Developmental basis for filamin-A-associated myxomatous mitral valve disease

Cardiovascular Research

Volumn 96, Issue 1, 2012, Pages 109-119

  Sauls, Kimberly ^a   De Vlaming, Annemarieke ^a   Harris, Brett S ^a   Williams, Katherine ^a   Wessels, Andy ^a   Levine, Robert A ^b   Slaugenhaupt, Susan A ^b   Goodwin, Richard L ^c   Pavone, Luigi Michele ^d   Merot, Jean ^e   Schott, Jean Jacques ^e   Le Tourneau, Thierry ^e   Dix, Thomas ^f   Jesinkey, Sean ^f   Feng, Yuanyi ^g   Walsh, Christopher ^h   Zhou, Bin ⁱ   Baldwin, Scott ^j   Markwald, Roger R ^a   Norris, Russell A ^a  

^a MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c UNIVERSITY OF SOUTH CAROLINA SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^e L INSTITUT DU THORAX   (France)

^f MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^g NORTHWESTERN UNIVERSITY   (United States)

^h BOSTON CHILDREN S HOSPITAL   (United States)

ⁱ ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^j VANDERBILT UNIVERSITY   (United States)

more..

Author keywords

Filamin A; Myxomatous valve disease; Serotonin; Transglutaminase 2; Valve maturation

Indexed keywords

FILAMIN A; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE 2; PROTEIN INTERACTING WITH PROTEIN KINASE C; SEROTONIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; ASSAY; BIOCHEMISTRY; COMPUTER MODEL; EXTRACELLULAR MATRIX; FETUS; HEART DEVELOPMENT; MATRIX ASSAY; MITRAL VALVE DISEASE; MORPHOMETRICS; MOUSE; MYXOMATOUS MITRAL VALVE DISEASE; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ANIMALS; CONTRACTILE PROTEINS; GENETIC DISEASES, X-LINKED; GTP-BINDING PROTEINS; HEART DEFECTS, CONGENITAL; MALE; MICE; MICE, KNOCKOUT; MICROFILAMENT PROTEINS; MITRAL VALVE; MITRAL VALVE PROLAPSE; MYXOMA; SEROTONIN; SEROTONIN PLASMA MEMBRANE TRANSPORT PROTEINS; TRANSGLUTAMINASES; TRYPTOPHAN HYDROXYLASE;

EID: 84866659103     PISSN: 00086363     EISSN: 17553245     Source Type: Journal    
DOI: 10.1093/cvr/cvs238     Document Type: Article

References (41)

