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Cardiac genetics

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https://www.readbyqxmd.com/read/27922501/an-overview-of-congenital-myopathies
#1
Jean K Mah, Jeffrey T Joseph
PURPOSE OF REVIEW: This article uses a case-based approach to highlight the clinical features as well as recent advances in molecular genetics, muscle imaging, and pathophysiology of the congenital myopathies. RECENT FINDINGS: Congenital myopathies refer to a heterogeneous group of genetic neuromuscular disorders characterized by early-onset muscle weakness, hypotonia, and developmental delay. Congenital myopathies are further classified into core myopathies, centronuclear myopathies, nemaline myopathies, and congenital fiber-type disproportion based on the key pathologic features found in muscle biopsies...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27920829/clinical-and-genetic-features-of-australian-families-with-long-qt-syndrome-a-registry-based-study
#2
Charlotte Burns, Jodie Ingles, Andrew M Davis, Vanessa Connell, Belinda Gray, Lauren Hunt, Julie McGaughran, Christopher Semsarian
BACKGROUND: Familial long QT syndrome (LQTS) is a primary arrhythmogenic disorder caused by mutations in ion channel genes. The phenotype ranges from asymptomatic individuals to sudden cardiac arrest and death. LQTS is a rare but significant health problem for which global data should exist. This study sought to provide the first clinical and genetic description of Australian families with LQTS. METHODS: We performed a cross-sectional study to evaluate clinical and genetic features of families with LQTS...
December 2016: Journal of Arrhythmia
https://www.readbyqxmd.com/read/27917693/identification-of-kcnq1-compound-heterozygous-mutations-in-three-chinese-families-with-jervell-and-lange-nielsen-syndrome
#3
Cuicui Wang, Yu Lu, Jing Cheng, Lei Zhang, Wei Liu, Weihua Peng, Di Zhang, Hong Duan, Dongyi Han, Huijun Yuan
CONCLUSION: Besides expanding the spectrum of KCNQ1 mutations causing Jervell and Lange-Nielsen Syndrome (JLNS), the results showed diversity of its phenotypes, and emphasized the importance of molecular genetic analysis in confirming clinical diagnosis and making diagnosis possible before the emergency symptoms for deaf individuals. OBJECTIVES: This study aimed to investigate four patients from three Chinese families with congenital hearing loss clinically and genetically...
December 5, 2016: Acta Oto-laryngologica
https://www.readbyqxmd.com/read/27915266/systematic-ajmaline-challenge-in-patients-with-long-qt-3-syndrome-caused-by-the-most-common-mutation-a-multicentre-study
#4
Stephan Hohmann, Boris Rudic, Torsten Konrad, David Duncker, Thorben König, Erol Tülümen, Thomas Rostock, Martin Borggrefe, Christian Veltmann
AIMS: Overlap syndromes of long QT 3 syndrome (LQT3) and the Brugada syndrome (BrS) have been reported. Identification of patients with an overlapping phenotype is crucial before initiation of Class I antiarrhythmic drugs for LQT3. Aim of the present study was to elucidate the yield of ajmaline challenge in unmasking the Brugada phenotype in patients with LQT3 caused by the most common mutation, SCN5A-E1784K. METHODS AND RESULTS: Consecutive families in tertiary referral centres diagnosed with LQT3 caused by SCN5A-E1784K were included in the study...
December 2, 2016: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/27913812/association-between-cytokines-and-their-receptor-antagonist-gene-polymorphisms-and-clinical-risk-factors-and-acute-rejection-following-renal-transplantation
#5
SIqing Ding, Jianfei Xie, Qiquan Wan
BACKGROUND Acute rejection (AR) after renal transplantation affects both patient and graft survival. There is growing evidence of the genetic association between cytokine or its receptor antagonist and AR in solid organ transplantation. The objectives of this study were to investigate the role of recipient TNF β, IL-10, IL-1β, and IL-1 receptor antagonist (ra) gene polymorphism, as well as traditional clinical variables such as panel-reactive antibody (PRA) levels, donor type, and HLA mismatches in AR following renal transplantation...
