The fibrillin-1 gene: Unlocking new therapeutic pathways in cardiovascular disease

Heart

Volumn 99, Issue 2, 2013, Pages 83-90

  Barrett, PaddyM ^a   Topol, Eric J ^a,b  

^a SCRIPPS TRANSLATIONAL SCIENCE INSTITUTE   (United States)

^b SCRIPPS HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANGIOTENSIN RECEPTOR ANTAGONIST; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; FIBRILLIN 1; LOSARTAN; PERINDOPRIL; TRANSFORMING GROWTH FACTOR BETA; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2;

AORTA DISEASE; AORTA DISSECTION; BICUSPID AORTIC VALVE; CARDIOVASCULAR DISEASE; DISEASE ASSOCIATION; DRUG EFFICACY; DRUG MECHANISM; FBN 1 GENE; GENE MUTATION; GENETIC RISK; HERITABILITY; HUMAN; MARFAN SYNDROME; MITRAL VALVE PROLAPSE; NONHUMAN; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; SPORADIC THORACIC AORTA ANEURYSM AND DISSECTION; THORACIC AORTA; THORACIC AORTA ANEURYSM;

CARDIOVASCULAR DISEASES; DISEASE MANAGEMENT; DNA; EXTRACELLULAR MATRIX PROTEINS; HUMANS; MICROFILAMENT PROTEINS; MUTATION; PHENOTYPE;

EID: 84871728284     PISSN: 13556037     EISSN: 1468201X     Source Type: Journal    
DOI: 10.1136/heartjnl-2012-301840     Document Type: Review

References (99)

