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Sarcomeric cardiomyopathy

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https://www.readbyqxmd.com/read/28815794/finding-the-candidate-sequence-variants-for-diagnosis-of-hypertrophic-cardiomyopathy-in-east-slovak-patients
#1
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/28810874/sudden-cardiac-death-focus-on-the-genetics-of-channelopathies-and-cardiomyopathies
#2
REVIEW
Simona Magi, Vincenzo Lariccia, Marta Maiolino, Salvatore Amoroso, Santo Gratteri
Sudden cardiac death (SCD) describes a natural and unexpected death from cardiac causes occurring within a short period of time (generally within 1 h of symptom onset) in the absence of any other potentially lethal condition. Most SCD-related diseases have a genetic basis; in particular congenital cardiac channelopathies and cardiomyopathies have been described as leading causes of SCD. Congenital cardiac channelopathies are primary electric disorders caused by mutations affecting genes encoding cardiac ion channels or associated proteins, whereas cardiomyopathies are related to mutations in genes encoding several categories of proteins, including those of sarcomeres, desmosomes, the cytoskeleton, and the nuclear envelope...
August 15, 2017: Journal of Biomedical Science
https://www.readbyqxmd.com/read/28808052/a-small-molecule-modulator-of-cardiac-myosin-acts-on-multiple-stages-of-the-myosin-chemomechanical-cycle
#3
Raja F Kawas, Robert L Anderson, Sadie R Bartholomew Ingle, Yonghong Song, Arvinder S Sran, Hector M Rodriguez
MYK-461 is a recently discovered novel small-molecule modulator of cardiac myosin that targets the underlying sarcomere hypercontractility of hypertrophic cardiomyopathy (HCM), one of the most prevalent heritable cardiovascular disorders. Studies on isolated cells and muscle fibers, as well as intact animals, have shown that MYK-461 inhibits sarcomere force production, thereby reducing cardiac function. Initial mechanistic studies have suggested that MYK-461 primarily reduces the steady-state ATPase activity by inhibiting the rate of phosphate release of β-cardiac myosin-S1, but the molecular mechanism of action of MYK-461 has not been described...
August 14, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28798025/novel-genetic-triggers-and-genotype-phenotype-correlations-in-patients-with-left-ventricular-noncompaction
#4
Karol Miszalski-Jamka, John L Jefferies, Wojciech Mazur, Jan Głowacki, Jianhong Hu, Monika Lazar, Richard A Gibbs, Jacek Liczko, Jan Kłyś, Eric Venner, Donna M Muzny, Jarosław Rycaj, Jacek Białkowski, Ewa Kluczewska, Zbigniew Kalarus, Shalini Jhangiani, Hussein Al-Khalidi, Tomasz Kukulski, James R Lupski, William J Craigen, Matthew N Bainbridge
BACKGROUND: Left ventricular noncompaction (LVNC) is a genetically and phenotypically heterogeneous disease and, although increasingly recognized in clinical practice, there is a lack of widely accepted diagnostic criteria. We sought to identify novel genetic causes of LVNC and describe genotype-phenotype correlations. METHODS AND RESULTS: A total of 190 patients from 174 families with left ventricular hypertrabeculation (LVHT) or LVNC were referred for cardiac magnetic resonance and whole-exome sequencing...
August 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28790152/lamin-a-c-related-cardiac-disease-late-onset-with-a-variable-and-mild-phenotype-in-a-large-cohort-of-patients-with-the-lamin-a-c-p-arg331gln-founder-mutation
#5
Edgar T Hoorntje, Ilse A Bollen, Daniela Q Barge-Schaapveld, Florence H van Tienen, Gerard J Te Meerman, Joeri A Jansweijer, Anthonie J van Essen, Paul G Volders, Alina A Constantinescu, Peter C van den Akker, Karin Y van Spaendonck-Zwarts, Rogier A Oldenburg, Carlo L Marcelis, Jasper J van der Smagt, Eric A Hennekam, Aryan Vink, Marianne Bootsma, Emmelien Aten, Arthur A Wilde, Arthur van den Wijngaard, Jos L Broers, Jan D Jongbloed, Jolanda van der Velden, Maarten P van den Berg, J Peter van Tintelen
BACKGROUND: Interpretation of missense variants can be especially difficult when the variant is also found in control populations. This is what we encountered for the LMNA c.992G>A (p.(Arg331Gln)) variant. Therefore, to evaluate the effect of this variant, we combined an evaluation of clinical data with functional experiments and morphological studies. METHODS AND RESULTS: Clinical data of 23 probands and 35 family members carrying this variant were retrospectively collected...
