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A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Angiotensin-I converting enzyme genotypes and left ventricular hypertrophy in patients with hypertrophic cardiomyopathy. Bowles, Kathryn H. The Journal of Cardiovascular Nursing. ACE genotype and ACE inhibitors induced renoprotection in chronic proteinuric nephropathies. Osterop AP, Kofflard MJ, Sandkuijl LA, et al. Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. Lee M-H, Lu K, Hazard S, et al. Science 2001;293:1107-1112, 13. Seidman JG, Seidman C. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Favorites; PDF. Molecular and cellular mechanisms of cardiac arrhythmias. N Engl J Med 2002;347:1135-1142, 65. Transcriptome analysis reveals a role of interferon-γ in human neointima formation. To determine genetic variants in myocardial infarction, Yamada and colleagues examined the prevalence of 112 polymorphisms in 71 candidate genes in patients with myocardial infarction and control patients in Japan.62 The analysis revealed one statistically significant association in men (a cytosine-to-thymine polymorphism at nucleotide 1019 in the connexin 37 gene) and two in women (the replacement of four guanines with five guanines at position –668 [4G–668/5G] in the plasminogen-activator inhibitor type 1 gene and the replacement of five adenines with six adenines at position –1171 [5A–1171/6A] in the stromelysin-1 gene), suggesting that these single-nucleotide polymorphisms may confer susceptibility to myocardial infarction in this population. Familial hypercholesterolemia was the first monogenic disorder shown to cause elevated plasma cholesterol levels. (Adapted from Kamisago et al.32). Capillaries in muscle and adipose tissue remove the triglycerides, and the lipid particle is modified into an LDL, with its cholesteryl ester core and apolipoprotein B-100 coat. N Engl J Med 1998;338:86-93, 86. Lechin M, Quinones MA, Omran A, et al. Monogenic Diseases That Elevate Plasma Levels of Low-Density Lipoprotein (LDL) Cholesterol. Missense mutations in hWNK4, on chromosome 17, also cause pseudohypoaldosteronism type II. Microarrays are artificially constructed grids of DNA in which each element of the grid acts as a probe for a specific RNA sequence; each grid holds a DNA sequence that is a reverse complement to the target RNA sequence. Glazier AM, Nadeau JH, Aitman TJ. 10/8C103, 10 Center Dr., Bethesda, MD 20892, or at [email protected]. Madison, WI 53703, National Office Hours Cancer Cell 2003;3:185-197, 89. Nature 1998;392:293-296, 50. Sakaeda T, Nakamura T, Horinouchi M, et al. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. The pathologic features of hypertrophic cardiomyopathy consist of marked left ventricular hypertrophy, a thickened ventricular septum, atrial enlargement, and a small left ventricular cavity. A sodium-channel mutation causes isolated cardiac conduction disease. Mohlke KL, Erdos MR, Scott LJ, et al. Genomics of cardiovascular development, adaptation, and remodeling. NHLBI fact book, fiscal year 2002. O'Toole L, Stewart M, Padfield P, Channer K. Effect of the insertion/deletion polymorphism of the angiotensin-converting enzyme gene on response to angiotensin-converting enzyme inhibitors in patients with heart failure. Simon DB, Nelson-Williams C, Bia MJ, et al. Sanguinetti MC, Curran ME, Zou A, et al. Proc Natl Acad Sci U S A 2000;97:10613-10618, 87. These mutations, which impair renal salt handling, provide a molecular basis for understanding the pathogenesis of hypertension (Figure 2).11. The most effective and engaging way for clinicians to learn, improve their practice, and prepare for board exams. Complex promoter and coding region beta 2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness. Nature 1996;384:80-83, 57. There are an estimated 62 million people with cardiovascular disease and 50 million people with hypertension in this country.1 In 2000, approximately 946,000 deaths were attributable to cardiovascular disease, accounting for 39 percent of all deaths in the United States.2 Epidemiologic studies and randomized clinical trials have provided compelling evidence that coronary heart disease is largely preventable.3 However, there is also reason to believe that there is a heritable component to the disease. Circulation 2001;104:2641-2644, 64. The Journal of Cardiovascular Nursing is one of the leading journals for nurses in cardiovascular care, providing thorough coverage of timely topics and information that is extremely practical for daily, on-the-job use. N Engl J Med 2003;348:529-537, 66. Cockcroft JR, Gazis AG, Cross DJ, et al. ALLHAT Officers and Coordinators for the ALLHAT Collaborative Research Group. About 13 percent of blacks carry one Y1102 allele,52 which does not cause arrhythmia in most carriers. In a study that examined the effects of agonist-induced desensitization in the vasculature mediated by these polymorphisms, the investigators found that persons who were homozygous for Arg16 had nearly complete desensitization, as determined by measures of venodilation in response to isoproterenol, in contrast to persons homozygous for Gly16 and regardless of the codon 27 status.79 Similarly, persons homozygous for Gln27 had higher maximal venodilation in response to isoproterenol than those homozygous for Glu27, regardless of their codon 16 status. Nature 1992;355:262-265, 14. Cargill M, Altshuler D, Ireland J, et al. Resistance to activated protein C as an additional genetic risk factor in hereditary deficiency of protein S. Blood 1995;85:3518-3523, 28. Liggett SB. Topol EJ, McCarthy J, Gabriel S, et al. Deficiency of lipoprotein transport abolishes transporter