Current Problems in Cardiology
Volume 31, Issue 10 , Pages 637-701 , October 2006

Molecular Cardiology and Genetics in the 21st Century—A Primer

References 

  1. Roberts R . Integrated program for the training of cardiovascular fellows in molecular biology . In:  Albertini A ,  Lenfant C ,  Paoletti R editor. Biotechnology in Clinical Medicine . New York: Raven Press; 1987;p. 99–104
  2. Roberts R . Impact for molecular biology in cardiology . Am J Physiol . 1991;261:8–14
  3. Avery O , MacLeod DM , MacCarty M . Studies on the chemical nature of the substance inducing transformation of pneumococcal types . J Exp Med . 1944;79:137–158
  4. Watson JD , Crick FHC . Molecular structure of nucleic acids: a structure for deoxyribose nucleic acid . Nature . 1953;171:737–738
  5. Watson JD , Crick FHC . Genetical implications of the structure of deoxyribonucleic acid . Nature . 1953;171:964–967
  6. Franklin RE , Gosling RG . Molecular configuration in sodium thymonucleate . Nature . 1953;171:740–741
  7. Wilkins MHF , Stokes AR , Wilson HR . Molecular structure of deoxypentose nucleic acids . Nature . 1953;171:738–740
  8. Marmor J , Lane L . Strand separation and specific recombination of deoxyribonucleic acids: biological studies . Proc Natl Acad Sci USA . 1960;46:453–461
  9. Doty P , Marmor J , Eigner J , et al.   Strand separation and specific recombination in deoxyribonucleic acids: physical chemical studies . Proc Natl Acad Sci USA . 1960;46:461–476
  10. Nirenberg M , Matthaei JH . The dependence of cell-free protein synthesis in E. coli upon naturally occurring or synthetic polyribonucleotides . Proc Natl Acad Sci USA . 1961;47:1588–1602
  11. Nishimura S , Jones DS , Khorana HG . The in vitro synthesis of a co-polypeptide containing two amino acids in alternative sequence dependent upon a DNA-like polymer containing two nucleotides in alternating sequence . J Mol Biol . 1981;146:1–21
  12. Olivera BM , Hall ZW , Lehman IR . Enzymatic joining of polynucleotides (V. A DNA adenylate intermediate in the polynucleotide joining reaction) . Proc Natl Acad Sci USA . 1968;61:237–244
  13. Linn S , Arbor W . Host specialty of DNA produced by Escherichia coli (X: In vitro restriction of phage fd replicative form) . Proc Natl Acad Sci USA . 1968;59:1300–1306
  14. Smith HO , Wilcox KW . A restriction enzyme from Hemophilias influenzae (I. Purification and general properties) . J Mol Biol . 1970;51:379–391
  15. Kelly TJ , Smith HO . A restriction enzyme from Hemophilias influenzae (II. Base sequence of the recognition site) . J Mol Biol . 1970;51:393–409
  16. Baltimore D . Viral RNA-dependent DNA polymerase . Nature . 1970;226:1209–1211
  17. Termin HM , Mizutani S . RNA-dependent DNA polymerase in virions of Rous sarcoma virus . Nature . 1970;226:1211–1213
  18. Cohen S , Chang A , Boyer H , et al.   Construction of biological functional bacterial plasmids in vitro . Proc Natl Acad Sci USA . 1973;70:3240–3244
  19. Danna KJ , Nathans D . Specific cleavage of simian virus 40 DNA by restriction endonuclease of Hemophilus influenzae . Proc Natl Acad Sci USA . 1971;68:2913–2917
  20. Sanger F , Air M , Barrel BG , et al.   Nucleotide sequence of bacteriophage phi X174 DNA . Nature . 1977;265:687–695
  21. Maxam AM , Gilbert W . A new method of sequencing DNA . Proc Natl Acad Sci USA . 1977;74:560–564
  22. Gething MJ , Adler B , Boose JA , et al.   Variants of human tissue-type plasminogen activator that lack specific structural domains of the heavy chain . EMBO J . 1988;7:2731–2740
  23. Saiki RK , Scharf S , Faloona F , et al.   Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia . Science . 1985;230:1350–1354