August 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28765372/microfluidic-perfusion-shows-intersarcomere-dynamics-within-single-skeletal-muscle-myofibrils
#6
Felipe de Souza Leite, Fabio C Minozzo, David Altman, Dilson E Rassier
The sarcomere is the smallest functional unit of myofibrils in striated muscles. Sarcomeres are connected in series through a network of elastic and structural proteins. During myofibril activation, sarcomeres develop forces that are regulated through complex dynamics among their structures. The mechanisms that regulate intersarcomere dynamics are unclear, which limits our understanding of fundamental muscle features. Such dynamics are associated with the loss in forces caused by mechanical instability encountered in muscle diseases and cardiomyopathy and may underlie potential target treatments for such conditions...
August 15, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28744816/ace2-calm3-and-tnni3k-polymorphisms-as-potential-disease-modifiers-in-hypertrophic-and-dilated-cardiomyopathies
#7
Amit Kumar, Bindu Rani, Rajni Sharma, Gurjeet Kaur, Rishikesh Prasad, Ajay Bahl, Madhu Khullar
The marked clinical and genetic heterogeneity seen in hypertrophic (HCM) and dilated cardiomyopathies (DCM) suggests involvement of disease modifiers and environmental factors in the pathophysiology of these diseases. In the current study, we examined association of single nucleotide polymorphisms (SNPs) of three candidate genes, ACE2 (rs6632677), TNNI3K (rs49812611) and CALM3 (rs13477425) with clinical phenotypes of HCM and DCM patients of North Indian ethnicity. Prevalence of ACE2 (7160726 C>G) variant genotypes (CG and GG) was significantly higher in DCM subjects as compared to controls...
July 25, 2017: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/28735292/pathogenesis-of-hypertrophic-cardiomyopathy-is-mutation-rather-than-disease-specific-a-comparison-of-the-cardiac-troponin-t-e163r-and-r92q-mouse-models
#8
Cecilia Ferrantini, Raffaele Coppini, Josè Manuel Pioner, Francesca Gentile, Benedetta Tosi, Luca Mazzoni, Beatrice Scellini, Nicoletta Piroddi, Annunziatina Laurino, Lorenzo Santini, Valentina Spinelli, Leonardo Sacconi, Pieter De Tombe, Rachel Moore, Jil Tardiff, Alessandro Mugelli, Iacopo Olivotto, Elisabetta Cerbai, Chiara Tesi, Corrado Poggesi
BACKGROUND: In cardiomyocytes from patients with hypertrophic cardiomyopathy, mechanical dysfunction and arrhythmogenicity are caused by mutation-driven changes in myofilament function combined with excitation-contraction (E-C) coupling abnormalities related to adverse remodeling. Whether myofilament or E-C coupling alterations are more relevant in disease development is unknown. Here, we aim to investigate whether the relative roles of myofilament dysfunction and E-C coupling remodeling in determining the hypertrophic cardiomyopathy phenotype are mutation specific...
July 22, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28717924/hypertrophic-cardiomyopathy-and-the-myosin-mesa-viewing-an-old-disease-in-a-new-light
#9
REVIEW
Darshan V Trivedi, Arjun S Adhikari, Saswata S Sarkar, Kathleen M Ruppel, James A Spudich
The sarcomere is an exquisitely designed apparatus that is capable of generating force, which in the case of the heart results in the pumping of blood throughout the body. At the molecular level, an ATP-dependent interaction of myosin with actin drives the contraction and force generation of the sarcomere. Over the past six decades, work on muscle has yielded tremendous insights into the workings of the sarcomeric system. We now stand on the cusp where the acquired knowledge of how the sarcomere contracts and how that contraction is regulated can be extended to an understanding of the molecular mechanisms of sarcomeric diseases, such as hypertrophic cardiomyopathy (HCM)...