activity, resulting in elevated cholesterol absorption and LDL synthesis. : National Heart, Lung, and Blood Institute, February 2003. LDLs circulate in the plasma, and the apolipoprotein B-100 component binds to LDL receptors on the surface of hepatocytes. Normal cortisol production leads to constitutive aldosterone secretion, plasma-volume expansion, hypertension, and suppressed renin levels. Mutations that alter renal ion channels and transporters give rise to Liddle's, Gitelman's, and Bartter's syndromes. N Engl J Med 1998;338:1248-1257, 38. The primary defect in familial hypercholesterolemia is a deficit of LDL receptors, and more than 600 mutations in the LDLR gene have been identified in patients with this disorder.5 One in 500 people is heterozygous for at least one such mutation, whereas only 1 in a million is homozygous at a single locus. Cell 1995;81:299-307, 54. 8th ed. Garcia CK, Wilund K, Arca M, et al. Address reprint requests to Dr. Nabel at the National Heart, Lung, and Blood Institute, Bldg. Anticoagulant protein C pathway defective in majority of thrombophilic patients. Although many single genes have been identified as the basis of monogenic cardiovascular disorders, fewer genes underlying common complex cardiovascular diseases have been identified.58 Multiple risk factors, gene–environment interactions, and an absence of rough estimates of the number of genes that influence a single trait all complicate study design. Rosendaal FR, Koster T, Vandenbroucke JP, Reitsma PH. Official journal of the Preventive Cardiovascular Nurses Association, Journal of Cardiovascular Nursing is one of the leading journals for advanced practice nurses in cardiovascular care, providing thorough coverage of timely topics and information that is extremely practical for daily, on-the-job use. Small KM, Wagoner LE, Levin AM, Kardia SLR, Liggett SB. Keating MT, Sanguinetti MC. Current initiatives focus on the natural history of monogenic disorders in large numbers of patients with specific mutations, in order to identify persons at high risk for cardiovascular events, asymptomatic carriers in whom pharmacologic interventions will retard or prevent disease, and nonaffected family members whose concern about their health can be addressed. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. A common variant in the factor V gene, one encoding the substitution of glutamine for arginine at position 506 (Arg506Gln), prevents the degradation of factor V and promotes clot formation. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. Association between angiotensin-converting enzyme gene polymorphisms and regression of left ventricular hypertrophy in patients treated with angiotensin-converting enzyme inhibitors. 28(6):E47-E54, November/December 2013. Pseudohypoaldosteronism type II is an autosomal dominant disorder characterized by hypertension, hyperkalemia, increased renal salt reabsorption, and impaired potassium- and hydrogen-ion excretion. ], 16. Cell 1995;80:805-811, 48. The kidney filters more than 180 liters of plasma (containing 23 moles of salt) daily and reabsorbs more than 99 percent of the filtered sodium. Ortlepp JR, Vosberg HP, Reith S, et al. Blood 1993;82:1989-1993, 22. Information and tools for librarians about site license offerings. The identical sarcomere mutation can cause different hypertrophic changes and clinical outcomes among kindreds, even within the same pedigree.38,39 Gene modifiers, the environment, sex, and acquired conditions (such as ischemic or valvular heart disease) may account for these differences. Nat Genet 2001;27:79-83, 9. Maron BJ, Moller JH, Seidman CE, et al. ), Hypertension is the most common disease in industrialized nations, with a prevalence above 20 percent in the general population. Conversely, a decrease in hepatic cholesterol stimulates the transcription of LDL-receptor genes, removing LDL from the plasma. Beta-2 adrenoreceptor polymorphism determines vascular reactivity in humans. Roberts R, Sigwart U. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Cell 2001;104:569-580, 46. The distal convoluted tubule reabsorbs about 7 percent by sodium–chloride cotransporters, and the remaining 3 percent of the filtered sodium is handled by epithelial sodium channels in the cortical collecting tubule. Highlights. Biochem Biophys Res Commun 1992;182:974-979[Erratum, Biochem Biophys Res Commun 1992;184:1529-30. Ballantyne CM, Herd JA, Stein EA, et al. Splawski I, Timothy KW, Tateyama M, et al. Autosomal recessive hypercholesterolemia is extremely rare (prevalence, <1 case per 10 million persons). Abnormalities in the activity of aldosterone synthase produce hypertension or hypotension. The standard JCN subscription rate is $152, but PCNA members receive JCN and many other clinical tools and educational opportunities for only $85 in annual membership dues. Marian AJ, Safavi F, Ferlic L, Dunn JK, Gotto AM, Ballantyne CM. RyR2 mutations cause catecholaminergic ventricular tachycardia. Through receptor-mediated endocytosis, receptor-bound LDLs enter hepatocytes and undergo degradation in lysosomes, and the cholesterol remnants enter a cellular cholesterol pool. Dishy V, Sofowora GG, Xie H-G, et al. Monogenic Diseases That Cause Susceptibility to Arrhythmias. 8th ed. Abstract. Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase. The proximal tubule of the nephron reabsorbs about 60 percent of the filtered sodium, primarily by sodium–hydrogen ion exchange. MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. Circulation 2001;104:2113-2116, 37. Diabetes 1998;47:1507-1511, 78. Finding genes that underlie complex traits. 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