Role of somatic mutations in vascular disease formation

Expert Review of Molecular Diagnostics

Volumn 10, Issue 2, 2010, Pages 173-185

  Weakley, Sarah M ^a   Jiang, Jun ^a,b   Kougias, Panagiotis ^a,b   Lin, Peter H ^a,b   Yao, Qizhi ^a,b   Brunicardi, F Charles ^a   Gibbs, Richard A ^a   Chen, Changyi ^a,b  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b MICHAEL E DEBAKEY VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

Atherosclerosis; Human genome project; Mitochondrial DNA; Pulmonary artery hypertension; Somatic mutation

Indexed keywords

MITOCHONDRIAL DNA; TRANSFORMING GROWTH FACTOR BETA;

ALZHEIMER DISEASE; ATHEROGENESIS; ATHEROSCLEROSIS; ATHEROSCLEROTIC PLAQUE; BRAIN DAMAGE; CEREBROVASCULAR DISEASE; CORONARY ARTERY DISEASE; COST EFFECTIVENESS ANALYSIS; DISEASE COURSE; DNA DAMAGE; GENE TARGETING; GENOMICS; HUMAN; MICROSATELLITE INSTABILITY; MORBIDITY; MORTALITY; MUTAGENESIS; NONHUMAN; ONCOGENESIS AND MALIGNANT TRANSFORMATION; OXIDATIVE STRESS; PULMONARY HYPERTENSION; REVIEW; SENESCENCE; SMOOTH MUSCLE FIBER; SOMATIC MUTATION; VASCULAR DISEASE;

DNA DAMAGE; HUMANS; MUTAGENESIS; MUTATION; OXIDATIVE STRESS; VASCULAR DISEASES;

EID: 77949472618     PISSN: 14737159     EISSN: 17448352     Source Type: Journal    
DOI: 10.1586/erm.10.1     Document Type: Review

References (97)