July 17, 2017: Biophysical Reviews
https://www.readbyqxmd.com/read/28717008/the-cardiac-z-disc-protein-cefip-regulates-cardiomyocyte-hypertrophy-by-modulating-calcineurin-signaling
#10
Franziska Dierck, Christian Kuhn, Claudia Rohr, Susanne Hille, Julia Braune, Samuel Sossalla, Sibylle Molt, Peter F M van der Ven, Dieter O Fürst, Norbert Frey
The z-disc is a structural component at the lateral borders of the sarcomere and is important for mechanical stability and contractility of both cardiac and skeletal muscles. Of note, the sarcomeric z-disc also represents a nodal point in cardiomyocyte function and signaling. Mutations of numerous z-disc proteins are associated with cardiomyopathies and muscle diseases. To identify additional z-disc proteins that might contribute to cardiac disease, we employed an in silico screen for cardiac-enriched cDNAs...
July 17, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28698364/loss-of-mouse-cardiomyocyte-talin-1-and-talin-2-leads-to-%C3%AE-1-integrin-reduction-costameric-instability-and-dilated-cardiomyopathy
#11
Ana Maria Manso, Hideshi Okada, Francesca M Sakamoto, Emily Moreno, Susan J Monkley, Ruixia Li, David R Critchley, Robert S Ross
Continuous contraction-relaxation cycles of the heart require strong and stable connections of cardiac myocytes (CMs) with the extracellular matrix (ECM) to preserve sarcolemmal integrity. CM attachment to the ECM is mediated by integrin complexes localized at the muscle adhesion sites termed costameres. The ubiquitously expressed cytoskeletal protein talin (Tln) is a component of muscle costameres that links integrins ultimately to the sarcomere. There are two talin genes, Tln1 and Tln2. Here, we tested the function of these two Tln forms in myocardium where Tln2 is the dominant isoform in postnatal CMs...
July 25, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28697927/a-unique-case-of-type-1-facioscapulohumeral-muscular-dystrophy-and-sarcomeric-hypertrophic-cardiomyopathy
#12
Gustavo Lima da Silva, Tatiana Guimarães, Fausto J Pinto, Dulce Brito
No abstract text is available yet for this article.
July 8, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/28687478/factors-influencing-the-phenotypic-expression-of-hypertrophic-cardiomyopathy-in-genetic-carriers
#13
Inmaculada Pérez-Sánchez, Antonio José Romero-Puche, Esperanza García-Molina Sáez, María Sabater-Molina, José María López-Ayala, Carmen Muñoz-Esparza, David López-Cuenca, Gonzalo de la Morena, Francisco José Castro-García, Juan Ramón Gimeno-Blanes
INTRODUCTION AND OBJECTIVES: Hypertrophic cardiomyopathy (HCM) is a disorder with variable expression. It is mainly caused by mutations in sarcomeric genes but the phenotype could be modulated by other factors. The aim of this study was to determine whether factors such as sex, systemic hypertension, or physical activity are modifiers of disease severity and to establish their role in age-related penetrance of HCM. METHODS: We evaluated 272 individuals (mean age 49 ± 17 years, 57% males) from 72 families with causative mutations...
July 4, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/28672880/ankyrin-repeat-domain-1-protein-a-functionally-pleiotropic-protein-with-cardiac-biomarker-potential
#14
REVIEW
Samantha S M Ling, Yei-Tsung Chen, Juan Wang, Arthur M Richards, Oi Wah Liew
The ankyrin repeat domain 1 (ANKRD1) protein is a cardiac-specific stress-response protein that is part of the muscle ankyrin repeat protein family. ANKRD1 is functionally pleiotropic, playing pivotal roles in transcriptional regulation, sarcomere assembly and mechano-sensing in the heart. Importantly, cardiac ANKRD1 has been shown to be highly induced in various cardiomyopathies and in heart failure, although it is still unclear what impact this may have on the pathophysiology of heart failure. This review aims at highlighting the known properties, functions and regulation of ANKRD1, with focus on the underlying mechanisms that may be involved...
