Heart failure: advances through genomics

Heart failure is an increasingly prevalent and highly lethal disease that is most often caused by underlying pathologies, such as myocardial infarction or hypertension, but it can also be the result of a single gene mutation. Comprehensive genetic and genomic approaches are starting to disentangle the diverse molecular underpinnings of both forms of the disease and promise to yield much-needed novel diagnostic and therapeutic options for specific subtypes of heart failure.

[1]  E. Olson,et al.  The Mevalonate Pathway Controls Heart Formation in Drosophila by Isoprenylation of Gγ1 , 2006, Science.

[2]  J. Lorenz,et al.  Physiological Functions of Plasma Membrane and Intracellular Ca2+ Pumps Revealed by Analysis of Null Mutants , 2003, Annals of the New York Academy of Sciences.

[3]  C. Croce,et al.  MicroRNA-133 controls cardiac hypertrophy , 2007, Nature Medicine.

[4]  J. Stockman.  Genetic Variants Associated With Cardiac Structure and Function: A Meta-analysis and Replication of Genome-wide Association Data , 2011 .

[5]  R. Duisters,et al.  Thrombospondin-2 Is Essential for Myocardial Matrix Integrity: Increased Expression Identifies Failure-Prone Cardiac Hypertrophy , 2004, Circulation research.

[6]  Ja Johnson,et al.  Cardiovascular Pharmacogenomics of Adrenergic Receptor Signaling: Clinical Implications and Future Directions , 2011, Clinical pharmacology and therapeutics.

[7]  E. Olson,et al.  MicroRNAs add a new dimension to cardiovascular disease. , 2010, Circulation.

[8]  Roger J Hajjar,et al.  Titin Isoform Switch in Ischemic Human Heart Disease , 2002, Circulation.

[9]  L. Mestroni,et al.  Genetic evaluation of cardiomyopathy--a Heart Failure Society of America practice guideline. , 2009, Journal of cardiac failure.

[10]  D. Roden,et al.  A genetic framework for improving arrhythmia therapy , 2008, Nature.

[11]  Perry D Moerland,et al.  MiR423-5p As a Circulating Biomarker for Heart Failure , 2010, Circulation research.

[12]  Chun Li Zhang,et al.  Class II Histone Deacetylases Act as Signal-Responsive Repressors of Cardiac Hypertrophy , 2002, Cell.

[13]  Thomas Meitinger,et al.  Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data. , 2009, JAMA.

[14]  George C Tseng,et al.  Microarray gene expression profiles in dilated and hypertrophic cardiomyopathic end-stage heart failure. , 2002, Physiological genomics.

[15]  D. Kleinjan,et al.  Long-range control of gene expression: emerging mechanisms and disruption in disease. , 2005, American journal of human genetics.

[16]  S. Ikeda,et al.  Heart Failure–Associated Changes in RNA Splicing of Sarcomere Genes , 2010, Circulation. Cardiovascular genetics.

[17]  Stephan Beck,et al.  Epigenetic variation and inheritance in mammals. , 2006, Current opinion in genetics & development.

[18]  W. Rottbauer,et al.  MicroRNA-21 contributes to myocardial disease by stimulating MAP kinase signalling in fibroblasts , 2008, Nature.

[19]  W. Paulus,et al.  Peripartum Cardiomyopathy as a Part of Familial Dilated Cardiomyopathy , 2010, Circulation.

[20]  A. Visel,et al.  ChIP-Seq identification of weakly conserved heart enhancers , 2010, Nature Genetics.

[21]  G. Dorn.  Pharmacogenetic profiling in the treatment of heart disease. , 2009, Translational research : the journal of laboratory and clinical medicine.

[22]  Derek J Van Booven,et al.  Deep mRNA Sequencing for In Vivo Functional Analysis of Cardiac Transcriptional Regulators: Application to G&agr;q , 2010, Circulation research.

[23]  R. Quaife,et al.  Myocardial gene expression in dilated cardiomyopathy treated with beta-blocking agents. , 2002, The New England journal of medicine.