1. Rader DJ, Daugherty A. Translating molecular discoveries into new therapies for atherosclerosis. Nature 451(7181), 904-913 (2008).
2. Lavezzi AM, Ottaviani G, Matturri L. Biology of the smooth muscle cells in human atherosclerosis. APMIS 113(2), 112-121 (2005).
3. Milei J, Ottaviani G, Lavezzi AM et al.. Perinatal and infant early atherosclerotic coronary lesions. Can. J. Cardiol. 24(2), 137-141 (2008).
4. Matturri L, Lavezzi AM, Ottaviani G, Rossi L. Intimal preatherosclerotic thickening of the coronary arteries in human fetuses of smoker mothers. J. Thromb. Haemost. 1(10), 2234-2238 (2003).
5. Stary HC. Natural history and histological classification of atherosclerotic lesions: an update. Arterioscler. Thromb. Vasc. Biol. 20(5), 1177-1178 (2000).
6. Fuster V, Moreno PR, Fayad ZA, Corti R, Badimon JJ. Atherothrombosis and high-risk plaque: part I: evolving concepts. J. Am. Coll. Cardiol. 46(6), 937-954 (2005).
7. Benditt EP, Benditt JM. Evidence for a monoclonal origin of human atherosclerotic plaques. Proc. Natl Acad. Sci. USA 70(6), 1753-1756 (1973).
8. Roy H, Bhardwaj S, Yla-Herttuala S. Molecular genetics of atherosclerosis. Hum. Genet. 125(5-6), 467-491 (2009).
9. Andreassi MG. Metabolic syndrome, diabetes and atherosclerosis: influence of gene-environment interaction. Mutat. Res. 667(1-2), 35-43 (2009).
10. Hamsten A, Eriksson P. Identifying the susceptibility genes for coronary artery disease: from hyperbole through doubt to cautious optimism. J. Intern. Med. 263(5), 538-552 (2008).
11. Anderson JL, Carlquist JF, Horne BD, Hopkins PN. Progress in unraveling the genetics of coronary artery disease and myocardial infarction. Curr. Atheroscler. Rep. 9(3), 179-186 (2007).
12. Little MP, Tawn EJ, Tzoulaki I et al.. A systematic review of epidemiological associations between low and moderate doses of ionizing radiation and late cardiovascular effects, and their possible mechanisms. Radiat. Res. 169(1), 99-109 (2008).
13. Little MP, Tawn EJ, Tzoulaki I et al.. Review and meta-analysis of epidemiological associations between low/ moderate doses of ionizing radiation and circulatory disease risks, and their possible mechanisms. Radiat. Environ. Biophys. (2009) DOI: 10.1007/s00411- 009-0250-z (Epub ahead of print).
14. Binkova B, Strejc P, Boubelik O et al.. DNA adducts and human atherosclerotic lesions. Int. J. Hyg. Environ. Health 204(1), 49-54 (2001).
15. Izzotti A, Piana A, Minniti G et al.. Survival of atherosclerotic patients as related to oxidative stress and gene polymorphisms. Mutat. Res. 621(1-2), 119-128 (2007).
16. Cakir Y, Yang Z, Knight CA et al.. Effect of alcohol and tobacco smoke on mtDNA damage and atherogenesis. Free Radic. Biol. Med. 43(9), 1279-1288 (2007).
17. Aliev G, Gasimov E, Obrenovich ME et al.. Atherosclerotic lesions and mitochondria DNA deletions in brain microvessels: implication in the pathogenesis of Alzheimer's disease. Vasc. Health Risk Manag. 4(3), 721-730 (2008).
18. Aliev G, Seyidova D, Lamb BT et al.. Mitochondria and vascular lesions as a central target for the development of Alzheimer's disease and Alzheimer disease-like pathology in transgenic mice. Neurol. Res. 25(6), 665-674 (2003).
19. Aliev G, Seyidova D, Neal ML et al.. Atherosclerotic lesions and mitochondria DNA deletions in brain microvessels as a central target for the development of human AD and AD-like pathology in aged transgenic mice. Ann. NY Acad. Sci. 977, 45-64 (2002).
20. Schwartz SM, Murry CE. Proliferation and the monoclonal origins of atherosclerotic lesions. Annu. Rev. Med. 49, 437-460 (1998).
21. Chung IM, Schwartz SM, Murry CE. Clonal architecture of normal and atherosclerotic aorta: implications for atherogenesis and vascular development. Am. J. Pathol. 152(4), 913-923 (1998).
22. Penn A, Garte SJ, Warren L, Nesta D, Mindich B. Transforming gene in human atherosclerotic plaque DNA. Proc. Natl Acad. Sci. USA 83(20), 7951-7955 (1986).
23. Parkes JL, Cardell RR, Hubbard FC Jr et al.. Cultured human atherosclerotic plaque smooth muscle cells retain transforming potential and display enhanced expression of the myc protooncogene. Am. J. Pathol. 138(3), 765-775 (1991).
24. Napoli C, Lerman LO, De Nigris F, Sica V. c-Myc oncoprotein: a dual pathogenic role in neoplasia and cardiovascular diseases? Neoplasia 4(3), 185-190 (2002).