  24. Saiki RK , Gelfand DH , Stoffel S , et al.   Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase . Science . 1988;239:487–491
  25. The Chromosome 21 Mapping and Sequencing Consortium . Nature . 2000;405:311–319
  26. Katsanis N , Worley KC , Lupski JR . An evaluation of the draft human genome sequence . Nat Genet . 2001;29(1):88–91
  27. Altshuler D , Brooks LD , Chakravarti A , et al.   A haplotype map of the human genome—The International HapMap Consortium . Nature . 2005;427:1299–1320
  28. Southern EM . Detection of specific sequences among DNA fragments separated by gel electrophoresis . J Mol Biol . 1975;98:503–517
  29. Roberts R , Towbin J , Parker TG , et al.   A Primer of Molecular Biology . New York: Elsevier Science Publishing Co., Inc; 1992;
  30. Marian AJ , Brugada R , Roberts R . In: Hurst’s the Heart—Chapter 72—Cardiovascular Diseases due to Genetic Abnormalities . 11th ed.. 2004;p. 1747–1783
  31. Ott J . Analysis of human genetic linkage . Baltimore, MD: The Johns Hopkins University Press; 1991;
  32. Geisterfer-Lowrance AA , Kass S , Tanigawa G , et al.   A molecular basis for familial hypertrophic cardiomyopathy: a beta-cardiac myosin heavy chain gene missense mutation . Cell . 1990;62:999–1006
  33. Marian AJ , Roberts R . The molecular genetic basis for hypertrophic cardiomyopathy . J Mol Cell Cardiol . 2001;33(4):655–670
  34. Marian AJ , Yu QT , Workman R , et al.   Angiotensin converting enzyme polymorphism in hypertrophic cardiomyopathy and sudden cardiac death . Lancet . 1993;342:1085–1086
  35. Yamazaki T , Komuro I , Yazaki Y . Role of the renin-angiotensin system in cardiac hypertrophy . Am J Cardiol . 1999;83(12A):53H–57H
  36. Lechin M , Quinones MA , Omran A , et al.   Angiotensin I converting enzyme genotypes and left ventricular hypertrophy in patients with hypertrophic cardiomyopathy . Circulation . 1995;92:1808–1812
  37. Tesson F , Dufour C , Moolman JC , et al.   The influence of the angiotensin I converting enzyme genotype in familial hypertrophic cardiomyopathy varies with the disease gene mutation . J Mol Cell Cardiol . 1997;29:831–838
  38. Pfeufer A , Osterziel KJ , Urata H , et al.   Angiotensin-converting enzyme and heart chymase gene polymorphisms in hyptertrophic cardiomyopathy . Am J Cardiol . 1995;78:362–364
  39. Yoneya K , Okamoto H , Machida M , et al.   Angiotensin-converting enzyme gene polymorphism in Japanese patients with hypertrophic cardiomyopathy . Am Heart J . 1995;130:1089–1093
  40. Yamada Y , Ichihara S , Fujimura T , et al.   Lack of association of polymorphisms of the angiotensin converting enzyme and angiotensionogen genes with nonfamilial hypetrophic or dilated cardiomyopathy . Am J Hypertens . 1997;10:921–928
  41. Osterop AP , Kofflard MI , Sandkuiji LA , et al.   AT1 receptor A/C1166 polymorphism contributes to cardiac hypertrophy in subjects with hypertrophic cardiomyopathy . Hypertension . 1998;32:825–830
  42. Brugada R , Kelsey W , Lechin M , et al.   Role of candidate modifier genes on the phenotypic expression of hypertrophy in patients with hypertrophic cardiomyopathy . J Investig Med . 1997;45:542–551
  43. Patel R , Lim DS , Reddy D , et al.   Variants of trophic factors and expression of cardiac hypertrophy in patients with hypertrophic cardiomyopathy . J Mol Cell Cardiol . 2000;32(12):2369–2377
  44. Yamada Y , Ichihara S , Izawa H , et al.   Association of a G994-T(Val279-Phe) polymorphism of the plasma platelet-activating factor acetylhydrolase gene with myocardial damage in Japanese patients with nonfamilial hypertrophic cardiomyopathy . J Hum Genet . 2001;46:436–441