1. Detaint D, Faivre L, Collod-Beroud G, et al. Cardiovascular manifestations in men and women carrying a FBN1 mutation. Eur Heart J 2010;31:2223-9.
2. Milewicz DM, Michael K, Fisher N, et al. Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms. Circulation 1996;94:2708-11. (Pubitemid 26411732)
3. Rybczynski M, Mir TS, Sheikhzadeh S, et al. Frequency and age-related course of mitral valve dysfunction in the Marfan syndrome. Am J Cardiol 2010;106:1048-53.
4. Faivre L, Collod-Beroud G, Loeys BL, et al. Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am J Hum Genet 2007;81:454-66. (Pubitemid 47330205)
5. Fedak PW, de Sa MP, Verma S, et al. Vascular matrix remodeling in patients with bicuspid aortic valve malformations: implications for aortic dilatation. J Thorac Cardiovasc Surg 2003;126:797-806. (Pubitemid 37151966)
6. Lemaire SA, McDonald ML, Guo DC, et al. Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. Nat Genet 2011;43:996-1000.
7. Brautbar A, LeMaire SA, Franco LM, et al. FBN1 mutations in patients with descending thoracic aortic dissections. Am J Med Genet A 2010;152A:413-16.
8. Lonnqvist L, Child A, Kainulainen K, et al. A novel mutation of the fibrillin gene causing ectopia lentis. Genomics 1994;19:573-6. (Pubitemid 24071335)
9. Hayward C, Porteous ME, Brock DJ. A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly. Mol Cell Probes 1994;8:325-7. (Pubitemid 24324605)
10. Milewicz DM, Grossfield J, Cao SN, et al. A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome. J Clin Invest 1995;95:2373-8.
11. Faivre L, Gorlin RJ, Wirtz MK, et al. In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet 2003;40:34-6. (Pubitemid 36115122)
12. Biery NJ, Eldadah ZA, Moore CS, et al. Revised genomic organization of FBN1 and significance for regulated gene expression. Genomics 1999;56:70-7. (Pubitemid 29107205)
13. Corson GM, Chalberg SC, Dietz HC, et al. Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5′ end. Genomics 1993;17:476-84. (Pubitemid 23231308)
14. Pereira L, D'Alessio M, Ramirez F, et al. Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome. Hum Mol Genet 1993;2:961-8. (Pubitemid 23216628)
15. McGettrick AJ, Knott V, Willis A, et al. Molecular effects of calcium binding mutations in Marfan syndrome depend on domain context. Hum Mol Genet 2000;9:1987-94. (Pubitemid 30642663)
16. Smallridge RS, Whiteman P, Werner JM, et al. Solution structure and dynamics of a calcium binding epidermal growth factor-like domain pair from the neonatal region of human fibrillin-1. J Biol Chem 2003;278:12199-206. (Pubitemid 36800200)
17. Milewicz DM, Guo DC, Tran-Fadulu V, et al. Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction. Annu Rev Genomics Hum Genet 2008;9:283-302.
18. Pereira L, Andrikopoulos K, Tian J, et al . Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome. Nat Genet 1997;17:218-22.
19. Adeola T, Adeleye O, Potts JL, et al. Thoracic aortic dissection in a patient with autosomal dominant polycystic kidney disease. J Natl Med Assoc 2001;93:282-7. (Pubitemid 33613253)
20. Elsheikh M, Dunger DB, Conway GS, et al. Turner's syndrome in adulthood. Endocr Rev 2002;23:120-40. (Pubitemid 34185308)
21. Kamath BM, Spinner NB, Emerick KM, et al. Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality. Circulation 2004;109:1354-8. (Pubitemid 38387820)
22. Lee CC, Chang WT, Fang CC, et al. Sudden death caused by dissecting thoracic aortic aneurysm in a patient with autosomal dominant polycystic kidney disease. Resuscitation 2004;63:93-6.
23. Lin AE, Garver KL, Allanson J. Aortic-root dilatation in Noonan's syndrome. N Engl J Med 1987;317:1668-9. (Pubitemid 18010477)
24. Shachter N, Perloff JK, Mulder DG. Aortic dissection in Noonan's syndrome (46 XY turner). Am J Cardiol 1984;54:464-5. (Pubitemid 14055791)
25. Biddinger A, Rocklin M, Coselli J, et al. Familial thoracic aortic dilatations and dissections: a case control study. J Vasc Surg 1997;25:506-11. (Pubitemid 27136975)
26. Coady MA, Davies RR, Roberts M, et al. Familial patterns of thoracic aortic aneurysms. Arch Surg 1999;134:361-7. (Pubitemid 29282076)
27. Guo D, Hasham S, Kuang SQ, et al. Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14. Circulation 2001;103:2461-8. (Pubitemid 32493372)
28. Guo DC, Pannu H, Tran-Fadulu V, et al. Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet 2007;39:1488-93. (Pubitemid 350191352)
29. Hasham SN, Willing MC, Guo DC, et al. Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. Circulation 2003;107:3184-90. (Pubitemid 36793089)
30. Vaughan CJ, Casey M, He J, et al. Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder. Circulation 2001;103:2469-75. (Pubitemid 32493373)
31. Akhurst RJ. TGF beta signaling in health and disease. Nat Genet 2004;36:790-2. (Pubitemid 39014092)
32. Mizuguchi T, Collod-Beroud G, Akiyama T, et al. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet 2004;36:855-60. (Pubitemid 39014103)
33. Loeys BL, Chen J, Neptune ER, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 2005;37:275-81. (Pubitemid 41716254)
34. Pressler V, McNamara JJ. Aneurysm of the thoracic aorta. Review of 260 cases. J Thorac Cardiovasc Surg 1985;89:50-4. (Pubitemid 16237657)