25. Matturri L, Cazzullo A, Turconi P et al.. Chromosomal alterations in atherosclerotic plaques. Atherosclerosis 154(3), 755-761 (2001).
26. Mulvihill ER, Jaeger J, Sengupta R et al.. Atherosclerotic plaque smooth muscle cells have a distinct phenotype. Arterioscler. Thromb. Vasc. Biol. 24(7), 1283-1289 (2004).
27. Hazen SL, Heinecke JW. 3-chlorotyrosine, a specific marker of myeloperoxidase-catalyzed oxidation, is markedly elevated in low density lipoprotein isolated from human atherosclerotic intima. J. Clin. Invest. 99(9), 2075-2081 (1997).
28. Takeshita J, Byun J, Nhan TQ et al.. Myeloperoxidase generates 5-chlorouracil in human atherosclerotic tissue: a potential pathway for somatic mutagenesis by macrophages. J. Biol. Chem. 281(6), 3096-3104 (2006).
29. David SS, O'Shea VL, Kundu S. Base-excision repair of oxidative DNA damage. Nature 447(7147), 941-950 (2007).
30. Martinet W, Knaapen MW, De Meyer GR, Herman AG, Kockx MM. Elevated levels of oxidative DNA damage and DNA repair enzymes in human atherosclerotic plaques. Circulation 106(8), 927-932 (2002).
31. Botto N, Masetti S, Petrozzi L et al.. Elevated levels of oxidative DNA damage in patients with coronary artery disease. Coron. Artery Dis. 13(5), 269-274 (2002).
32. Feng Z, Hu W, Tang MS. Trans-4- hydroxy-2-nonenal inhibits nucleotide excision repair in human cells: a possible mechanism for lipid peroxidation-induced carcinogenesis. Proc. Natl Acad. Sci. USA 101(23), 8598-8602 (2004).
33. Bartsch H, Nair J. Oxidative stress and lipid peroxidation-derived DNA-lesions in inflammation driven carcinogenesis. Cancer Detect. Prev. 28(6), 385-391 (2004).
34. Nair J, De Flora S, Izzotti A, Bartsch H. Lipid peroxidation-derived etheno-DNA adducts in human atherosclerotic lesions. Mutat. Res. 621(1-2), 95-105 (2007).
35. Binkova B, Smerhovsky Z, Strejc P et al.. DNA-adducts and atherosclerosis: a study of accidental and sudden death males in the Czech Republic. Mutat. Res. 501(1-2), 115-128 (2002).
36. Godschalk R, Curfs D, Bartsch H, Van Schooten FJ, Nair J. Benzo[a]pyrene enhances lipid peroxidation induced DNA damage in aorta of apolipoprotein E knockout mice. Free Radic. Res. 37(12), 1299-1305 (2003).
37. Curfs DM, Lutgens E, Gijbels MJ et al.. Chronic exposure to the carcinogenic compound benzo[a]pyrene induces larger and phenotypically different atherosclerotic plaques in ApoE-knockout mice. Am. J. Pathol. 164(1), 101-108 (2004).
38. Godschalk RW, Albrecht C, Curfs DM et al.. Decreased levels of lipid peroxidation-induced DNA damage in the onset of atherogenesis in apolipoprotein E deficient mice. Mutat. Res. 621(1-2), 87-94 (2007).
39. Curfs DM, Knaapen AM, Pachen DM et al.. Polycyclic aromatic hydrocarbons induce an inflammatory atherosclerotic plaque phenotype irrespective of their DNA binding properties. FASEB J. 19(10), 1290-1292 (2005).
40. Iarmarcovai G, Bonassi S, Botta A, Baan RA, Orsiere T. Genetic polymorphisms and micronucleus formation: a review of the literature. Mutat. Res. 658(3), 215-233 (2008).
41. Botto N, Rizza A, Colombo MG et al.. Evidence for DNA damage in patients with coronary artery disease. Mutat. Res. 493(1-2), 23-30 (2001).
42. Federici C, Botto N, Manfredi S et al.. Relation of increased chromosomal damage to future adverse cardiac events in patients with known coronary artery disease. Am. J. Cardiol. 102(10), 1296-1300 (2008).
43. Hatzistamou J, Kiaris H, Ergazaki M, Spandidos DA. Loss of heterozygosity and microsatellite instability in human atherosclerotic plaques. Biochem. Biophys. Res. Commun. 225(1), 186-190 (1996).
44. Spandidos DA, Ergazaki M, Arvanitis D, Kiaris H. Microsatellite instability in human atherosclerotic plaques. Biochem. Biophys. Res. Commun. 220(1), 137-140 (1996).
45. Laghi L, Bianchi P, Malesci A. Differences and evolution of the methods for the assessment of microsatellite instability. Oncogene 27(49), 6313-6321 (2008).
46. de la Chapelle A. Microsatellite instability. N. Engl. J. Med. 349(3), 209-210 (2003).
47. Lutgens E, Gijbels M, Smook M et al.. Transforming growth factor-b mediates balance between inflammation and fibrosis during plaque progression. Arterioscler. Thromb. Vasc. Biol. 22(6), 975-982 (2002).
48. McCaffrey TA, Du B, Consigli S et al.. Genomic instability in the type II TGF-b1 receptor gene in atherosclerotic and restenotic vascular cells. J. Clin. Invest. 100(9), 2182-2188 (1997).