  45. Niimura H , Bachinski LL , Sangwatanaroj S , et al.   Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy . N Engl J Med . 1998;338(1248):1257
  46. Erdmann J , Raible J , Maki-Abadi J , et al.   Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy . J Am Coll Cardiol . 2001;38:322–330
  47. Fatkin D , McConnell BK , Mudd JO , et al.   An abnormal Ca(2+) response in mutant sarcomere protein-mediated familial hypertrophic cardiomyopathy . J Clin Invest . 2000;106(11):1351–1359
  48. Hasegawa K , Fujiware H , Koshiji M , et al.   Endothelin-1 and its receptor in hypertrophic cardiomyopathy . Hypertension . 1996;27(2):259–264
  49. Li RK , Li G , Mickle DA , et al.   Overexpression of transforming growth factor-beta1 and insulin-like growth factor-I in patients with idiopathic hypertrophic cardiomyopathy . Circulation . 1997;96:874–881
  50. Oberst L , Park J-T , Wu Y , et al.   Decreased left ventricular ejection fraction, detected by 178TA radionuclide angiography in transgenic mice expressing a mutant cardiac troponin T-Gln92: altered function precedes structural abnormalities . Circ Res . 1999; (in press)
  51. Marian AJ , Wu Y , Lim D-S , et al.   A transgenic rabbit model for human hypertrophic cardiomyopathy . J Clin Invest . 1999;104:1683–1692
  52. Lim DS , Lutucuta S , Bachireddy P , et al.   Angiotensin II blockade reverses myocardial fibrosis in a transgenic mouse model of human hypertrophic cardiomyopathy . Circulation . 2001;103(6):789–791
  53. Patel R , Nagueh SF , Tsybouleva N , et al.   Simvastatin induces regression of cardiac hypertrophy and fibrosis and improves cardiac function in a transgenic rabbit model of human hypertrophic cardiomyopathy . Circulation . 2001;104:r27–r34
  54. Tsybouleva N , Zhang L , Chen S , et al.   Aldosterone, through novel signaling proteins, is a fundamental molecular bridge between the genetic defect and the cardiac phenotype of hypertrophic cardiomyopathy . Circulation . 2004;109:r59–r66
  55. Kamisago M , Sharma SD , DePalma SR , et al.   Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy . New Engl J Med . 2000;343:1688–1696
  56. Olson TM , Michels VV , Thibodeau SN , et al.   Actin mutations in dilated cardiomyopathy, a heritable form of heart failure . Science . 1998;280:750–752
  57. Coral-Vazquez R , Cohn RD , Moore SA , et al.   Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy . Cell . 1999;98:465–474
  58. Malhotra SB , Hart KA , Klamut HJ , et al.   Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy . Science . 1988;242:755–759
  59. Muntoni F , Wilson L , Marrosu G , et al.   A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart . J Clin Invest . 1995;96:693–699
  60. Fatkin D , MacRae C , Sasaki T , et al.   Missense Mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease . N Engl J Med . 1999;341:1715–1724
  61. Rosengart TK , Patel SR , Crystal RG . Therapeutic angiogenesis: protein and gene therapy delivery strategies . J Cardiovasc Risk . 1999;6:29–40
  62. Thiene G , Basso C , Danieli G , et al.   Arrhythmogenic right ventricular cardiomyopathy . Trends Cardiovasc Med . 1997;7:84–90
  63. Tsubata S , Bowles KR , Vatta M , et al.   Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy . J Clin Invest . 2000;106(5):655–662
  64. Bonne G , Di Barletta MR , Varnous S , et al.   Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy . Nat Genet . 1999;21:285–288
  65. Bova MP , Yaron O , Huang Q , et al.   Mutation R120G in alphaB-crystallin, which is linked to a desmin-related myopathy, results in an irregular structure and defective chaperone-like function . Proc Natl Acad Sci USA . 1999;96:6137–6142