1. Kyndt F, Gueffet JP, Probst V, Jaafar P, Legendre A, Le Bouffant F et al. Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy. Circulation 2007;115:40-49.
2. Lardeux A, Kyndt F, Lecointe S, Marec HL, Merot J, Schott JJ et al. Filamin-a-related myxomatous mitral valve dystrophy: genetic, echocardiographic and functional aspects. J Cardiovasc Transl Res 2011;4:748-756.
3. Kim H, Sengupta A, Glogauer M, McCulloch CA. Filamin A regulates cell spreading and survival via beta1 integrins. Exp Cell Res 2008;314:834-846.
4. Shizuta Y, Shizuta H, Gallo M, Davies P, Pastan I. Purification and properties of filamin, and actin binding protein from chicken gizzard. J Biol Chem 1976;251:6562-6567.
5. D'Addario M, Arora PD, Fan J, Ganss B, Ellen RP, McCulloch CA. Cytoprotection against mechanical forces delivered through beta 1 integrins requires induction of filamin A. J Biol Chem 2001;276:31969-31977.
6. Stossel TP, Condeelis J, Cooley L, Hartwig JH, Noegel A, Schleicher M et al. Filamins as integrators of cell mechanics and signalling. Nat Rev Mol Cell Biol 2001;2:138-145.
7. Zhou AX, Hartwig JH, Akyurek LM. Filamins in cell signaling, transcription and organ development. Trends Cell Biol 2010;20:113-123.
8. Feng Y, Chen MH, Moskowitz IP, Mendonza AM, Vidali L, Nakamura F et al. Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis. Proc Natl Acad Sci USA 2006;103:19836-19841.
9. Hart AW, Morgan JE, Schneider J, West K, McKie L, Bhattacharya S et al. Cardiac malformations and midline skeletal defects in mice lacking filamin A. Hum Mol Genet 2006; 15:2457-2467.
10. Norris RA, Damon B, Mironov V, Kasyanov V, Ramamurthi A, Moreno-Rodriguez R et al. Periostin regulates collagen fibrillogenesis and the biomechanical properties of connective tissues. J Cell Biochem 2007;101:695-711.
11. Watts SW, Priestley JR, Thompson JM. Serotonylation of vascular proteins important to contraction. PLoS One 2009;4:e5682.
12. Butcher JT, Norris RA, Hoffman S, Mjaatvedt CH, Markwald RR. Periostin promotes atrioventricular mesenchyme matrix invasion and remodeling mediated by integrin signaling through Rho/PI 3-kinase. Dev Biol 2007;302:256-266.
13. de Vlaming A, Sauls K, Hajdu Z, Visconti RP, Mehesz AN, Levine RA et al. Atrioventricular valve development: new perspectives on an old theme. Differentiation 2012;84: 103-116.
14. Norris RA, Moreno-Rodriguez R, Wessels A, Merot J, Bruneval P, Chester AH et al. Expression of the familial cardiac valvular dystrophy gene, filamin-A, during heart morphogenesis. Dev Dyn 2010;239:2118-2127.
15. Khew ST, Panengad PP, Raghunath M, Tong YW. Characterization of amine donor and acceptor sites for tissue type transglutaminase using a sequence from the C-terminus of human fibrillin-1 and the N-terminus of osteonectin. Biomaterials 2010;31: 4600-4608.
16. Walther DJ, Stahlberg S, Vowinckel J. Novel roles for biogenic monoamines: from monoamines in transglutaminase-mediated post-translational protein modification to monoaminylation deregulation diseases. FEBS J 2011;278:4740-4755.
17. Stegemann JP, Nerem RM. Altered response of vascular smooth muscle cells to exogenous biochemical stimulation in two-and three-dimensional culture. Exp Cell Res 2003;283:146-155.
18. Kyndt F, Schott JJ, Trochu JN, Baranger F, Herbert O, Scott V et al. Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28. Am J Hum Genet 1998;62:627-632.
19. Norris RA, Moreno-Rodriguez RA, Sugi Y, Hoffman S, Amos J, Hart MM et al. Periostin regulates atrioventricular valve maturation. Dev Biol 2008;316:200-213.
20. Sane DC, Kontos JL, Greenberg CS. Roles of transglutaminases in cardiac and vascular diseases. Front Biosci 2007;12:2530-2545.
21. Walther DJ, Peter JU, Winter S, Holtje M, Paulmann N, Grohmann M et al. Serotonylation of small GTPases is a signal transduction pathway that triggers platelet alpha-granule release. Cell 2003;115:851-862.
