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https://www.readbyqxmd.com/read/29650543/rbm20-mutations-induce-an-arrhythmogenic-dilated-cardiomyopathy-related-to-disturbed-calcium-handling
#1
Maarten M G van den Hoogenhof, Abdelaziz Beqqali, Ahmad S Amin, Ingeborg van der Made, Simona Aufiero, Mohsin A F Khan, Cees A Schumacher, Joeri A Jansweijer, Karin Y van Spaendonck-Zwarts, Carol Ann Remme, Johannes Backs, Arie O Verkerk, Antonius Baartscheer, Yigal M Pinto, Esther E Creemers
Background -Mutations in RBM20 cause a clinically aggressive form of dilated cardiomyopathy (DCM), with an increased risk of malignant ventricular arrhythmias. RBM20 is a splicing factor that targets multiple pivotal cardiac genes, such as Titin (TTN) and Calcium/calmodulin-dependent kinase II delta (CAMK2D). Aberrant TTN splicing is thought to be the main determinant of RBM20-induced DCM, but is not likely to explain the increased risk of arrhythmias. Here, we investigated the extent at which RBM20 mutation carriers have an increased risk of arrhythmias and explore the underlying molecular mechanism...
April 12, 2018: Circulation
https://www.readbyqxmd.com/read/29650191/supportive-care-needs-and-quality-of-life-of-patients-with-gynecological-cancer-undergoing-therapy
#2
Riska Hediya Putri, Yati Afiyanti, Titin Ungsianik, Ariesta Milanti
OBJECTIVE: To identify the relationship of unmet supportive care needs with quality of life of patients with gynecological cancer undergoing therapy. METHOD: This study used a cross-sectional design. A total of 153 patients with gynecological cancer undergoing therapy were recruited using consecutive sampling methods. The participants completed the questionnaire of Supportive Care Needs Survey to identify their supportive care needs, EORTC-QLQ 30 to assess their general quality of life, and EORTC-QLQ-CX 24 or - OV 28 to determine cancer-specific quality of life in cervical cancer and ovarian cancer, respectively...
February 2018: Enfermería Clínica
https://www.readbyqxmd.com/read/29650174/improving-the-interpersonal-competences-of-head-nurses-through-peplau-s-theoretical-active-learning-approach
#3
Suhariyanto, Rr Tutik Sri Hariyati, Titin Ungsianik
BACKGROUND: Effective interpersonal skills are essential for head nurses in governing and managing their work units. Therefore, an active learning strategy could be the key to enhance the interpersonal competences of head nurses. PURPOSE: This study aimed to investigate the effects of Peplau's theoretical approach of active learning on the improvement of head nurses' interpersonal skills. METHOD: This study used a pre-experimental design with one group having pretests and posttests, without control group...
February 2018: Enfermería Clínica
https://www.readbyqxmd.com/read/29598826/the-complexity-of-titin-splicing-pattern-in-human-adult-skeletal-muscles
#4
Marco Savarese, Per Harald Jonson, Sanna Huovinen, Lars Paulin, Petri Auvinen, Bjarne Udd, Peter Hackman
BACKGROUND: Mutations in the titin gene (TTN) cause a large spectrum of diseases affecting skeletal and/or cardiac muscle. TTN includes 363 coding exons, a repeated region with a high degree of complexity, isoform-specific elements, and metatranscript-only exons thought to be expressed only during fetal development. Although three main classes of isoforms have been described so far, alternative splicing events (ASEs) in different tissues or in different developmental and physiological states have been reported...
March 29, 2018: Skeletal Muscle
https://www.readbyqxmd.com/read/29578749/positive-end-expiratory-pressure-ventilation-induces-longitudinal-atrophy-in-diaphragm-fibers
#5
Johan Lindqvist, Marloes van den Berg, Robbert van der Pijl, Pleuni E Hooijman, Albertus Beishuizen, Judith Elshof, Monique de Waard, Armand Girbes, Angelique Spoelstra-de Man, Zhong-Hua Shi, Charissa van den Brom, Sylvia Bogaards, Shengyi Shen, Joshua Strom, Henk Granzier, Jeroen Kole, René J P Musters, Marinus A Paul, Leo M A Heunks, Coen A C Ottenheijm
RATIONALE: Diaphragm weakness in critically ill patients prolongs ventilator dependency and duration of hospital stay, and increases mortality and health care costs. The mechanisms underlying diaphragm weakness include cross-sectional fiber atrophy and contractile protein dysfunction, but whether additional mechanisms are at play is unknown. OBJECTIVES: To test the hypothesis that mechanical ventilation with positive end-expiratory pressure (PEEP) induces longitudinal atrophy by displacing the diaphragm in caudal direction and reducing the length of fibers...
