederer, Aikaterini Kontrogianni-Konstantopoulos
Obscurins are cytoskeletal proteins with structural and regulatory roles encoded by OBSCN. Mutations in OBSCN are associated with the development of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM). Specifically, the R4344Q mutation present in immunoglobulin domain 58 (Ig58) was the first to be linked with the development of HCM. To assess the effects of R4344Q in vivo, we generated the respective knock-in mouse model. Mutant obscurins are expressed and incorporated normally into sarcomeres...
June 2017: Science Advances
https://www.readbyqxmd.com/read/28617969/conditionally-targeted-deletion-of-psen1-leads-to-diastolic-heart-dysfunction
#5
Xiao-Wei Song, Qing-Ning Yuan, Ying Tang, Mi Cao, Ya-Feng Shen, Zhen-Yu Zeng, Chang-Hai Lei, SongHua Li, Xian-Xian Zhao, Yong-Ji Yang
Recently, PSEN1 has been reported to have mutations in dilated cardiomyopathy pedigrees. However, the function and mechanism of PSEN1 in cardiomyopathy remains unresolved. Here, we established 4 types of genetically modified mice to determine the function of PSEN1 in cardiac development and pathology. PSEN1 null mutation resulted in perinatal death, retardation of heart growth, ventricular dilatation, septum defects, and valvular thickening. PSEN1 knockout in adults led to decreased muscle fibers, widened sarcomere Z lines and reduced lengths of sarcomeres in cardiomyocytes...
June 15, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28612341/cardiomyocyte-marker-expression-in-dogs-with-left-atrial-enlargement-due-to-dilated-cardiomyopathy-or-myxomatous-mitral-valve-disease
#6
Izabela Janus, Malgorzata Kandefer-Gola, Rafal Ciaputa, Agnieszka Noszczyk-Nowak, Urszula Paslawska, Massimiliano Tursi, Marcin Nowak
INTRODUCTION: Dilated cardiomyopathy (DCM) and myxomatous mitral valve disease (MMVD) are common heart conditions in dogs. They have different etiology and pathogenesis and although other studies focused on changes in the left ventricles of the affected hearts, the aim of our study was to assess the expressions of some intrinsic proteins in the enlarged left atria. MATERIAL AND METHODS: We performed an immunohistochemical analysis of left atrial specimens obtained from 15 dogs with DCM, 35 dogs with MMVD and six control dogs...
June 14, 2017: Folia Histochemica et Cytobiologica
https://www.readbyqxmd.com/read/28606303/effects-of-myosin-variants-on-interacting-heads-motif-explain-distinct-hypertrophic-and-dilated-cardiomyopathy-phenotypes
#7
Lorenzo Alamo, James S Ware, Antonio Pinto, Richard E Gillilan, Jonathan G Seidman, Christine E Seidman, Raúl Padrón
Cardiac β-myosin variants cause hypertrophic (HCM) or dilated (DCM) cardiomyopathy by disrupting sarcomere contraction and relaxation. The locations of variants on isolated myosin head structures predict contractility effects but not the prominent relaxation and energetic deficits that characterize HCM. During relaxation, pairs of myosins form interacting-heads motif (IHM) structures that with other sarcomere proteins establish an energy-saving, super-relaxed (SRX) state. Using a human β-cardiac myosin IHM quasi-atomic model, we defined interactions sites between adjacent myosin heads and associated protein partners, and then analyzed rare variants from 6112 HCM and 1315 DCM patients and 33,370 ExAC controls...
June 13, 2017: ELife
https://www.readbyqxmd.com/read/28603979/clinically-divergent-mutation-effects-on-the-structure-and-function-of-the-human-cardiac-tropomyosin-overlap
#8
Mark McConnell, Lauren Tal Grinspan, Michael R Williams, Melissa L Lynn, Benjamin A Schwartz, Ofer Z Fass, Steven D Schwartz, Jil C Tardiff
The progression of genetically inherited cardiomyopathies from an altered protein structure to clinical presentation of disease is not well understood. One of the main roadblocks to mechanistic insight remains a lack of high-resolution structural information about multiprotein complexes within the cardiac sarcomere. One example is the tropomyosin (Tm) overlap region of the thin filament that is crucial for the function of the cardiac sarcomere. To address this central question, we devised coupled experimental and computational modalities to characterize the baseline function and structure of the Tm overlap, as well as the effects of mutations causing divergent patterns of ventricular remodeling on both structure and function...
