Information de reference pour ce titreAccession Number: | 00000620-200610850-00027.
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Author: | PANNU, HARIYADARSHI; AVIDAN, NILI; TRAN-FADULU, VAN; MILEWICZ, DIANNA M.
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Institution: | Department of Internal Medicine and Institute of Molecular Medicine, The University of Texas Health Science Center, Houston, Texas, USA
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Title: | |
Source: | Annals of the New York Academy of Sciences. 1085(1):242-255, November 2006.
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Abstract: | Ascending thoracic aortic aneurysms leading to type A dissections (TAAD) have long been known to occur in association with a genetic syndrome such as Marfan syndrome (MFS). More recently, TAAD has also been demonstrated to occur as an autosomal dominant disorder in the absence of syndromic features, termed familial TAAD. Familial TAAD demonstrates genetic heterogeneity, and linkage studies have identified TAAD loci at 5q13-14 (TAAD1), 11q23 (FAA1), 3p24-25 (TAAD2), and 16p12.2-13.13. The genetic heterogeneity of TAAD is reflected by variation in disease in terms of the age of onset, progression, penetrance, and association with additional cardiac and vascular features. The underlying genetic heterogeneity of TAAD is reflected in the phenotypic variation associated with familial TAAD with respect to age of onset, progression, penetrance, and association with additional cardiac and vascular features. Mutations in the TGFBR2 gene have been identified as the cause of disease linked to the 3p24-25 locus, implicating dysregulation of TGF-[beta] signaling in TAAD. Mutations in myosin heavy chain (MYH11), a smooth muscle cell-specific contractile protein, have been identified in familial TAAD associated with patent ductus arteriosus (PDA) linked to 16p12.2-12.13. The identification of these novel disease pathways has led to new directions for future research addressing the pathology and treatment of TAAD.
Copyright 2006 by the New York Academy of Sciences. All rights reserved.
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Author Keywords: | aneurysms; dissections; aorta; aortic disease; transforming growth factor-[beta]; TGFBR1; TGFBR2; FBN1; MYH11.
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References: | 1. LILIENFELD, D.E., P.D. GUNDERSON, J.M. SPRAFKA & C. VARGAS. 1987. Epidemiology of aortic aneurysms: I. Mortality trends in the United States, 1951 to 1981. Arteriosclerosis 7: 637-643.
2. LINDSAY, J., JR. 1997. Diagnosis and treatment of diseases of the aorta. Curr. Probl. Cardiol. 22: 485-542.
3. PLEUMEEKERS, H.J., A.W. HOES, D.E. VAN DER, et al. 1995. Aneurysms of the abdominal aorta in older adults. The Rotterdam Study. Am. J. Epidemiol. 142: 1291-1299.
4. THOMPSON, R.W., D.R. HOLMES, R.A. MERTENS, et al. 1995. Production and localization of 92-kilodalton gelatinase in abdominal aortic aneurysms. An elastolytic metalloproteinase expressed by aneurysm-infiltrating macrophages. J. Clin. Invest. 96: 318-326.
5. PYO, R., J.K. LEE, J.M. SHIPLEY, et al. 2000. Targeted gene disruption of matrix metalloproteinase-9 (gelatinase B) suppresses development of experimental abdominal aortic aneurysms. J. Clin. Invest. 105: 1641-1649.
6. BICKERSTAFF, L.K., P.C. PAIROLERO, L.H. HOLLIER, et al. 1982. Thoracic aortic aneurysms: a population-based study. Surgery 92: 1103-1108.
7. ERDHEIM, J. 1930. Medionecrosis aortae idiopathica cystica. Virchows Arch. Path. Anat. 276: 187-229.
8. TILSON, M.D. & M.R. SEASHORE. 1984. Fifty families with abdominal aortic aneurysms in two or more first-order relatives. Am. J. Surg. 147: 551-553.