March 26, 2018: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/29568937/genetic-analysis-of-sick-sinus-syndrome-in-a-family-harboring-compound-cacna1c-and-ttn-mutations
#6
Yao-Bin Zhu, Jie-Wei Luo, Fen Jiang, Gui Liu
Sick sinus syndrome (SSS) is a sinus node dysfunction characterized by severe sinus bradycardia. SSS results in insufficient blood supply to the brain, heart, kidneys, and other organs and is associated with the increased risk of sudden cardiac death. Bradyarrhythmia appears in the absence of any associated cardiac pathology and displays a genetic legacy. The present study identified a family with primary manifestation of sinus bradycardia (five individuals) along with early repolarization (four individuals) and atrial fibrillation (one individual)...
March 16, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29567830/cardiac-circrnas-arise-mainly-from-constitutive-exons-rather-than-alternatively-spliced-exons
#7
Simona Aufiero, Maarten M G van den Hoogenhof, Yolan J Reckman, Abdelaziz Beqqali, Ingeborg van der Made, Jolanda Kluin, Mohsin A F Khan, Yigal M Pinto, Esther E Creemers
Circular RNAs (circRNAs) are a relatively new class of RNA molecules, and knowledge about their biogenesis and function is still in its infancy. It was recently shown that alternative splicing underlies the formation of circular RNAs (circRNA) arising from the Titin (TTN) gene. Since the main mechanism by which circRNAs are formed is still unclear, we hypothesized that alternative splicing, and in particular exon skipping, is a major driver of circRNA production. We performed RNA sequencing on human and mouse hearts, mapped alternative splicing events and overlaid these with expressed circRNAs at exon-level resolution...
March 22, 2018: RNA
https://www.readbyqxmd.com/read/29540679/circular-dna-elements-of-chromosomal-origin-are-common-in-healthy-human-somatic-tissue
#8
Henrik Devitt Møller, Marghoob Mohiyuddin, Iñigo Prada-Luengo, M Reza Sailani, Jens Frey Halling, Peter Plomgaard, Lasse Maretty, Anders Johannes Hansen, Michael P Snyder, Henriette Pilegaard, Hugo Y K Lam, Birgitte Regenberg
The human genome is generally organized into stable chromosomes, and only tumor cells are known to accumulate kilobase (kb)-sized extrachromosomal circular DNA elements (eccDNAs). However, it must be expected that kb eccDNAs exist in normal cells as a result of mutations. Here, we purify and sequence eccDNAs from muscle and blood samples from 16 healthy men, detecting ~100,000 unique eccDNA types from 16 million nuclei. Half of these structures carry genes or gene fragments and the majority are smaller than 25 kb...
March 14, 2018: Nature Communications
https://www.readbyqxmd.com/read/29523227/usefulness-of-urinary-n-terminal-fragment-of-titin-to-predict-mortality-in-dilated-cardiomyopathy
#9
Akiomi Yoshihisa, Yusuke Kimishima, Takatoyo Kiko, Yu Sato, Shunsuke Watanabe, Yuki Kanno, Satoshi Abe, Makiko Miyata, Takamasa Sato, Satoshi Suzuki, Masayoshi Oikawa, Atsushi Kobayashi, Takayoshi Yamaki, Hiroyuki Kunii, Kazuhiko Nakazato, Takafumi Ishida, Yasuchika Takeishi
Titin is associated with myocardial stiffness and hypertrophy, and mutations in its gene have been identified in cardiac myopathies such as dilated cardiomyopathy (DC). It has recently been reported that in damaged muscle, the N-terminal fragment of titin (Titin-N) is cleaved by calpain-3, and urinary Titin-N (U-TN) could be a marker of sarcomere damage. We aimed to investigate the impact of U-TN on prognosis of DC. We measured urinary levels of Titin-N/creatinine ratio (U-TN/Cr; pmol/mg/dl) in 102 patients with DC, and followed up all the patients (mean 1,167 days)...
February 12, 2018: American Journal of Cardiology
https://www.readbyqxmd.com/read/29523065/amyloid-properties-of-titin
#10
REVIEW
E I Yakupova, I M Vikhlyantsev, M Y Lobanov, O V Galzitskaya, A G Bobylev
This review considers data on structural and functional features of titin, on the role of this protein in determination of mechanical properties of sarcomeres, and on specific features of regulation of the stiffness and elasticity of its molecules, amyloid aggregation of this protein in vitro, and possibilities of formation of intramolecular amyloid structure in vivo. Molecular mechanisms are described of protection of titin against aggregation in muscle cells. Based on the data analysis, it is supposed that titin and the formed by it elastic filaments have features of amyloid...