June 26, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28658286/mybpc3-mutations-are-associated-with-a-reduced-super-relaxed-state-in-patients-with-hypertrophic-cardiomyopathy
#15
James W McNamara, Amy Li, Sean Lal, J Martijn Bos, Samantha P Harris, Jolanda van der Velden, Michael J Ackerman, Roger Cooke, Cristobal G Dos Remedios
The "super-relaxed state" (SRX) of myosin represents a 'reserve' of motors in the heart. Myosin heads in the SRX are bound to the thick filament and have a very low ATPase rate. Changes in the SRX are likely to modulate cardiac contractility. We previously demonstrated that the SRX is significantly reduced in mouse cardiomyocytes lacking cardiac myosin binding protein-C (cMyBP-C). Here, we report the effect of mutations in the cMyBP-C gene (MYBPC3) using samples from human patients with hypertrophic cardiomyopathy (HCM)...
2017: PloS One
https://www.readbyqxmd.com/read/28654758/looking-into-a-whale-s-heart-investigating-a-genetic-basis-for-cardiomyopathy-in-a-non-model-species
#16
Amélia Viricel, Patricia E Rosel
Understanding the pathogenesis of complex diseases can benefit from multi-species comparative studies. Yet these studies rarely include natural populations of non-model species. Here, we focused on the cause of a heart muscle disease, cardiomyopathy (CM), affecting multiple mammalian species including humans, cats, dogs, and certain species of whales. Mutations in genes coding for sarcomeric proteins have been identified as a leading cause for CM in humans, and some were also revealed to be responsible for CM in cats...
June 27, 2017: Genome Génome / Conseil National de Recherches Canada
https://www.readbyqxmd.com/read/28650931/hypertrophic-restrictive-cardiomyopathy-with-apical-thinning-a-peculiar-case-of-genotype-phenotype-correlation
#17
Pierluigi Lesizza, Marco Merlo, Giancarlo Vitrella, Gianfranco Sinagra
: Hypertrophic cardiomyopathy (HCM) is the most common cardiomyopathy, mainly caused by mutations in genes encoding for sarcomere proteins. Even though many mutations have been recognized to be causative of HCM, specific HCM phenotypes can be rarely predicted by the genotype, possibly as a consequence of the presence of still unknown disease-modifying genes [Maron et al. (2013). Lancet 381:242-55]. In this very peculiar case of HCM hypertrophy localized to left ventricle, mid-wall segments coexisted with a restrictive filling pattern and an apical wall thinning mimicking hypoplasia of left ventricle apex...
June 24, 2017: Journal of Cardiovascular Medicine
https://www.readbyqxmd.com/read/28648627/myofilament-protein-dynamics-modulate-ead-formation-in-human-hypertrophic-cardiomyopathy
#18
REVIEW
Melanie A Zile, Natalia A Trayanova
Patients with hypertrophic cardiomyopathy (HCM), a disease associated with sarcomeric protein mutations, often suffer from sudden cardiac death (SCD) resulting from arrhythmia. In order to advance SCD prevention strategies, our understanding of how sarcomeric mutations in HCM patients contribute to enhanced arrhythmogenesis needs to be improved. Early afterdepolarizations (EADs) are an important mechanism underlying arrhythmias associated with HCM-SCD. Although the ionic mechanisms underlying EADs have been studied in general, whether myofilament protein dynamics mechanisms also underlie EADs remains unknown...
June 22, 2017: Progress in Biophysics and Molecular Biology
https://www.readbyqxmd.com/read/28645928/molecular-mechanisms-in-cardiomyopathy
#19
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
#20
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
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