  66. Corrado D , Fontaine G , Marcus FI , et al.  Study Group on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy of the Working Groups on Myocardial and Pericardial Disease and Arrhythmias of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the World Heart Federation   Arrhythmogenic right ventricular dysplasia/cardiomyopathy: need for an international registry . Circulation . 2000;101(11):E101–E106
  67. McKoy G , Protonotarios N , Crosby A , et al.   Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and wooly hair (Naxos disease) . Lancet . 2000;355:2119–2124
  68. Tiso N , Stephan DA , Nava A , et al.   Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2) . Hum Mol Genet . 2001;10:189–194
  69. Rampazzo A , Nava A , Malacrida S , et al.   Mutation in human desmoplakin domain binding to plakoglobin causes a dominant forum of arrhythmogenic right ventricular cardiomyopathy . Am Hum Genet . 2002;71:1200–1206
  70. Gerull B , Heuser A , Wichter T , et al.   Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy . Nat Genet . 2005;36(11):1162–1164
  71. Roden DM , Lazzara R , Rosen M , et al.   Multiple mechanisms in the Long-QT Syndrome: current knowledge, gaps, and future direction . Circulation . 1996;94(8):1996–2012
  72. Sanguinetti MC , Jiang C , Curran ME , et al.   A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the Ik potassium channelr . Cell . 1995;81:299–307
  73. Barhanin J , Lesage F , Guillemare E , et al.   K(V)LQT1 and lsK (minK) proteins associate to form the I(Ks) cardiac potassium current [see comments] . Nature . 1996;384(6604):78–80
  74. Wang Q , Shen J , Splawski I , et al.   SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome . Cell . 1995;80:805–811
  75. Mohler PJ , Schott JJ , Gramolini AO , et al.   Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death . Nature . 2003;421(6923):634–639
  76. Plaster NM , Tawil R , Tristani-Firouzi M , et al.   Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen’s syndrome . Cell . 2001;105:511–519
  77. Knapp M , Seuchter SA , Baur MP . Two-locus disease models with two marker loci: the power of affected-sib-pair tests . Am J Hum Genet . 1994;55(5):1030–1041
  78. Splawski I , Timothy KW , Tateyama M , et al.   Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia . Science . 2002;297:1333–1336
  79. Chen Q , Kirsch GE , Zhang D , et al.   Genetic basis and molecular mechanism for idiopathic ventricular fibrillation . Nature . 1998;392(6673):293–296
  80. Weiss RM , Barmada MM , Nguyen T , et al.   Clinical and molecular heterogeneity in the Brugaga syndrome: a novel gene locus on chromosome 3 . Circulation . 2002;105:707–713
  81. Bezzina C , Veldkamp MW , van Den Berg MP , et al.   A single Na(+) channel mutation causing both long-QT and Brugada syndromes . Circ Res . 1999;85(12):1206–1213
  82. Kyndt F , Probst V , Potet F , et al.   Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family . Circulation . 2001;104(25):3081–3086
  83. Dumaine R , Towbin JA , Brugada P , et al.   Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent . [see comments] Circ Res . 1999;85(9):803–809
  84. Priori SG , Napolitano C , Tiso N , et al.   Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia . Circulation . 2001;103(2):196–200
  85. Lahat H , Pras E , Olender T , et al.   A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel . Am J Hum Genet . 2001;69(6):1378
  86. Brink PA , Ferreira A , Moolman JC , et al.   Gene for progressive familial heart block type I maps to chromosome 19q13 . Circulation . 1995;91:1633–1640
  87. Schott JJ , Alshinawi C , Kyndt F , et al.   Cardiac conduction defects associate with mutations in SCN5A . Nat Genet . 1999;23(1):20–21 Sep
