Serum factors from pseudoxanthoma elasticum patients alter elastic fiber formation in vitro

Journal of Investigative Dermatology

Volumn 126, Issue 7, 2006, Pages 1497-1505

  Le Saux, Olivier ^a   Bunda, Severa ^b   VanWart, Christopher M ^a   Douet, Vanessa ^a   Got, Laurence ^c   Martin, Ludovic ^c   Hinek, Aleksander ^b  

^a UNIVERSITY OF HAWAII   (United States)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c Hopital Porte Madeleine   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; ELASTIC FIBER; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; KIDNEY; LIVER; PRIORITY JOURNAL; PROTEIN EXPRESSION; PSEUDOXANTHOMA ELASTICUM; SERUM FACTOR; SKIN FIBROBLAST; SMOOTH MUSCLE FIBER;

BLOOD PROTEINS; CARDIOVASCULAR SYSTEM; CELLS, CULTURED; CHILD; CONNECTIVE TISSUE; ELASTIC TISSUE; ELASTIN; EYE; FEMALE; FIBROBLASTS; GENE EXPRESSION REGULATION; HUMANS; MALE; METABOLIC DISEASES; MULTIDRUG RESISTANCE-ASSOCIATED PROTEINS; MUSCLE, SMOOTH; MUTATION; PSEUDOXANTHOMA ELASTICUM; SKIN; TROPOELASTIN;

EID: 33745213755     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/sj.jid.5700201     Document Type: Article

References (46)