December 3, 2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/27911380/method-for-identifying-small-molecule-inhibitors-of-the-protein-protein-interaction-between-hcn1-and-trip8b
#6
Ye Han, Kyle A Lyman, Matt Clutter, Gary E Schiltz, Quratul-Ain Ismail, Xiangying Cheng, Chi-Hao Luan, Dane M Chetkovich
Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels are expressed ubiquitously throughout the brain, where they function to regulate the excitability of neurons. The subcellular distribution of these channels in pyramidal neurons of hippocampal area CA1 is regulated by tetratricopeptide repeat-containing Rab8b interacting protein (TRIP8b), an auxiliary subunit. Genetic knockout of HCN pore forming subunits or TRIP8b, both lead to an increase in antidepressant-like behavior, suggesting that limiting the function of HCN channels may be useful as a treatment for Major Depressive Disorder (MDD)...
November 11, 2016: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/27910804/sudden-cardiac-death-a-nationwide-cohort-study-among-the-young
#7
Bjarke Risgaard
Sudden cardiac death (SCD) is a tragic event affecting millions of individuals worldwide. Although several studies have investigated the epidemiology of SCD, these studies may have been affected by reporting and referral biases, which are reflected in the very different incidence rates and causes of deaths that have previously been reported. Among SCD victims aged < 36 years, inherited cardiac diseases are well known to play an important role. However, the extent to which inherited cardiac diseases also play a role in SCD victims aged < 50 years has not been completely described...
December 2016: Danish Medical Journal
https://www.readbyqxmd.com/read/27910049/gene-transfer-in-cardiomyocytes-derived-from-es-and-ips-cells
#8
Francesca Stillitano, Ioannis Karakikes, Roger J Hajjar
The advent of human induced pluripotent stem cell (hiPSC) technology has produced patient-specific hiPSC derived cardiomyocytes (hiPSC-CMs) that can be used as a platform to study cardiac diseases and to explore new therapies.The ability to genetically manipulate hiPSC-CMs not only is essential for identifying the structural and/or functional role of a protein but can also provide valuable information regarding therapeutic applications. In this chapter, we describe protocols for culture, maintenance, and cardiac differentiation of hiPSCs...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27910046/exosomes-based-gene-therapy-for-microrna-delivery
#9
Prabhu Mathiyalagan, Susmita Sahoo
Despite recent advances in scientific knowledge and clinical practice, cardiovascular disease management and treatment remain a major burden. While several treatment strategies using drugs and surgeries are being developed for cardiovascular manifestations, gene-based therapies hold significant promise. Recent findings from our laboratory unveiled a novel mechanism that exosomes, secreted nanovesicles from stem cells, mediate cardiac repair via transferring their unique repertoire of microRNAs (miRNA) to recipient cells in the heart...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27909891/canola-oil-rich-in-oleic-acid-improves-diastolic-heart-function-in-diet-induced-obese-rats
#10
Sijo Joseph Thandapilly, Pema Raj, Xavier Lieben Louis, Danielle Perera, Prasanga Yamanagedara, Peter Zahradka, Carla G Taylor, Thomas Netticadan
Obesity is a leading cause of cardiovascular disease. It directly affects heart structure and function and contributes to heart failure. Diet is a major factor involved in the development of obesity along with genetic factors. We examined the effects of monounsaturated and polyunsaturated fatty acid-rich oils on cardiac structure and function in the diet-induced rodent model of obesity (DIO). Obese prone (OP) rats were fed a high-fat diet (HF; 55% of kcal) for 12 weeks; Sprague-Dawley rats fed commercial chow served as control...