9. WEBSTER, M.W., P.L. ST. JEAN, D.L. STEED, et al. 1991. Abdominal aortic aneurysm: results of a family study. J. Vasc. Surg. 13: 366-372.
10. COLLIN, J. 1996. The oxford screening program for aortic aneurysm and screening first-order male siblings of probands with abdominal aortic aneurysm. Ann. N. Y. Acad. Sci. 800: 36-43.
11. VERLOES, A., N. SAKALIHASAN, R. LIMET & L. KOULISCHER. 1996. Genetic aspects of abdominal aortic aneurysm. Ann. N. Y. Acad. Sci. 800: 44-55.
12. NORRGARD, O., O. RAIS & K.A. ANGQUIST. 1984. Familial occurrence of abdominal aortic aneurysms. Surgery 95: 650-656.
13. MAJUMDER, P.P., P.L. ST. JEAN, R.E. FERRELL, et al. 1991. On the inheritance of abdominal aortic aneurysm. Am. J. Hum. Genet. 48: 164-170.
14. SHIBAMURA, H., J.M. OLSON, C. VAN VLIJMEN-VAN KEULEN, et al. 2004. Genome scan for familial abdominal aortic aneurysm using sex and family history as covariates suggests genetic heterogeneity and identifies linkage to chromosome 19q13. Circulation 109: 2103-2108.
15. FINKBOHNER, R., D. JOHNSTON, E.S. CRAWFORD, et al. 1995. Marfan syndrome. Long-term survival and complications after aortic aneurysm repair. Circulation 91: 728-733.
16. SILVERMAN, D.I., K.J. BURTON, J. GRAY, et al. 1995. Life expectancy in the Marfan syndrome. Am. J. Cardiol. 75: 157-160.
17. VAN KARNEBEEK, C.D., M.S. NAEFF, B.J. MULDER, et al. 2001. Natural history of cardiovascular manifestations in Marfan syndrome. Arch. Dis. Child 84: 129-137.
18. LEE, B., M. GODFREY, E. VITALE, et al. 1991. Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature 352: 330-334.
19. CORSON, G.M., S.C. CHALBERG, H.C. DIETZ, et al. 1993. Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5' end. Genomics 17: 476-484.
20. PEREIRA, L., M. D'ALESSIO, F. RAMIREZ, et al. 1993. Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome. Hum. Mol. Genet. 2: 961-968.
21. MILEWICZ, D.M., J. GROSSFIELD, S.N. CAO, et al. 1995. A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome. J. Clin. Invest. 95: 2373-2378.
22. MILEWICZ, D.M., K. MICHAEL, N. FISHER, et al. 1996. Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms. Circulation 94: 2708-2711.
23. FRANCKE, U., M.A. BERG, K. TYNAN, et al. 1995. A Gly1127Ser mutation in An Egf-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. Am. J. Hum. Genet. 56: 1287-1296.
24. ADES, L.C., D. SREETHARAN, E. ONIKUL, et al. 2002. Segregation of a novel FBN1 gene mutation, G1796E, with kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations. Am. J. Med. Genet 109: 261-270.
25. FAIVRE, L., R.J. GORLIN, M.K. WIRTZ, et al. 2003. In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med. Genet. 40: 34-36.
26. KATZKE, S., P. BOOMS, F. TIECKE, et al. 2002. TGGE screening of the entire FBN1 coding sequence in 126 individuals with Marfan syndrome and related fibrillinopathies. Hum. Mutat. 20: 197-208.
27. HOLLISTER, D.W., M. GODFREY, L.Y. SAKAI & R.E. PYERITZ. 1990. Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome. N. Engl. J. Med. 323: 152-159.
28. MILEWICZ, D.M., R.E. PYERITZ, E.S. CRAWFORD & P.H. BYERS. 1992. Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts. J. Clin. Invest. 89: 79-86.
29. AOYAMA, T., U. FRANCKE, H.C. DIETZ & H. FURTHMAYR. 1994. Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms. J. Clin. Invest. 94: 130-137.