1. Baccarani-Contri M, Boraldi F, Taparelli F, De Paepe A, Ronchetti IP (1996) Matrix proteins with high affinity for calcium ions are associated with mineralization within the elastic fibers of pseudoxanthoma elasticum dermis. Am J Pathol 148:569-77
2. Bacchelli B, Quaglino D, Gheduzzi D, Taparelli F, Boraldi F, Trolli B et al. (1999) Identification of heterozygote carriers in families with a recessive form of pseudoxanthoma elasticum (PXE). Mod Pathol 12:1112-23
3. Beck K, Hayashi K, Dang K, Hayashi M, Boyd CD (2005) Analysis of ABCC6 (MRP6) in normal human tissues. Histochem Cell Biol 123:517-28
4. Beck K, Hayashi K, Nishiguchi B, Le Saux O, Hayashi M, Boyd CD (2003) The distribution of Abcc6 in normal mouse tissues suggests multiple functions for this ABC transporter. J Histochem Cytochem 51:887-902
5. Bedell-Hogan D, Trackman P, Abrams W, Rosenbloom J, Kagan H (1993) Oxidation, cross-linking, and insolubilization of recombinant tropoelastin by purified lysyl oxidase. J Biol Chem 268:10345-50
6. Bellingham CM, Woodhouse KA, Robson P, Rothstein SJ, Keeley FW (2001) Self aggregation characteristics of recombinantly expressed human elastin polypeptides. Biochem Biophys Acta 1550:6-19
7. Bergen AA, Plomp AS, Schuurman EJ, Terry S, Breuning M, Dauwerse H et al. (2000) Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat Genet 25:228-31
8. Boraldi F, Quaglino D, Croce MA, Garcia Fernandez MI, Tiozzo R, Gheduzzi D et al. (2003) Multidrug resistance protein-6 (MRP6) in human dermal fibroblasts. Comparison between cells from normal subjects and from Pseudoxanthoma elasticum patients. Matrix Biol 22:491-500
9. Chassaing N, Martin L, Calvas P, Le Bert M, Hovnanian A (2005) Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet 42:881-92
10. Chassaing N, Martin L, Mazereeuw J, Barrie L, Nizard S, Bonafe JL et al. (2004) Novel ABCC6 mutations in pseudoxanthoma elasticum. J Investig Dermatol 122:608-13
11. Clarke AW, Weiss AS (2004) Microfibril-associated glycoprotein-1 binding to tropoelastin: multiple binding sites and the role of divalent cations. Eur J Biochem 271:3085-90
12. Davis EC (1993) Stability of elastin in the developing mouse aorta: a quantitative radioautographic study. Histochemistry 100:17-26
13. Dietz HC, Pyeritz RE (1995) Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum Mol Genet 4:1799-809
14. Gheduzzi D, Sammarco R, Quaglino D, Bercovitch L, Terry S, Taylor W et al. (2003) Extracutaneous ultrastructural alterations in pseudoxanthoma elasticum. Ultrastruct Pathol 27:375-84
15. Gorgels TG, Hu X, Scheffer GL, van der Wal AC, Toonstra J, de Jong PT et al. (2005) Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum. Hum Mol Genet 14:1763-73
16. Hinek A, Rabinovitch M, Keeley F, Okamura-Oho Y, Callahan J (1993) The 67-kD elastin/laminin-binding protein is related to an enzymatically inactive, alternatively spliced form of beta-galactosidase. J Clin Investig 91:1198-205
17. Hinek A, Thyberg J, Friberg U (1976) Heterotopic transplantation of isolated aortic cells, an electron microscopical study. Cell Tissue Res 172:59-79
18. Hinek A, Wilson SE (2000) Impaired elastogenesis in Hurler disease: dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly. Am J Pathol 156:925-38
19. Hornstra IK, Birge S, Starcher B, Bailey AJ, Mecham RP, Shapiro SD (2003) Lysyl oxidase is required for vascular and diaphragmatic development in mice. J Biol Chem 278:14387-93
20. Ilias A, Urban Z, Seidl TL, Le Saux O, Sinko E, Boyd CD et al. (2002) Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6). J Biol Chem 277:16860-7
21. Kielty CM, Sherratt MJ, Shuttleworth CA (2002) Elastic fibres. J Cell Sci 115:2817-28
22. Klement JF, Matsuzaki Y, Jiang QJ, Terlizzi J, Choi HY, Fujimoto N et al. (2005) Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissues. Mol Cell Biol 25:8299-310
23. Kool M, van der Linden M, de Haas M, Baas F, Borst P (1999) Expression of human MRP6, a homologue of the multidrug resistance protein gene MRP1, in tissues and cancer cells. Cancer Res 59:175-82
24. Le Saux O, Beck K, Sachsinger C, Silvestri C, Treiber C, Goring HH et al. (2001) A spectrum of abcc6 mutations is responsible for pseudoxanthoma elasticum. Am J Hum Genet 69:749-64
25. Le Saux O, Urban Z, Tschuch C, Csiszar K, Bacchelli B, Quaglino D et al. (2000) Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat Genet 25:223-7
26. Lebwohl M, Schwartz E, Lemlich G, Lovelace O, Shaikh-Bahai F, Fleischmajer R (1993) Abnormalities of connective tissue components in lesional and non-lesional tissue of patients with pseudoxanthoma elasticum. Arch Dermatol Res 285:121-6
27. Liu X, Zhao Y, Gao J, Pawlyk B, Starcher B, Spencer JA et al. (2004) Elastic fiber homeostasis requires lysyl oxidase-like 1 protein. Nat Genet 36:178-82
28. Madon J, Hagenbuch B, Landmann L, Meier PJ, Stieger B (2000) Transport function and hepatocellular localization of mrp6 in rat liver. Mol Pharmacol 57:634-11
29. Maki JM, Rasanen J, Tikkanen H, Sormunen R, Makikallio K, Kivirikko KI et al. (2002) Inactivation of the lysyl oxidase gene Lox leads to aortic aneurysms, cardiovascular dysfunction, and perinatal death in mice. Circulation 106:2503-9
30. Mendelsohn G, Bulkley BH, Hutchins GM (1978) Cardiovascular manifestations of Pseudoxanthoma elasticum. Arch Pathol Lab Med 102:298-302
31. Neldner KH (1988) Pseudoxanthoma elasticum. Int J Dermatol 27:98-100
32. Nishida H, Endo M, Koyanagi H, Ichihara T, Takao A, Maruyama M (1990) Coronary artery bypass in a 15-year-old girl with pseudoxanthoma elasticum. Ann Thorac Surg 49:483-5
33. Quaglino D, Boraldi F, Barbieri D, Croce A, Tiozzo R, Pasquali Ronchetti I (2000) Abnormal phenotype of in vitro dermal fibroblasts from patients with Pseudoxanthoma elasticum (PXE). Biochim Biophys Acta 1501:51-62
34. Ringpfeil F, Lebwohl MG, Christiano AM, Uitto J (2000) Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. Proc Natl Acad Sci USA 97:6001-6
35. Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z et al. (1989) Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245:1066-73
36. Rock MJ, Cain SA, Freeman LJ, Morgan A, Mellody K, Marson A et al. (2004) Molecular basis of elastic fiber formation. Critical interactions and a tropoelastin-fibrillin-1 cross-link. J Biol Chem 279:23748-58
37. Scheffer GL, Pijnenborg ACLM, Schuurman E, Hu XF, Wijnholds J, Bergen AAB (2001) MRP6 (ABCC6) is localized at the basolateral membranes of hepatocytes. Third FEBS Advanced lecture Course "ATP-Binding Cassette (ABC) Proteins: From Genetic Disease to Multidrug Resistance", March 2001
38. Sherratt MJ, Baldock C, Haston JL et al. (2003) Fibrillin microfibrils are stiff reinforcing fibres in compliant tissues. J Mol Biol 332:183-93
39. Struk B, Cai L, Zach S, Ji W, Chung J, Lumsden A et al. (2000) Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum. J Mol Med 78:282-6
40. Sugitani H, Wachi H, Murata H, Sato F, Mecham RP, Seyama Y (2003) Characterization of an in vitro model of calcification in retinal pigmented epithelial cells. J Atheroscler Thromb 10:48-56
41. Thomas PM, Cote GJ, Wohllk N, Haddad B, Mathew PM, Rabl W et al. (1995) Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science 268:426-9
42. Toh S, Wada M, Uchiumi T, Inokuchi A, Makino Y, Horie Y et al. (1999) Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP-binding-cassette region in Dubin-Johnson syndrome. Am J Hum Genet 64:739-46
43. Uitto J, Boyd CD, Lebwohl MG, Moshell AN, Rosenbloom J, Terry S (1998) International centennial meeting on pseudoxanthoma elasticum: progress in PXE research. J Investig Dermatol 110:840-2
44. Uitto J, Pulkkinen L, Ringpfeil F (2001) Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface? Mol Med Today 7:13-7
45. Uitto J, Shamban A (1987) Heritable skin diseases with molecular defects in collagen or elastin. Dermatol Clin 5:63-84
46. Weenink AC, Dijkman G, de Meijer PH (1996) Pseudoxanthoma elasticum and its complications: two case reports. Neth J Med 49:24-9