December 2017: Biochemistry. Biokhimii︠a︡
https://www.readbyqxmd.com/read/29522220/titin-cardiomyopathy-why-we-need-to-go-big-to-understand-the-giant
#11
Upasana Tayal, Sanjay K Prasad
No abstract text is available yet for this article.
March 7, 2018: European Heart Journal
https://www.readbyqxmd.com/read/29518215/molecular-basis-of-titin-exon-exclusion-by-rbm20-and-the-novel-titin-splice-regulator-ptb4
#12
Vita Dauksaite, Michael Gotthardt
RNA-binding motif protein 20 (RBM20) is a cardiac splice regulator that adapts cardiac filling via its diverse substrates-including the sarcomeric protein titin. The molecular basis and regulation of RBM20-dependent exon exclusion are largely unknown. In tissue culture experiments, we show that the combination of RNA recognition motif (RRM) and C-terminus is necessary and sufficient for RBM20 activity, indicating an important function of the ZnF2 domain in splicing repression. Using splice reporter and in vitro binding assays targeting titin exons 241-243, we identified a minimal genomic segment that is necessary for RBM20-mediated splicing repression of the alternative exon...
March 6, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29472025/aortic-stenosis-and-aortic-regurgitation-express-different-titin-isoforms-differences-and-relationships-with-functional-and-geometric-characteristics
#13
Vito Mannacio, Luigi Mannacio, Anita Antignano, Vincenzo De Amicis, Francesco Musumeci, Gabriele Iannelli
Background-Titin represents an important biomechanical sensor which determines compliance and diastolic/systolic function of the left ventricle (LV). To assess the different titin-isoform expression and the relationships with functional and geometric patterns, we analyzed titin-isoform expression and cardiomyocytes contractile function in myocardial biopsy samples of patients undergoing aortic valve replacement (AVR) for aortic stenosis (AS) and for aortic regurgitation (AR). Method -Specimens, collected from the LV of 35 with AS and 35 with AR undergoing AVR were analyzed for titin-isoform expression and cardiomyocytes force measurement...
February 2, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29437146/histone-deacetylase-activity-governs-diastolic-dysfunction-through-a-nongenomic-mechanism
#14
Mark Y Jeong, Ying H Lin, Sara A Wennersten, Kimberly M Demos-Davies, Maria A Cavasin, Jennifer H Mahaffey, Valmen Monzani, Chandrasekhar Saripalli, Paolo Mascagni, T Brett Reece, Amrut V Ambardekar, Henk L Granzier, Charles A Dinarello, Timothy A McKinsey
There are no approved drugs for the treatment of heart failure with preserved ejection fraction (HFpEF), which is characterized by left ventricular (LV) diastolic dysfunction. We demonstrate that ITF2357 (givinostat), a clinical-stage inhibitor of histone deacetylase (HDAC) catalytic activity, is efficacious in two distinct murine models of diastolic dysfunction with preserved EF. ITF2357 blocked LV diastolic dysfunction due to hypertension in Dahl salt-sensitive (DSS) rats and suppressed aging-induced diastolic dysfunction in normotensive mice...
February 7, 2018: Science Translational Medicine
https://www.readbyqxmd.com/read/29435569/interpreting-genetic-variants-in-titin-in-patients-with-muscle-disorders
#15
Marco Savarese, Lorenzo Maggi, Anna Vihola, Per Harald Jonson, Giorgio Tasca, Lucia Ruggiero, Luca Bello, Francesca Magri, Teresa Giugliano, Annalaura Torella, Anni Evilä, Giuseppina Di Fruscio, Olivier Vanakker, Sara Gibertini, Liliana Vercelli, Alessandra Ruggieri, Carlo Antozzi, Helena Luque, Sandra Janssens, Maria Barbara Pasanisi, Chiara Fiorillo, Monika Raimondi, Manuela Ergoli, Luisa Politano, Claudio Bruno, Anna Rubegni, Marika Pane, Filippo M Santorelli, Carlo Minetti, Corrado Angelini, Jan De Bleecker, Maurizio Moggio, Tiziana Mongini, Giacomo Pietro Comi, Lucio Santoro, Eugenio Mercuri, Elena Pegoraro, Marina Mora, Peter Hackman, Bjarne Udd, Vincenzo Nigro
Importance: Mutations in the titin gene (TTN) cause a wide spectrum of genetic diseases. The interpretation of the numerous rare variants identified in TTN is a difficult challenge given its large size. Objective: To identify genetic variants in titin in a cohort of patients with muscle disorders. Design, Setting, and Participants: In this case series, 9 patients with titinopathy and 4 other patients with possibly disease-causing variants in TTN were identified...