49. Clark KJ, Cary NR, Grace AA, Metcalfe JC. Microsatellite mutation of type II transforming growth factor-b receptor is rare in atherosclerotic plaques. Arterioscler. Thromb. Vasc. Biol. 21(4), 555-559 (2001).
50. Singh NN, Ramji DP. The role of transforming growth factor-b in atherosclerosis. Cytokine Growth Factor Rev. 17(6), 487-499 (2006).
51. Gojova A, Brun V, Esposito B et al.. Specific abrogation of transforming growth factor-b signaling in T cells alters atherosclerotic lesion size and composition in mice. Blood 102(12), 4052-4058 (2003).
52. Arvanitis DA, Flouris GA, Spandidos DA. Genomic rearrangements on VCAM1, SELE, APEG1 and AIF1 loci in atherosclerosis. J. Cell. Mol. Med. 9(1), 153-159 (2005).
53. Mishima T, Iwabuchi K, Fujii S et al.. Allograft inflammatory factor-1 augments macrophage phagocytotic activity and accelerates the progression of atherosclerosis in ApoE-/- mice. Int. J. Mol. Med. 21(2), 181-187 (2008).
54. Taylor RW, Turnbull DM. Mitochondrial DNA mutations in human disease. Nat. Rev. Genet. 6(5), 389-402 (2005).
55. Lu J, Sharma LK, Bai Y. Implications of mitochondrial DNA mutations and mitochondrial dysfunction in tumorigenesis. Cell Res. 19(7), 802-815 (2009).
56. Krishnan KJ, Reeve AK, Samuels DC et al.. What causes mitochondrial DNA deletions in human cells? Nat. Genet. 40(3), 275-279 (2008).
57. Madamanchi NR, Runge MS. Mitochondrial dysfunction in atherosclerosis. Circ. Res. 100(4), 460-473 (2007).
58. Edgar D, Shabalina I, Camara Y et al.. Random point mutations with major effects on protein-coding genes are the driving force behind premature aging in mtDNA mutator mice. Cell Metab. 10(2), 131-138 (2009).
59. Trifunovic A, Hansson A, Wredenberg A et al.. Somatic mtDNA mutations cause aging phenotypes without affecting reactive oxygen species production. Proc. Natl Acad. Sci. USA 102(50), 17993-17998 (2005).
60. Trifunovic A, Wredenberg A, Falkenberg M et al.. Premature ageing in mice expressing defective mitochondrial DNA polymerase. Nature 429(6990), 417-423 (2004).
61. Bogliolo M, Izzotti A, De Flora S et al.. Detection of the '4977 bp' mitochondrial DNA deletion in human atherosclerotic lesions. Mutagenesis 14(1), 77-82 (1999).
62. Botto N, Berti S, Manfredi S et al.. Detection of mtDNA with 4977 bp deletion in blood cells and atherosclerotic lesions of patients with coronary artery disease. Mutat. Res. 570(1), 81-88 (2005).
63. Sazonova M, Budnikov E, Khasanova Z et al.. Studies of the human aortic intima by a direct quantitative assay of mutant alleles in the mitochondrial genome. Atherosclerosis 204(1), 184-190 (2009).
64. Nomiyama T, Tanaka Y, Hattori N et al.. Accumulation of somatic mutation in mitochondrial DNA extracted from peripheral blood cells in diabetic patients. Diabetologia 45(11), 1577-1583 (2002).
65. Nomiyama T, Tanaka Y, Piao L et al.. Accumulation of somatic mutation in mitochondrial DNA and atherosclerosis in diabetic patients. Ann. NY Acad. Sci. 1011, 193-204 (2004).
66. Minamino T, Komuro I. Vascular aging: insights from studies on cellular senescence, stem cell aging, and progeroid syndromes. Nat. Clin. Pract. Cardiovasc. Med. 5(10), 637-648 (2008).
67. Gorgoulis VG, Pratsinis H, Zacharatos P et al.. p53-dependent ICAM-1 overexpression in senescent human cells identified in atherosclerotic lesions. Lab. Invest. 85(4), 502-511 (2005).
68. Costopoulos C, Liew TV, Bennett M. Ageing and atherosclerosis: mechanisms and therapeutic options. Biochem. Pharmacol. 75(6), 1251-1261 (2008).
69. Hezel AF, Bardeesy N, Maser RS. Telomere induced senescence: end game signaling. Curr. Mol. Med. 5(2), 145-152 (2005).
70. Campisi J, D'Adda di Fagagna F. Cellular senescence: when bad things happen to good cells. Nat. Rev. Mol. Cell. Biol. 8(9), 729-740 (2007).
71. Matthews C, Gorenne I, Scott S et al.. Vascular smooth muscle cells undergo telomere-based senescence in human atherosclerosis: effects of telomerase and oxidative stress. Circ. Res. 99(2), 156-164 (2006).
72. Andreassi MG. DNA damage, vascular senescence and atherosclerosis. J. Mol. Med. 86(9), 1033-1043 (2008).
73. Aliyev A, Chen SG, Seyidova D et al.. Mitochondria DNA deletions in atherosclerotic hypoperfused brain microvessels as a primary target for the development of Alzheimer's disease. J. Neurol. Sci. 229-230, 285-292 (2005).