[24]  Michael D Schneider,et al.  Learning from failure: congestive heart failure in the postgenomic age. , 2005, The Journal of clinical investigation.

[25]  Peter A. Jones,et al.  Epigenetics in cancer. , 2010, Carcinogenesis.

[26]  A. Uitterlinden,et al.  Genetic determinants of treatment benefit of the angiotensin-converting enzyme-inhibitor perindopril in patients with stable coronary artery disease. , 2010, European heart journal.

[27]  G. Lanfranchi,et al.  Differential gene expression profiling in genetic and multifactorial cardiovascular diseases. , 2006, Journal of molecular and cellular cardiology.

[28]  Derek J Van Booven,et al.  Loss-of-function DNA sequence variant in the CLCNKA chloride channel implicates the cardio-renal axis in interindividual heart failure risk variation , 2011, Proceedings of the National Academy of Sciences.

[29]  Emily H Turner,et al.  Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome , 2010, Nature Genetics.

[30]  E. Olson,et al.  The many roles of histone deacetylases in development and physiology: implications for disease and therapy , 2009, Nature Reviews Genetics.

[31]  Y. Pinto,et al.  Molecular mechanisms that control interstitial fibrosis in the pressure-overloaded heart. , 2011, Cardiovascular research.

[32]  P. Ellinor,et al.  Utility of amino-terminal pro-brain natriuretic peptide, galectin-3, and apelin for the evaluation of patients with acute heart failure. , 2006, Journal of the American College of Cardiology.

[33]  R. Hauer,et al.  One Mutation Fits All: Phospholamban R14del Causes Both Dilated Cardiomyopathy and Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia , 2010 .

[34]  Eric Boerwinkle,et al.  Association of Genome-Wide Variation With the Risk of Incident Heart Failure in Adults of European and African Ancestry: A Prospective Meta-Analysis From the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium , 2010, Circulation. Cardiovascular genetics.

[35]  Dan M Roden,et al.  Drug-Sensitized Zebrafish Screen Identifies Multiple Genes, Including GINS3, as Regulators of Myocardial Repolarization , 2009, Circulation.

[36]  M. Gerstein,et al.  Variation in Transcription Factor Binding Among Humans , 2010, Science.

[37]  H. Watkins,et al.  Heterozygous disruption of SERCA2a is not associated with impairment of cardiac performance in humans: implications for SERCA2a as a therapeutic target in heart failure , 2005, Heart.

[38]  D. Levy,et al.  Association of parental heart failure with risk of heart failure in offspring. , 2006, The New England journal of medicine.

[39]  David A. Kass,et al.  Tackling heart failure in the twenty-first century , 2008, Nature.

[40]  S. Kauppinen,et al.  LNA-mediated microRNA silencing in non-human primates , 2008, Nature.

[41]  N. Craddock,et al.  Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease , 1999, Nature Genetics.

[42]  A. Hofman,et al.  Genomic Variation Associated With Mortality Among Adults of European and African Ancestry With Heart Failure: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium , 2010, Circulation. Cardiovascular genetics.

[43]  Xiaoxia Qi,et al.  Control of Stress-Dependent Cardiac Growth and Gene Expression by a MicroRNA , 2007, Science.

[44]  E. Creemers,et al.  Coactivation of MEF2 by the SAP domain proteins myocardin and MASTR. , 2006, Molecular cell.

[45]  Cole Trapnell,et al.  Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation. , 2010, Nature biotechnology.

[46]  B. Swynghedauw,et al.  Molecular mechanisms of myocardial remodeling. , 1999, Physiological reviews.

[47]  T. Down,et al.  Differential DNA Methylation Correlates with Differential Expression of Angiogenic Factors in Human Heart Failure , 2010, PloS one.

[48]  Florian Caiment,et al.  A mutation creating a potential illegitimate microRNA target site in the myostatin gene affects muscularity in sheep , 2006, Nature Genetics.