35. Nienaber CA, Eagle KA. Aortic dissection: new frontiers in diagnosis and management: Part I: from etiology to diagnostic strategies. Circulation 2003;108:628-35. (Pubitemid 36961181)
36. Tsai TT, Nienaber CA, Eagle KA. Acute aortic syndromes. Circulation 2005;112:3802-13. (Pubitemid 43739522)
37. Debakey ME, Henly WS, Cooley DA, et al. Surgical management of dissecting aneurysms of the aorta. J Thorac Cardiovasc Surg 1965;49:130-49.
38. Daily PO, Trueblood HW, Stinson EB, et al. Management of acute aortic dissections. Ann Thorac Surg 1970;10:237-47.
39. Wang L, Guo DC, Cao J, et al. Mutations in myosin light chain kinase cause familial aortic dissections. Am J Hum Genet 2010;87:701-7.
40. Zhu L, Vranckx R, Khau Van Kien P, et al. Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. Nat Genet 2006;38:343-9.
41. Svensson LG. Aortic valve stenosis and regurgitation: an overview of management. J Cardiovasc Surg (Torino) 2008;49:297-303. (Pubitemid 351833253)
42. Svensson LG, Blackstone EH, Cosgrove DM 3rd. Surgical options in young adults with aortic valve disease. Curr Probl Cardiol 2003;28:417-80.
43. Larson EW, Edwards WD. Risk factors for aortic dissection: a necropsy study of 161 cases. Am J Cardiol 1984;53:849-55. (Pubitemid 14154705)
44. Braverman AC, Guven H, Beardslee MA, et al. The bicuspid aortic valve. Curr Probl Cardiol 2005;30:470-522.
45. Huntington K, Hunter AG, Chan KL. A prospective study to assess the frequency of familial clustering of congenital bicuspid aortic valve. J Am Coll Cardiol 1997;30:1809-12. (Pubitemid 27521266)
46. Cripe L, Andel finger G, Martin LJ, et al. Bicuspid aortic valve is heritable. J Am Coll Cardiol 2004;44:138-43.
47. Lacro RV, Dietz HC, Wruck LM, et al. Rationale and design of a randomized clinical trial of beta-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome. Am Heart J 2007;154:624-31. (Pubitemid 47429596)
48. Judge DP, Dietz HC. Marfan 's syndrome. Lancet 2005;366:1965-76.
49. Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010;47:476-85.
50. O'Donnell C. Marfan Syndrome-Aortic Root Dilatation. 2012. http://radiopaedia.org/images/1642546 (accessed Jul 2012).
51. Bahar I, Kaiserman I, Rootman D. Cionni endocapsular ring implantation in Marfan 's Syndrome. Br J Ophthalmol 2007;91:1477-80. (Pubitemid 350044050)
52. Murdoch JL, Walker BA, Halpern BL, et al. Life expectancy and causes of death in the Marfan syndrome. N Engl J Med 1972;286:804-8.
53. Hilhorst-Hofstee Y, Hamel BC, Verheij JB, et al. The clinical spectrum of complete FBN1 allele deletions. Eur J Hum Genet 2011;19:247-52.
54. Collod-Beroud G, Le Bourdelles S, Ades L, et al. Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat 2003;22:199-208. (Pubitemid 37071636)
55. Ades LC, Sullivan K, Biggin A, et al. FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. Am J Med Genet A 2006;140:1047-58.
56. Faivre L, Khau Van Kien P, Callier P, et al. De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome. Eur J Med Genet 2010;53:208-12.
57. Hiraki Y, Moriuchi M, Okamoto N, et al. Craniosynostosis in a patient with a de novo 15q15-q22 deletion. Am J Med Genet A 2008;146A:1462-5. (Pubitemid 351770212)
58. Hutchinson S, Furger A, Halliday D, et al. Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype? Hum Mol Genet 2003;12:2269-76. (Pubitemid 37160871)
59. Hayward C, Keston M, Brock DJ, et al. Fibrillin (FBN1) mutations in Marfan syndrome. Hum Mutat 1992;1:79.
60. Hayward C, Brock DJ. Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies. Hum Mutat 1997;10:415-23. (Pubitemid 27523052)
61. Tynan K, Comeau K, Pearson M, et al. Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains. Hum Mol Genet 1993;2:1813-21. (Pubitemid 23326605)
62. Palz M, Tiecke F, Booms P, et al. Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation. Am J Med Genet 2000;91:212-21. (Pubitemid 30165427)
63. Collod-Beroud G, Beroud C, Ades L, et al. Marfan database (third edition): new mutations and new routines for the software. Nucleic Acids Res 1998;26:229-3.
64. Hiratzka LF, Bakris GL, Beckman JA, et al. 2010 ACCF/AHA/AATS/ACR/ASA/ SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with thoracic aortic disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. Circulation 2010;121:e266-369.
65. Detaint D, Aegerter P, Tubach F, et al. Rationale and design of a randomized clinical trial (Marfan Sartan) of angiotensin II receptor blocker therapy versus placebo in individuals with Marfan syndrome. Arch Cardiovasc Dis 2010;103:317-25.
66. Ladouceur M, Fermanian C, Lupoglazoff JM, et al. Effect of beta-blockade on ascending aortic dilatation in children with the Marfan syndrome. Am J Cardiol 2007;99:406-9. (Pubitemid 46149560)
67. Rossi-Foulkes R, Roman MJ, Rosen SE, et al. Phenotypic features and impact of beta blocker or calcium antagonist therapy on aortic lumen size in the Marfan syndrome. Am J Cardiol 1999;83:1364-8. (Pubitemid 29205747)
68. Shores J, Berger KR, Murphy EA, et al. Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan's syndrome. N Engl J Med 1994;330:1335-41.
69. Salim MA, Alpert BS, Ward JC, et al. Effect of beta-adrenergic blockade on aortic root rate of dilation in the Marfan syndrome. Am J Cardiol 1994;74:629-33. (Pubitemid 24279954)