22. Chester AH, Misfeld M, Sievers HH, Yacoub MH. Influence of 5-hydroxytryptamine on aortic valve competence in vitro. J Heart Valve Dis 2001;10:822-825; discussion 825-826.
23. Connolly HM, Crary JL, McGoon MD, Hensrud DD, Edwards BS, Edwards WD et al. Valvular heart disease associated with fenfluramine-phentermine. N Engl J Med 1997; 337:581-588.
24. Connolly JM, Bakay MA, Fulmer JT, Gorman RC, Gorman JH III, Oyama MA et al. Fenfluramine disrupts the mitral valve interstitial cell response to serotonin. Am J Pathol 2009;175:988-997.
25. Elangbam CS, Job LE, Zadrozny LM, Barton JC, Yoon LW, Gates LD et al. 5-hydroxytryptamine (5HT)-induced valvulopathy: compositional valvular alterations are associated with 5HT2B receptor and 5HT transporter transcript changes in Sprague-Dawley rats. Exp Toxicol Pathol 2008;60:253-262.
26. Gustafsson BI, Tommeras K, Nordrum I, Loennechen JP, Brunsvik A, Solligard E et al. Long-term serotonin administration induces heart valve disease in rats. Circulation 2005;111:1517-1522.
27. Shively BK, Roldan CA, Gill EA, Najarian T, Loar SB. Prevalence and determinants of valvulopathy in patients treated with dexfenfluramine. Circulation 1999;100: 2161-2167.
28. Pavone LM, Spina A, Rea S, Santoro D, Mastellone V, Lombardi P et al. Serotonin transporter gene deficiency is associated with sudden death of newborn mice through activation of TGF-beta1 signalling. J Mol Cell Cardiol 2009;47:691-697.
29. Disatian S, Orton EC. Autocrine serotonin and transforming growth factor beta 1 signaling mediates spontaneous myxomatous mitral valve disease. J Heart Valve Dis 2009; 18:44-51.
30. Mekontso-Dessap A, Brouri F, Pascal O, Lechat P, Hanoun N, Lanfumey L et al. Deficiency of the 5-hydroxytryptamine transporter gene leads to cardiac fibrosis and valvulopathy in mice. Circulation 2006;113:81-89.
31. Burger AJ, Sherman HB, Charlamb MJ, Kim J, Asinas LA, Flickner SR et al. Low prevalence of valvular heart disease in 226 phentermine-fenfluramine protocol subjects prospectively followed for up to 30 months. J Am Coll Cardiol 1999;34:1153-1158.
32. Jian B, Xu J, Connolly J, Savani RC, Narula N, Liang B et al. Serotonin mechanisms in heart valve disease I: serotonin-induced up-regulation of transforming growth factorbeta1 via G-protein signal transduction in aortic valve interstitial cells. Am J Pathol 2002;161:2111-2121.
33. Oyama MA, Levy RJ. Insights into serotonin signaling mechanisms associated with canine degenerative mitral valve disease. J Vet Intern Med 2011;24:27-36.
34. Bakker MK, Kerstjens-Frederikse WS, Buys CH, de Walle HE, de jong-van den Berg LT. First-trimester use of paroxetine and congenital heart defects: a populationbased case-control study. Birth Defects Res A Clin Mol Teratol 2010;88:94-100.
35. Borue X, Chen J, Condron BG. Developmental effects of SSRIs: lessons learned from animal studies. Int J Dev Neurosci 2007;25:341-347.
36. Hinton RB, Yutzey KE. Heart valve structure and function in development and disease. Annu Rev Physiol 2011;73:29-46.
37. Markwald RR, Norris RA, Moreno-Rodriguez R, Levine RA. Developmental basis of adult cardiovascular diseases: valvular heart diseases. Ann N Y Acad Sci 2011;1188: 177-183.
38. Canty EG, Starborg T, Lu Y, Humphries SM, Holmes DF, Meadows RS et al. Actin filaments are required for fibripositor-mediated collagen fibril alignment in tendon. J Biol Chem 2006;281:38592-38598.
39. Farsi JM, Aubin JE. Microfilament rearrangements during fibroblast-induced contraction of three-dimensional hydrated collagen gels. Cell Motil 1984;4:29-40.
40. Banerjee I, Yekkala K, Borg TK, Baudino TA. Dynamic interactions between myocytes, fibroblasts, and extracellular matrix. Ann N Y Acad Sci 2006;1080:76-84.
41. Hynes RO. Integrins: bidirectional, allosteric signaling machines. Cell 2002;110: 673-687.