December 1, 2016: Journal of Physiological Sciences: JPS
https://www.readbyqxmd.com/read/27908747/tci-tcii-and-tcvi-trypanosoma-cruzi-samples-from-chagas-disease-patients-with-distinct-clinical-forms-and-critical-analysis-of-in-vitro-and-in-vivo-behavior-response-to-treatment-and-infection-evolution-in-murine-model
#11
Maykon Tavares de Oliveira, Renata Tupinambá Branquinho, Gláucia Diniz Aléssio, Carlos Geraldo Campos Mello, Nívia Carolina Nogueira de Paiva, Cláudia Martins Carneiro, Max Jean de Ornelas Toledo, Alexandre Barbosa Reis, Olindo Assis Martins Filho, Marta de Lana
The clonal evolution of Trypanosoma cruzi sustains scientifically the hypothesis of association between parasite's genetic, biological behavior and possibly the clinical aspects of Chagas disease in patients from whom they were isolated. This study intended to characterize a range of biological properties of TcI, TcII and TcVI T. cruzi samples in order to verify the existence of these associations. Several biological features were evaluated, including in vitro epimastigote-growth, "Vero"cells infectivity and growth, along with in vivo studies of parasitemia, polymorphism of trypomastigotes, cardiac inflammation, fibrosis and response to treatment by nifurtimox during the acute and chronic murine infection...
November 28, 2016: Acta Tropica
https://www.readbyqxmd.com/read/27908351/pim1-kinase-overexpression-enhances-ckit-cardiac-stem-cell-cardiac-repair-following-myocardial-infarction-in-swine
#12
Shathiyah Kulandavelu, Vasileios Karantalis, Julia Fritsch, Konstantinos E Hatzistergos, Viky Y Loescher, Frederic McCall, Bo Wang, Luiza Bagno, Samuel Golpanian, Ariel Wolf, Justin Grenet, Adam Williams, Aaron Kupin, Aaron Rosenfeld, Sadia Mohsin, Mark A Sussman, Azorides Morales, Wayne Balkan, Joshua M Hare
BACKGROUND: Pim1 kinase plays an important role in cell division, survival, and commitment of precursor cells towards a myocardial lineage, and overexpression of Pim1 in ckit(+) cardiac stem cells (CSCs) enhances their cardioreparative properties. OBJECTIVES: The authors sought to validate the effect of Pim1-modified CSCs in a translationally relevant large animal preclinical model of myocardial infarction (MI). METHODS: Human cardiac stem cells (hCSCs, n = 10), hckit(+) CSCs overexpressing Pim1 (Pim1(+); n = 9), or placebo (n = 10) were delivered by intramyocardial injection to immunosuppressed Yorkshire swine (n = 29) 2 weeks after MI...
December 6, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27908349/truncating-flnc-mutations-are-associated-with-high-risk-dilated-and-arrhythmogenic-cardiomyopathies
#13
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/27907103/tbx20-is-an-essential-regulator-of-embryonic-heart-growth-in-zebrafish
#14
Steffen Just, Linda Raphel, Ina M Berger, Anja Bühler, Mirjam Keßler, Wolfgang Rottbauer
The molecular mechanisms that regulate cardiomyocyte proliferation during embryonic heart growth are not completely deciphered yet. In a forward genetic N-ethyl-N-nitrosourea (ENU) mutagenesis screen, we identified the recessive embryonic-lethal zebrafish mutant line weiches herz (whz). Homozygous mutant whz embryos display impaired heart growth due to diminished embryonic cardiomyocyte proliferation resulting in cardiac hypoplasia and weak cardiac contraction. By positional cloning, we found in whz mutant zebrafish a missense mutation within the T-box 20 (Tbx20) transcription factor gene leading to destabilization of Tbx20 protein...
2016: PloS One
https://www.readbyqxmd.com/read/27904993/molecular-mechanisms-of-heart-failure-insights-from-drosophila
#15
Shasha Zhu, Zhe Han, Yan Luo, Yulin Chen, Qun Zeng, Xiushan Wu, Wuzhou Yuan
Heart failure places an enormous burden on health and economic systems worldwide. It is a complex disease that is profoundly influenced by both genetic and environmental factors. Neither the molecular mechanisms underlying heart failure nor effective prevention strategies are fully understood. Fortunately, relevant aspects of human heart failure can be experimentally studied in tractable model animals, including the fruit fly, Drosophila, allowing the in vivo application of powerful and sophisticated molecular genetic and physiological approaches...