70. Selamet Tierney ES, Feingold B, Printz BF, et al . Beta-blocker therapy does not alter the rate of aortic root dilation in pediatric patients with Marfan syndrome. J Pediatr 2007;150:77-82. (Pubitemid 44940887)
71. Habashi JP, Judge DP, Holm TM, et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 2006;312:117-21.
72. Radonic T, de Witte P, Baars MJ, et al. Losartan therapy in adults with Marfan syndrome: study protocol of the multi-center randomized controlled COMPARE trial. Trials 2010;11:3.
73. Cohn RD, van Erp C, Habashi JP, et al. Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states. Nat Med 2007;13:204-10.
74. Ramirez F, Dietz HC. Fibrillin-rich microfibrils: structural determinants of morphogenetic and homeostatic events. J Cell Physiol 2007;213:326-30. (Pubitemid 47509709)
75. Dallas SL, Keene DR, Bruder SP, et al. Role of the latent transforming growth factor beta binding protein 1 in fibrillin-containing microfibrils in bone cells in vitro and in vivo. J Bone Miner Res 2000;15:68-81. (Pubitemid 30026934)
76. Isogai Z, Ono RN, Ushiro S, et al. Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein. J Biol Chem 2003;278:2750-7. (Pubitemid 36801356)
77. Halford P. Fibrillin and Associated Proteins. 2012. http://www2.bioch.ox. ac.uk/handfordlab/fibrillin.htm (accessed Jul 2012).
78. Munger JS, Harpel JG, Gleizes PE, et al . Latent transforming growth factor-beta: structural features and mechanisms of activation. Kidney Int 1997;51:1376-82. (Pubitemid 27239886)
79. Bonewald LF. Regulation and regulatory activities of transforming growth factor beta. Crit Rev Eukaryot Gene Expr 1999;9:33-44. (Pubitemid 30103917)
80. Neptune ER, Frischmeyer PA, Arking DE, et al. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet 2003;33:407-11. (Pubitemid 36278859)
81. Brooke BS, Habashi JP, Judge DP, et al. Angiotensin II blockade and aortic-root dilation in Marfan 's syndrome. N Engl J Med 2008;358:2787-95. (Pubitemid 351930853)
82. Burnier M. Angiotensin II type 1 receptor blockers. Circulation 2001;103:904-12. (Pubitemid 32163892)
83. Lavoie P, Robitaille G, Agharazii M, et al. Neutralization of transforming growth factor-beta attenuates hypertension and prevents renal injury in uremic rats. J Hypertens 2005;23:1895-903. (Pubitemid 41830430)
84. 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;103:789-91. (Pubitemid 32163874)
85. Campistol JM, Inigo P, Larios S, et al. Role of transforming growth factor-beta1 in the progression of chronic allograft nephropathy. Nephrol Dial Transplant 2001;16(Suppl 1):114-16. (Pubitemid 32492521)
86. Holm TM, Habashi JP, Doyle JJ, et al. Noncanonical TGFbeta signaling contributes to aortic aneurysm progression in Marfan syndrome mice. Science 2011;332:358-61.
87. Xiong W, Knispel RA, Dietz HC, et al. Doxycycline delays aneurysm rupture in a mouse model of Marfan syndrome. J Vasc Surg 2008;47:166-72; discussion 72.
88. Gott VL, Greene PS, Alejo DE, et al. Replacement of the aortic root in patients with Marfan's syndrome. N Engl J Med 1999;340:1307-13. (Pubitemid 29196592)
89. Finkbohner R, Johnston D, Crawford ES, et al. Marfan syndrome. Long-term survival and complications after aortic aneurysm repair. Circulation 1995;91:728-33.
90. Gott VL, Pyeritz RE, Magovern GJ Jr, et al. Surgical treatment of aneurysms of the ascending aorta in the Marfan syndrome. Results of composite-graft repair in 50 patients. N Engl J Med 1986;314:1070-4. (Pubitemid 16137080)
91. Gott VL. Antoine Marfan and his syndrome: one hundred years later. Md Med J 1998;47:247-52.
92. Ahimastos AA, Aggarwal A, D'Orsa KM, et al . Effect of perindopril on large artery stiffness and aortic root diameter in patients with Marfan syndrome: a randomized controlled trial. JAMA 2007;298:1539-47. (Pubitemid 47529388)
93. Barreras A, Gurk-Turner C. Angiotensin II receptor blockers. Proc (Bayl Univ Med Cent) 2003;16:123-6.
94. Zhou Y, Poczatek MH, Berecek KH, et al. Thrombospondin 1 mediates angiotensin II induction of TGF-beta activation by cardiac and renal cells under both high and low glucose conditions. Biochem Biophys Res Commun 2006;339:633-41. (Pubitemid 41739714)
95. Wu L, Iwai M, Nakagami H, et al. Roles of angiotensin II type 2 receptor stimulation associated with selective angiotensin II type 1 receptor blockade with valsartan in the improvement of inflammation-induced vascular injury. Circulation 2001;104:2716-21. (Pubitemid 33108140)
96. Disse S, Abergel E, Berrebi A, et al. Mapping of a first locus for autosomal dominant myxomatous mitral-valve prolapse to chromosome 16p11.2-p12.1. Am J Hum Genet 1999;65:1242-51. (Pubitemid 30460374)
97. Glesby MJ, Pyeritz RE. Association of mitral valve prolapse and systemic abnormalities of connective tissue. A phenotypic continuum. JAMA 1989;262:523-8. (Pubitemid 19181261)
98. Rybczynski M, Bernhardt AM, Rehder U, et al. The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome. Am J Med Genet A 2008;146A:3157-66.
99. Ramsey BW, Davies J, McElvaney NG, et al. A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. N Engl J Med 2011;365:1663-72.