June 21, 2017: Biochemistry
https://www.readbyqxmd.com/read/28587156/differential-sarcomere-and-electrophysiological-maturation-of-human-ipsc-derived-cardiac-myocytes-in-monolayer-vs-aggregation-based-differentiation-protocols
#9
Dorota Jeziorowska, Vincent Fontaine, Charlène Jouve, Eric Villard, Sébastien Dussaud, David Akbar, Valérie Letang, Pauline Cervello, Jean-Michiel Itier, Marie-Pierre Pruniaux, Jean-Sébastien Hulot
Human induced pluripotent stem cells (iPSCs) represent a powerful human model to study cardiac disease in vitro, notably channelopathies and sarcomeric cardiomyopathies. Different protocols for cardiac differentiation of iPSCs have been proposed either based on embroid body formation (3D) or, more recently, on monolayer culture (2D). We performed a direct comparison of the characteristics of the derived cardiomyocytes (iPSC-CMs) on day 27 ± 2 of differentiation between 3D and 2D differentiation protocols with two different Wnt-inhibitors were compared: IWR1 (inhibitor of Wnt response) or IWP2 (inhibitor of Wnt production)...
June 1, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28577155/rbm20-a-potential-target-for-treatment-of-cardiomyopathy-via-titin-isoform-switching
#10
REVIEW
Wei Guo, Mingming Sun
Cardiomyopathy, also known as heart muscle disease, is an unfavorable condition leading to alterations in myocardial contraction and/or impaired ability of ventricular filling. The onset and development of cardiomyopathy have not currently been well defined. Titin is a giant multifunctional sarcomeric filament protein that provides passive stiffness to cardiomyocytes and has been implicated to play an important role in the origin and development of cardiomyopathy and heart failure. Titin-based passive stiffness can be mainly adjusted by isoform switching and post-translational modifications in the spring regions...
June 2, 2017: Biophysical Reviews
https://www.readbyqxmd.com/read/28571807/dilated-cardiomyopathy-induced-disruption-of-basement-membrane-alters-the-lever-systems-acting-on-the-heart
#11
Iman A Mohamed, Nagwa El-Badri, Amr Zaher
Dilated cardiomyopathy (DCM) is considered the most common form of non-ischemic heart diseases. DCM, occurs in response to both non-genetic and genetic factors, and has been associated with cytoskeletal protein mutations, impairing the contractile apparatus of cardiac myocytes. However, the pathology underlying the marked left ventricular dilatation remains unclear. Moreover, patients with end-stage DCM show alterations in the composition of the extracellular matrix (ECM), and myocardial fibrosis even when the cardiac myocytes are intact...
June 2017: Medical Hypotheses
https://www.readbyqxmd.com/read/28567093/cardiomyopathies-with-mixed-and-inapparent-morphological-features-in-cardiac-troponin-i3-mutation
#12
Dae-Won Sohn, Hyung-Kwan Kim, Yong-Jin Kim, Seil Oh, Moon-Woo Seong, Sung-Sup Park
The fact that different types of cardiomyopathies can be manifested by the same sarcomere protein gene mutation in a single family is well known. However, mixed features of different types of cardiomyopathies in a single patient have not been well appreciated. We identified a novel mutation in cardiac troponin I3 (Arg186Gly) in the present case, and two of the family members showed mixed morphologic features of hypertrophic cardiomyopathy and left ventricular non-compaction. Moreover, both the features of cardiomyopathies were not apparent for each type of cardiomyopathy...
May 2017: Korean Circulation Journal
https://www.readbyqxmd.com/read/28538763/myosin-binding-protein-c-compound-heterozygous-variant-effect-on-the-phenotypic-expression-of-hypertrophic-cardiomyopathy
#13
Julianny Freitas Rafael, Fernando Eugênio Dos Santos Cruz, Antônio Carlos Campos de Carvalho, Ilan Gottlieb, José Guilherme Cazelli, Ana Paula Siciliano, Glauber Monteiro Dias
Hypertrophic cardiomyopathy (HCM) is an autosomal dominant genetic disease caused by mutations in genes encoding sarcomere proteins. It is the major cause of sudden cardiac death in young high-level athletes. Studies have demonstrated a poorer prognosis when associated with specific mutations. The association between HCM genotype and phenotype has been the subject of several studies since the discovery of the genetic nature of the disease. This study shows the effect of a MYBPC3 compound variant on the phenotypic HCM expression...
April 2017: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/28521630/isolated-ventricular-noncompaction-cardiomyopathy-presenting-as-fetal-hydrops-at-24-weeks-gestation
#14
Jane E Armes, Lisa Squires, Rohan Lourie, Mark Williams, Renee Gallagher, Gareth Price, Andrew Stubbs, Sigrid Ma Swagemakers, Peter J van der Spek, James Harraway, Joseph Thomas, Deon J Venter
Ventricular noncompaction cardiomyopathy is a rare form of congenital cardiomyopathy with increasing evidence of genetic etiology, especially when presenting in childhood. Fetal presentation is rare. We describe a case of fetal hydrops, presenting at 24 weeks gestation and leading to intrapartum death at 26 weeks gestation. Autopsy examination revealed characteristic features of left ventricular noncompaction. A genetic analysis identified a constellation of variants of unknown significance in MYH6, TNNC1, and MYBPC3, genes known to be important in sarcomeric function...
