Heritable Ectopic Mineralization Disorders: The Paradigm of Pseudoxanthoma Elasticum

Journal of Investigative Dermatology

Volumn 132, Issue , 2012, Pages E15-E19

  Li, Qiaoli ^a   Uitto, Jouni ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BONE MINERALIZATION; GENETIC HETEROGENEITY; GENETICS; HUMAN; METABOLISM; PATHOLOGY; PHYSIOLOGY; PSEUDOXANTHOMA ELASTICUM; REVIEW;

CALCIFICATION, PHYSIOLOGIC; GENETIC HETEROGENEITY; HUMANS; PSEUDOXANTHOMA ELASTICUM;

EID: 84883052787     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/skinbio.2012.5     Document Type: Article

References (46)

1. Belinsky, M.G., Kruh, G.D., MOAT-E (ARA) is a full-length MRP/cMOAT subfamily transporter expressed in kidney and liver. Br J Cancer 80 (1999), 1342–1349.
2. Bergen, A.A., Plomp, A.S., Schuurman, E.J., et al. Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat Genet 25 (2000), 228–231.
3. Borst, P., van de Wetering, K., Schlingemann, R., Does the absence of ABCC6 (multidrug resistance protein 6) in patients with Pseudoxanthoma elasticum prevent the liver from providing sufficient vitamin K to the periphery?. Cell Cycle 7 (2008), 1575–1579.
4. Brampton, C., Yamaguchi, Y., Vanakker, O., et al. Vitamin K does not prevent soft tissue mineralization in a mouse model of pseudoxanthoma elasticum. Cell Cycle 10 (2011), 1810–1820.
5. Cai, L., Struk, B., Adams, M.D., et al. A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure. J Mol Med 78 (2000), 36–46.
6. Chassaing, N., Martin, L., Calvas, P., et al. Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet 42 (2005), 881–892.
7. Christiano, A.M., Lebwohl, M.G., Boyd, C.D., et al. Workshop on pseudoxanthoma elasticum: molecular biology and pathology of the elastic fibers. Jefferson Medical College, Philadelphia, Pennsylvania, June 10, 1992. J Invest Dermatol 99 (1992), 660–663.
8. Fülöp, K., Jiang, Q., Wetering, K.V., et al. ABCC6 does not transport vitamin K3-glutathione conjugate from the liver: relevance to pathomechanisms of pseudoxanthoma elasticum. Biochem Biophys Res Commun 415 (2011), 468–471.
9. Gorgels, T.G., Hu, X., Scheffer, G.L., et al. Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum. Hum Mol Genet 14 (2005), 1763–1773.
10. Gorgels, T.G., Waarsing, J.H., de Wolf, A., Dietary magnesium, not calcium, prevents vascular calcification in a mouse model for pseudoxanthoma elasticum. J Mol Med 88 (2010), 467–475.
11. Gorgels, T.G., Waarsing, J.H., Herfs, M., et al. Vitamin K supplementation increases vitamin K tissue levels but fails to counteract ectopic calcification in a mouse model for pseudoxanthoma elasticum. J Mol Med (Berl) 89 (2011), 1125–1135.
12. Hendig, D., Schulz, V., Arndt, M., Role of serum fetuin-A, a major inhibitor of systemic calcification, in pseudoxanthoma elasticum. Clin Chem 52 (2006), 227–234.
13. Ilias, A., Urban, Z., Seidl, T.L., et al. Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6). J Bio Chem 277 (2002), 16860–16867.
14. Jahnen-Dechent, W., Schinke, T., Trindl, A., et al. Cloning and targeted deletion of the mouse fetuin gene. J Bio Chem 272 (1997), 31496–31503.
15. –/–). J Invest Dermatol 130 (2010), 1288–1296.
16. Jiang, Q., Endo, M., Dibra, F., et al. Pseudoxanthoma elasticum is a metabolic disease. J Invest Dermatol 129 (2009), 348–354.
17. –/– mice, a model for pseudoxanthoma elasticum. Cell Cycle 10 (2011), 701–707.
18. Jiang, Q., Li, Q., Uitto, J., Aberrant mineralization of connective tissues in a mouse model of pseudoxanthoma elasticum: systemic and local regulatory factors. J Invest Dermatol 127 (2007), 1392–1402.
19. –/– mice and their wild-type counterparts halts ectopic mineralization in a murine model of pseudoxanthoma elasticum. Am J Pathol 176 (2010), 1855–1862.