30. NEPTUNE, E.R., P.A. FRISCHMEYER, D.E. ARKING, et al. 2003. Dysregulation of TGFbeta activation contributes to pathogenesis in Marfan syndrome. Nat. Genet. 33: 407-411.
31. NG, C.M., A. CHENG, L.A. MYERS, et al. 2004. TGF beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome. J. Clin. Invest. 114: 1586-1592.
32. HABASHI, J.P., D.P. JUDGE, T.M. HOLM, et al. 2006. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 312: 117-121.
33. COLLOD, G., M.C. BABRON, G. JONDEAU, et al. 1994. A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. Nat. Genet. 8: 264-268.
34. BOILEAU, C., G. JONDEAU, M.C. BABRON, et al. 1993. Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes. Am. J. Hum. Genet. 53: 46-54.
35. DIETZ, H., U. FRANCKE, H. FURTHMAYR, et al. 1995. The question of heterogeneity in Marfan syndrome. Nat. Genet. 9: 228-231.
36. MIZUGUCHI, T., G. COLLOD-BEROUD, T. AKIYAMA, et al. 2004. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat. Genet. 36: 855-860.
37. LOEYS, B.L., J. CHEN, E.R. NEPTUNE, et al. 2005. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat. Genet. 37: 275-281.
38. DENTON, C.P., B. ZHENG, L.A. EVANS, et al. 2003. Fibroblast-specific expression of a kinase-deficient type II transforming growth factor beta (TGFbeta) receptor leads to paradoxical activation of TGFbeta signaling pathways with fibrosis in transgenic mice. J. Biol. Chem. 278: 25109-25119.
39. DENTON, C.P., G.E. LINDAHL, K. KHAN, et al. 2005. Activation of 78II transforming growth factor-{beta} receptor (T{beta}RII{Delta}k). J. Biol. Chem. 280: 16053-16065.
40. NICOD, P., C. BLOOR, M. GODFREY, et al. 1989. Familial aortic dissecting aneurysm. J. Am. Coll. Cardiol. 13: 811-819.
41. BIDDINGER, A., M. ROCKLIN, J. COSELLI & D.M. MILEWICZ. 1997. Familial thoracic aortic dilatations and dissections: a case control study. J. Vasc. Surg. 25: 506-511.
42. COADY, M.A., R.R. DAVIES, M. ROBERTS, et al. 1999. Familial patterns of thoracic aortic aneurysms. Arch. Surg. 134: 361-367.
43. MILEWICZ, D.M., H. CHEN, E.S. PARK, et al. 1998. Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections. Am. J. Cardiol. 82: 474-479.
44. HASHAM, S.N., M.C. WILLING, D.C. GUO, et al. 2003. Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. Circulation 107: 3184-3190.
45. GUO, D., S. HASHAM, S.Q. KUANG, et al. 2001. Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14. Circulation 103: 2461-2468.
46. KAKKO, S., T. RAISANEN, M. TAMMINEN, et al. 2003. Candidate locus analysis of familial ascending aortic aneurysms and dissections confirms the linkage to the chromosome 5q13-14 in Finnish families. J. Thorac. Cardiovasc. Surg. 126: 106-113.
47. VAUGHAN, C.J., M. CASEY, J. HE, et al. 2001. Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder. Circulation 103: 2469-2475.
48. PANNU, H., V. FADULU, J. CHANG, et al. 2005. Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. Circulation 112: 513-520.
49. KIM, S.J., Y.H. IM, S.D. MARKOWITZ & Y.J. BANG. 2000. Molecular mechanisms of inactivation of TGFbeta receptors during carcinogenesis. Cytokine Growth Factor Rev. 11: 159-168.
50. VAN KIEN, P.K., J.E. WOLF, F. MATHIEU, et al. 2004. Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity. Eur. J. Hum. Genet. 12: 173-180.