74. McMurtry MS, Archer SL, Altieri DC et al.. Gene therapy targeting survivin selectively induces pulmonary vascular apoptosis and reverses pulmonary arterial hypertension. J. Clin. Invest. 115(6), 1479-1491 (2005).
75. Tuder RM, Cool CD, Yeager M et al.. The pathobiology of pulmonary hypertension. Endothelium. Clin. Chest. Med. 22(3), 405-418 (2001).
76. Zaiman A, Fijalkowska I, Hassoun PM, Tuder RM. One hundred years of research in the pathogenesis of pulmonary hypertension. Am. J. Respir. Cell. Mol. Biol. 33(5), 425-431 (2005).
77. Simonneau G, Robbins IM, Beghetti M et al.. Updated clinical classification of pulmonary hypertension. J. Am. Coll. Cardiol. 54(1 Suppl.), S43-S54 (2009).
78. Rai PR, Cool CD, King JA et al.. The cancer paradigm of severe pulmonary arterial hypertension. Am. J. Respir. Crit. Care. Med. 178(6), 558-564 (2008).
79. Masri FA, Xu W, Comhair SA et al.. Hyperproliferative apoptosis-resistant endothelial cells in idiopathic pulmonary arterial hypertension. Am. J. Physiol. Lung Cell. Mol. Physiol. 293(3), L548-L554 (2007).
80. Lee SD, Shroyer KR, Markham NE et al.. Monoclonal endothelial cell proliferation is present in primary but not secondary pulmonary hypertension. J. Clin. Invest. 101(5), 927-934 (1998).
81. Tuder RM, Radisavljevic Z, Shroyer KR, Polak JM, Voelkel NF. Monoclonal endothelial cells in appetite suppressant-associated pulmonary hypertension. Am. J. Respir. Crit. Care. Med. 158(6), 1999-2001 (1998).
82. Yeager ME, Halley GR, Golpon HA, Voelkel NF, Tuder RM. Microsatellite instability of endothelial cell growth and apoptosis genes within plexiform lesions in primary pulmonary hypertension. Circ. Res. 88(1), E2-E11 (2001).
83. Machado RD, James V, Southwood M et al.. Investigation of second genetic hits at the BMPR2 locus as a modulator of disease progression in familial pulmonary arterial hypertension. Circulation 111(5), 607-613 (2005).
84. Machado RD, Aldred MA, James V et al.. Mutations of the TGF-b type II receptor BMPR2 in pulmonary arterial hypertension. Hum. Mutat. 27(2), 121-132 (2006).
85. Limaye N, Wouters V, Uebelhoer M et al.. Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations. Nat. Genet. 41(1), 118-124 (2009).
86. Atkinson C, Stewart S, Upton PD et al.. Primary pulmonary hypertension is associated with reduced pulmonary vascular expression of type II bone morphogenetic protein receptor. Circulation 105(14), 1672-1678 (2002).
87. Richter A, Yeager ME, Zaiman A et al.. Impaired transforming growth factor-b signaling in idiopathic pulmonary arterial hypertension. Am. J. Respir. Crit. Care Med. 170(12), 1340-1348 (2004).
88. Hong KH, Lee YJ, Lee E et al.. Genetic ablation of the BMPR2 gene in pulmonary endothelium is sufficient to predispose to pulmonary arterial hypertension. Circulation 118(7), 722-730 (2008).
89. Yuan JX, Rubin LJ. Pathogenesis of pulmonary arterial hypertension: the need for multiple hits. Circulation 111(5), 534-538 (2005).
90. Wamhoff BR, Hoofnagle MH, Burns A et al.. A G/C element mediates repression of the SM22a promoter within phenotypically modulated smooth muscle cells in experimental atherosclerosis. Circ. Res. 95(10), 981-988 (2004).
91. Roberts R. A customized genetic approach to the number one killer: coronary artery disease. Curr. Opin. Cardiol. 23(6), 629-633 (2008).
92. Dandona S, Roberts R. Creating a genetic risk score for coronary artery disease. Curr. Atheroscler. Rep. 11(3), 175-181 (2009).
93. Jarinova O, Stewart AF, Roberts R et al.. Functional analysis of the chromosome 9p21.3 coronary artery disease risk locus. Arterioscler. Thromb. Vasc. Biol. 29(10), 1671-1677 (2009).
94. Dandona S, Roberts R. Genomic view of factors leading to plaque instability. Curr. Cardiol. Rep. 11(4), 282-287 (2009).
95. Soranzo N, Spector TD, Mangino M et al.. A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nat. Genet. 41(11), 1182-1190 (2009).
96. Daw EW, Chen SN, Czernuszewicz G et al.. Genome-wide mapping of modifier chromosomal loci for human hypertrophic cardiomyopathy. Hum. Mol. Genet. 16(20), 2463-2471 (2007).
97. Brunicardi FC, Gibbs RA, Fisher W, Chen C. Overview of the Molecular Surgeon Symposium on Personalized Genomic Medicine and Surgery. World J. Surg. 33(4), 612-614 (2009).