February 12, 2018: JAMA Neurology
https://www.readbyqxmd.com/read/29435554/understanding-titin-variants-in-the-age-of-next-generation-sequencing-a-titanic-challenge
#16
Carsten G Bönnemann
No abstract text is available yet for this article.
February 12, 2018: JAMA Neurology
https://www.readbyqxmd.com/read/29433413/the-work-of-titin-protein-folding-as-a-major-driver-in-muscle-contraction
#17
Edward C Eckels, Rafael Tapia-Rojo, Jamie Andrés Rivas-Pardo, Julio M Fernández
Single-molecule atomic force microscopy and magnetic tweezers experiments have demonstrated that titin immunoglobulin (Ig) domains are capable of folding against a pulling force, generating mechanical work that exceeds that produced by a myosin motor. We hypothesize that upon muscle activation, formation of actomyosin cross bridges reduces the force on titin, causing entropic recoil of the titin polymer and triggering the folding of the titin Ig domains. In the physiological force range of 4-15 pN under which titin operates in muscle, the folding contraction of a single Ig domain can generate 200% of the work of entropic recoil and occurs at forces that exceed the maximum stalling force of single myosin motors...
February 10, 2018: Annual Review of Physiology
https://www.readbyqxmd.com/read/29417940/inverse-changes-in-plasma-tetranectin-and-titin-levels-in-patients-with-type-2-diabetes-mellitus-a-potential-predictor-of-acute-myocardial-infarction
#18
Mohd Aizat Abdul Rahim, Zubaidah Haji Abdul Rahim, Wan Azman Wan Ahmad, Marina Mohd Bakri, Muhammad Dzafir Ismail, Onn Haji Hashim
An early intervention using biomarkers to predict acute myocardial infarction (AMI) will effectively reduce global heart attack incidence, particularly among high-risk patients with type 2 diabetes mellitus (T2DM). This study attempted to identify potential biomarkers by detecting changes in the levels of plasma proteins in T2DM patients following onset of AMI in comparison with those without AMI. Volunteer T2DM patients without AMI (control; n=10) and T2DM patients with AMI (n=10) were recruited. Plasma samples from these patients were evaluated via two-dimensional gel electrophoresis (2DE) to screen for proteins with level changes between the two groups...
February 8, 2018: Acta Pharmacologica Sinica
https://www.readbyqxmd.com/read/29408381/autophosphorylation-is-a-mechanism-of-inhibition-in-twitchin-kinase
#19
Rhys M Williams, Barbara Franke, Mark Wilkinson, Jennifer R Fleming, Daniel J Rigden, Guy M Benian, Patrick A Eyers, Olga Mayans
Titin-like kinases are muscle-specific kinases that regulate mechanical sensing in the sarcomere. Twitchin kinase (TwcK) is the best-characterized member of this family, both structurally and enzymatically. TwcK activity is auto-inhibited by a dual intrasteric mechanism, in which N- and C-terminal tail extensions wrap around the kinase domain, blocking the hinge region, the ATP binding pocket and the peptide substrate binding groove. Physiologically, kinase activation is thought to occur by a stretch-induced displacement of the inhibitory tails from the kinase domain...
February 3, 2018: Journal of Molecular Biology
https://www.readbyqxmd.com/read/29401264/stretch-induced-compliance-a-novel-adaptive-biological-mechanism-following-acute-cardiac-load
#20
André M Leite-Moreira, João Almeida-Coelho, João S Neves, Ana L Pires, João Ferreira-Martins, Ricardo Castro-Ferreira, Ricardo Ladeiras-Lopes, Glória Conceição, Daniela Miranda-Silva, Patrícia Rodrigues, Nazha Hamdani, Melissa Herwig, Inês Falcão-Pires, Walter J Paulus, Wolfgang A Linke, André P Lourenço, Adelino F Leite-Moreira
Aims: The heart is constantly challenged with acute bouts of stretching or overload. Systolic adaptations to these challenges are known but adaptations in diastolic stiffness remain unknown. We evaluated adaptations in myocardial stiffness due to acute stretching and characterized the underlying mechanisms. Methods and Results: Left ventricles (LV) of intact rat hearts, rabbit papillary muscles and myocardial strips from cardiac surgery patients were stretched. After stretching, there was a sustained >40% decrease in end-diastolic pressure (EDP) or passive tension (PT) for 15 minutes in all species and experimental preparations...
February 1, 2018: Cardiovascular Research
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