51. GLANCY, D.L., M. WEGMANN & R.W. DHURANDHAR. 2001. Aortic dissection and patent ductus arteriosus in three generations. Am. J. Cardiol. 87: 813-815, A9.
52. ZHU, L., R. VRANCKX, P.K. VAN KIEN, et al. 2006. Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. Nat. Genet. 38: 343-349.
53. AHMAD, F., J.G. SEIDMAN & C.E. SEIDMAN. 2005. The genetic basis for cardiac remodeling. Annu. Rev. Genomics Hum. Genet. 6: 185-216.
54. TRAN-FADULU, V.T., J. CHEN, D. LEMUTH, et al. 2006. Syndrome of ascending and descending aortic dissections due to novel locus: variable expression in momozygotic twins and evidence for de novo mutations. Am. J. Med. Genet. 140: 1196-1202.
55. AVIDAN, N., V. TRAN-FADULU, J. CHEN, et al. 2006. A novel locus for familial thoracic aortic aneurysms and dissection mapped to 15q24-26 (TAAD3): locus specific phenotypes for familial aortic disease. Submitted.
56. MCKUSICK, V.A. 1972. Association of congenital bicuspid aortic valve and Erdheim's cystic medial necrosis. Lancet 1: 1026-1027.
57. MCKUSICK, V.A., R.B. LOGUE & H.T. BAHSON. 1957. Association of aortic valvular disease and cystic medial necrosis of the ascending aorta. Circulation 16: 188-194.
58. LINDSAY, J., JR. 1988. Coarctation of the aorta, bicuspid aortic valve and abnormal ascending aortic wall. Am. J. Cardiol. 61: 182-184.
59. SCHIEVINK, W.I. & B. MOKRI. 1995. Familial aorto-cervicocephalic arterial dissections and congenitally bicuspid aortic valve. Stroke 26: 1935-1940.
60. KIM, D.H., G. VAN GINHOVEN & D.M. MILEWICZ. 2005. Familial aggregation of both aortic and cerebral aneurysms: evidence for a common genetic basis in a subset of families. Neurosurgery 56: 655-661.
61. HAHN, R.T., M.J. ROMAN, A.H. MOGTADER & R.B. DEVEREUX. 1992. Association of aortic dilation with regurgitant, stenotic and functionally normal bicuspid aortic valves. J. Am. Coll. Cardiol. 19: 283-288.
62. GLICK, B.N. & W.C. ROBERTS. 1994. Congenitally bicuspid aortic valve in multiple family members. Am. J. Cardiol. 73: 400-404.
63. CLEMENTI, M., L. NOTARI, A. BORGHI & R. TENCONI. 1996. Familial congenital bicuspid aortic valve: a disorder of uncertain inheritance. Am. J. Med. Genet. 62: 336-338.
64. HUNTINGTON, K., A.G. HUNTER & K.L. CHAN. 1997. A prospective study to assess the frequency of familial clustering of congenital bicuspid aortic valve. J. Am. Coll. Cardiol. 30: 1809-1812.
65. ROSENQUIST, T.H. & A.C. BEALL. 1990. Elastogenic cells in the developing cardiovascular system. Smooth muscle, nonmuscle, and cardiac neural crest. Ann. N. Y. Acad. Sci. 588: 106-119.
66. ADES, L.C., K. SULLIVAN, A. BIGGIN, et al. 2006. FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. Am. J. Med. Genet. 140A: 1047-1058.
67. KI, C.S., D.K. JIN, S.H. CHANG, et al. 2005. Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome. Clin. Genet. 68: 561-563.
68. DISABELLA, E., M. GRASSO, N. MARZILIANO, et al. 2006. Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects Eur. J. Hum. Genet. 14: 34-38.
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Language: | English.
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Document Type: | Part V. Genetics and Immunology in AAA.
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Journal Subset: | Clinical Medicine. Behavioral & Social Sciences. Life Sciences. Physical Science & Engineering.
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ISSN: | 0077-8923
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NLM Journal Code: | 5nm, 7506858
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