20. –/–). Exp Dermatol 21 (2012), 694–699.
21. –/– mice, a model for Pseudoxanthoma elasticum. Matrix Biol 31 (2012), 246–252.
22. Klement, J.F., Matsuzaki, Y., Jiang, Q.J., et al. Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissues. Mol Cell Biol 25 (2005), 8299–8310.
23. –/– mice: effects of dietary modifications and a phosphate binder—a preliminary study. Exp Dermatol 17 (2008), 203–207.
24. –/–). J Invest Dermatol 129 (2009), 1388–1394.
25. Le Saux, O., Fülöp, K., Yamaguchi, Y., et al. Expression and in vivo rescue of human ABCC6 disease-causing mutants in mouse liver. PLoS One, 6, 2011, e24738.
26. Le Saux, O., Urban, Z., Goring, H.H., et al. Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16. Genomics 62 (1999), 1–10.
27. Le Saux, O., Urban, Z., Tschuch, C., et al. Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat Genet 25 (2000), 223–227.
28. Li, Q., Jiang, Q., Pfendner, E., et al. Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms. Exp Dermatol 18 (2009), 1–11.
29. Li, Q., Schurgers, L.J., Smith, A.C., et al. Coexistent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene. Am J Pathol 174 (2009), 534–540.
30. Li, Q., Grange, D.K., Armstrong, N.L., et al. Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes. J Invest Dermatol 129 (2009), 553–563.
31. –/– mice is affected by Ggcx gene deficiency and genetic background—a model for pseudoxanthoma elasticum. J Mol Med 88 (2010), 173–181.
32. Li, Q., Schumacher, W., Siegel, D., et al. Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene. Br J Dermatol 166 (2012), 1107–1111.
33. Miksch, S., Lumsden, A., Guenther, U.P., et al. Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6. Hum Mut 26 (2005), 235–248.
34. Neldner, K.H., Pseudoxanthoma elasticum. Clin Dermatol 6 (1988), 1–159.
35. Nitschke, Y., Baujat, G., Botschen, U., et al. Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am J Hum Genet 90 (2012), 25–39.
36. Pfendner, E.G., Vanakker, O.M., Terry, S.F., et al. Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. J Med Genet 44 (2007), 621–628.
37. Raybould, M.C., Birley, A.J., Moss, C., Exclusion of an elastin gene (ELN) mutation as the cause of pseudoxanthoma elasticum (PXE) in one family. Clin Genet 45 (1994), 48–51.
38. Ringpfeil, F., Lebwohl, M.G., Christiano, A.M., et al. Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. Proc Natl Acad Sci USA 97 (2000), 6001–6006.
39. Scheffer, G.L., Hu, X., Pijnenborg, A.C., et al. MRP6 (ABCC6) detection in normal human tissues and tumors. Lab Invest 82 (2002), 515–518.
40. Sprecher, E., Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification. J Invest Dermatol 130 (2010), 652–660.
41. Struk, B., Cai, L., Zach, S., et al. Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum. J Mol Med 78 (2000), 282–286.
42. Uitto, J., Bercovitch, L., Terry, S.F., et al. Pseudoxanthoma elasticum: progress in diagnostics and research towards treatment: Summary of the 2010 PXE International Research Meeting. Am J Med Genet A 155A (2011), 1517–1526.
43. Uitto, J., Li, Q., Jiang, Q., Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms. J Invest Dermatol 130 (2010), 661–670.
44. Vanakker, O.M., Martin, L., Gheduzzi, D., et al. Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity. J Invest Dermatol 127 (2007), 581–587.
45. Walker, E.R., Frederickson, R.G., Mayes, M.D., The mineralization of elastic fibers and alterations of extracellular matrix in pseudoxanthoma elasticum. Ultrastructure, immunocytochemistry, and X-ray analysis. Arch Dermatol 125 (1989), 70–76.
46. Li, Q., Uitto, J., Heritable Ectopic Mineralization Disorders: The Paradigm of Pseudoxanthoma Elasticum. J Invest Dermatol 132 (2012), E15–E19.