December 1, 2016: Heart Failure Reviews
https://www.readbyqxmd.com/read/27903671/sports-related-lung-injury-during-breath-hold-diving
#16
Tanja Mijacika, Zeljko Dujic
The number of people practising recreational breath-hold diving is constantly growing, thereby increasing the need for knowledge of the acute and chronic effects such a sport could have on the health of participants. Breath-hold diving is potentially dangerous, mainly because of associated extreme environmental factors such as increased hydrostatic pressure, hypoxia, hypercapnia, hypothermia and strenuous exercise.In this article we focus on the effects of breath-hold diving on pulmonary function. Respiratory symptoms have been reported in almost 25% of breath-hold divers after repetitive diving sessions...
December 2016: European Respiratory Review: An Official Journal of the European Respiratory Society
https://www.readbyqxmd.com/read/27902393/frequency-of-mycobacterium-chimaera-among-belgian-patients-2015
#17
Karine Soetaert, Christelle Vluggen, Emmanuel André, Raymond Vanhoof, Brigitte Vanfleteren, Vanessa Mathys
Mycobacterium chimaera arouses an increasing public health concern, as this non-tuberculous mycobacterium (NTM) has recently been associated with life-threatening cardiac infections. M. chimaera and Mycobacteriumintracellulare are genetically very close but recently appeared to present different epidemiological and clinical significance. Therefore, it has become important for laboratories to use adequate techniques allowing precise species identification. To date, most commercially available laboratory assays cannot distinguish them and erroneously identify M...
November 2016: Journal of Medical Microbiology
https://www.readbyqxmd.com/read/27899944/epidemiology-and-genetics-of-ventricular-fibrillation-during-acute-myocardial-infarction
#18
REVIEW
Charlotte Glinge, Stefan Sattler, Reza Jabbari, Jacob Tfelt-Hansen
Sudden cardiac death (SCD) from ventricular fibrillation (VF) during coronary artery disease (CAD) is a leading cause of total and cardiovascular mortality, and in more than half of SCD cases VF occurs as the first symptom of CAD. Several epidemiological studies have shown that sudden death of a family member is a risk factor for SCD and VF during acute myocardial infarction (MI), independent of traditional risk factors including family history of MI, suggesting a genetic component in the susceptibility to VF...
September 2016: Journal of Geriatric Cardiology: JGC
https://www.readbyqxmd.com/read/27899143/presymptomatic-diagnosis-of-fabry-s-disease-a-case-report
#19
Rasmus Bo Hasselbalch, Per Lav Madsen, Henning Bundgaard, Juliane Theilade
BACKGROUND: Fabry's disease is a rare X-linked genetic disorder characterized by reduced levels of the α-galactosidase A enzyme. It may present with a cardiac phenotype resembling hypertrophic cardiomyopathy. However, as a specific enzyme replacement therapy is available, it remains an important differential diagnoses in patients presenting with cardiac hypertrophy. In boys, onset has been reported in early childhood with complaints initially comprising neuropathic pain, reduced sweat production, and gastrointestinal symptoms...
November 29, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27898947/study-of-bovine-gene-the-temporal-spatial-expression-patterns-polymorphism-and-association-analysis-with-meat-production-traits
#20
E Juszczuk-Kubiak, K Bujko, M Grześ, M Cymer, K Wicińska, A Szostak, M Pierzchała
The gene () encodes a transcription factor belonging to the MEF2 family that plays an important role in myogenesis by transcriptional regulation of genes involved in skeletal muscle growth and development. Despite the established importance of the factors in the muscular growth and development, the temporal-spatial expression and biological function of have not been reported in cattle. The aim of this study was to analyze the level of expression in the developing longissimus dorsi muscle (LM) of 4 cattle breeds (Polish Holstein-Friesian [HF], Limousine [LIM], Hereford [HER], Polish Red [PR]), differing in terms of meat production and utility type, at 6, 9, and 12 mo of age...
November 2016: Journal of Animal Science
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