June 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28520448/-the-role-of-cardiovascular-magnetic-resonance-imaging-in-the-diagnosis-of-hypertrophic-cardiomyopathy-part-ii
#15
Martin Pleva, Júlia Borová, Ilona Plevová, Jaroslav Januška, Margita Belicová
Hypertrophic cardiomyopathy is currently understood as a group of diseases with left ventricular hypertrophy, which are not based on adaptive mechanisms. The first part of the review details the possibility of cardiac magnetic resonance in the diagnosis of sarcomeric forms of hypertrophic cardiomyopathy, the second part will focus on the possibilities of distinguishing the sarcomeric forms from their phenocopies.Key words: cardiac magnetic resonance - hypertrophic cardiomyopathy - phenocopies.
2017: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/28515850/dissection-of-z-disc-myopalladin-gene-network-involved-in-the-development-of-restrictive-cardiomyopathy-using-system-genetics-approach
#16
Qingqing Gu, Uzmee Mendsaikhan, Zaza Khuchua, Byron C Jones, Lu Lu, Jeffrey A Towbin, Biao Xu, Enkhsaikhan Purevjav
AIM: To investigate the regulation of Myopalladin (Mypn) and identify its gene network involved in restrictive cardiomyopathy (RCM). METHODS: Gene expression values were measured in the heart of a large family of BXD recombinant inbred (RI) mice derived from C57BL/6J and DBA/2J. The proteomics data were collected from Mypn knock-in and knock-out mice. Expression quantitative trait locus (eQTL) mapping methods and gene enrichment analysis were used to identify Mypn regulation, gene pathway and co-expression networks...
April 26, 2017: World Journal of Cardiology
https://www.readbyqxmd.com/read/28510120/obscurin-variants-and-inherited-cardiomyopathies
#17
REVIEW
Steven Marston
The inherited cardiomyopathies, hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM) and left ventricular non-compaction (LVNC), have been frequently associated with mutations in sarcomeric proteins. In recent years, advances in DNA sequencing technology has allowed the study of the giant proteins of the sarcomere, such as titin and nebulin. Obscurin has been somewhat neglected in these studies, largely because its functional role is far from clear, although there was an isolated report in 2007 of obscurin mutations associated with HCM...
May 5, 2017: Biophysical Reviews
https://www.readbyqxmd.com/read/28510119/genetic-epidemiology-of-titin-truncating-variants-in-the-etiology-of-dilated-cardiomyopathy
#18
REVIEW
Ali M Tabish, Valerio Azzimato, Aris Alexiadis, Byambajav Buyandelger, Ralph Knöll
Heart failure (HF) is a complex clinical syndrome defined by the inability of the heart to pump enough blood to meet the body's metabolic demands. Major causes of HF are cardiomyopathies (diseases of the myocardium associated with mechanical and/or electrical dysfunction), among which the most common form is dilated cardiomyopathy (DCM). DCM is defined by ventricular chamber enlargement and systolic dysfunction with normal left ventricular wall thickness, which leads to progressive HF. Over 60 genes are linked to the etiology of DCM...
May 5, 2017: Biophysical Reviews
https://www.readbyqxmd.com/read/28510043/pseudophosphorylation-of-cardiac-myosin-regulatory-light-chain-a-promising-new-tool-for-treatment-of-cardiomyopathy
#19
REVIEW
Sunil Yadav, Danuta Szczesna-Cordary
Many genetic mutations in sarcomeric proteins, including the cardiac myosin regulatory light chain (RLC) encoded by the MYL2 gene, have been implicated in familial cardiomyopathies. Yet, the molecular mechanisms by which these mutant proteins regulate cardiac muscle mechanics in health and disease remain poorly understood. Evidence has been accumulating that RLC phosphorylation has an influential role in striated muscle contraction and, in addition to the conventional modulation via Ca(2+) binding to troponin C, it can regulate cardiac muscle function...
February 2017: Biophysical Reviews
https://www.readbyqxmd.com/read/28502773/phosphorylation-of-%C3%AE-b-crystallin-in-the-myocardium-analysis-of-relations-with-aging-and-cardiomyopathy
#20
Natalia A Muraleva, Vasiliy A Devyatkin, Nataliya G Kolosova
Phosphorylation is a major post-translational modification of αB-crystallin (CryaB) and determines this protein's chaperone activity, intracellular distribution, translocation, and cytoprotective functions. Phosphorylation of CryaB manifests itself as either beneficial or deleterious consequences depending on the extent of phosphorylation and interaction with the cytoskeleton. Herein, for the first time, we compared the age-related alterations of the expression and phosphorylation (on Ser59: pS59) of CryaB in the myocardium of Wistar and senescence-accelerated OXYS rats...
September 2017: Experimental Gerontology
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