  88. Gollob MH , Green MS , Tang A , et al.   Identification of a gene responsible for familial Wolff-Parkinson-White syndrome . New Engl J Med . 2001;344(24):1823–1864
  89. Sidhu J , Yadavendra S , Rajawat YS , et al.   Transgenic mouse model of ventricular preecitation and atrioventricular reentrant tachycardia induced by an AMP-activated protein kinase loss-of-function mutation responsible for Wolff-Parkinson-White Syndrome . Circulation . 2005;111:21–29
  90. Dobrev D , Graf E , Wettwer E , et al.   Molecular basis of downregulation of G-protein-coupled inward rectifying K(+) current I(K,ACh) in chronic human atrial fibrillation: decrease in GIRK4 mRNA correlates with reduced I(K,ACh) and muscarinic receptor-mediated shortening of action potentials . Circulation . 2001;104:2551–2557
  91. Chen YH , Xu SJ , Bendahhou S , et al.   KCNQ1 gain-of-function mutation in familial atrial fibrillation . N Engl J Med . 1997;299:251–254
  92. Roberts R . Genetic mechanisms of atrial fibrillation . Nature . 2005; (in press)
  93. Darbar D , Herron K , Ballew JD , et al.   Familial atrial fibrillation is a genetically heterogeneous disorder . J Am Cardiol . 2003;41(12):2185–2192
  94. Brugada R , Tapscott T , Czernuszewicz GZ , et al.   Identification of a genetic locus for familial atrial fibrillation . N Engl J Med . 1997;336:905–911
  95. Blair E , Redwood CS , Ashrafian H , et al.   Mutations in the gamma(2) subunit of AMP-activated protein kinase cause hypertrophic cardiomyopathy: evidence for the central role of energy comp disease pathogenesis . Hum Mol Genet . 2001;10(11):1215–1220
  96. Gollob MH , Seger JJ , Gollob TN , et al.   Novel PRKAG2 mutation in the genetic syndrome of ventricular preexcitation and conduction defects with childhood onset and absence of cardiac hypertrophy . Circulation . 2001;104:3030–3033
  97. Roberts R , Brugada J . Genetic aspects of arrhythmias . Am J Med Genet . 2000;97(4):310
  98. Sidhu J , duanxiang L , Wang A , et al.   Two transgenic animal models expressing human troponin T gene mutations: one exhibiting dilated cardiomyopathy (W141) and the other exhibiting hypertrophic cardiomyopathy (Q92) . Journal of American College of Cardiology . 2004;43:216A; 3-3-
  99. Nuyens D , Stengl M , Dugarmaa S , et al.   Abrupt rate accelerations or premature beats cause life-threatening arrhythmias in mice with long-QT3 syndrome . Nat Med . 2001;7(9):1021–1027
  100. Cerrone M , Colombi B , Santoro M , et al.   Bidirectional ventricular tachycardia and fibrillation elicited in a knock-in mouse model carrier of a mutation in the cardiac ryanodine receptor . Circ Res . 2005;96(10):77–82
  101. Oi S , Haneda T , Osaki J , et al.   Lovastatin prevents angiotensin II-induced cardiac hypertrophy in cultured neonatal rat heart cells . Eur J Pharmacol . 1999;376:139–148
  102. Park HJ , Galper JB . 3-Hydroxy-3-methylglutaryl CoA reductase inhibitors up-regulate transforming growth factor-beta signaling in cultured heart cells via inhibition of geranylgeranylation of RhoA GTPase . Proc Natl Acad Sci USA . 1999;96:11525–11530
  103. Su SF , Hsiao CL , Chu CC , et al.   Effects of pravastatin on left ventricular mass in patients with hyperlipidemia and essential hypertension . Am J Cardiol . 2000;86:514–518
  104. Hinds DA , Stuve LL , Nilsen GB , et al.   Whole-genome patterns of common DNA variation in three human populations . Science . 2005;307:1072–1079

 The authors have no conflict of interest to disclose.

PII: S0146-2806(06)00071-5

doi: 10.1016/j.cpcardiol.2006.05.004

Current Problems in Cardiology
Volume 31, Issue 10 , Pages 637-701 , October 2006

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