The role of periodontal ligament cells in delayed tooth eruption in patients with cleidocranial dysostosis;Die Rolle der Parodontalligamentzellen im Rahmen des gestörten Zahndurchbruchs bei Patienten mit Cleidocranialer Dysostose

Journal of Orofacial Orthopedics

Volumn 70, Issue 6, 2009, Pages 495-510

  Lossdörfer, Stefan ^a   Abou Jamra, Bassel ^b   Rath Deschner, Birgit ^a   Götz, Werner ^a   Abou Jamra, Rami ^a   Braumann, Bert ^c   Jäger, Andreas ^a  

^a UNIVERSITY OF BONN   (Germany)

^b UNIVERSITY OF ROSTOCK   (Germany)

^c UNIVERSITY OF COLOGNE   (Germany)

Author keywords

Cleidocranial dysplasia; Human PDL cells; In vitro; OPG; Osteoclastogenesis; RANKL; Tooth eruption

Indexed keywords

CELL DIFFERENTIATION; CELLS, CULTURED; CLEIDOCRANIAL DYSPLASIA; CORE BINDING FACTOR ALPHA 1 SUBUNIT; FEMALE; HUMANS; MALE; OSTEOCLASTS; PERIODONTAL LIGAMENT; POLYMORPHISM, SINGLE NUCLEOTIDE; TOOTH ERUPTION; TOOTH, UNERUPTED;

EID: 73449137893     PISSN: 14345293     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00056-009-9934-x     Document Type: Article

References (69)

1. N. Adya L.H. Castilla P.P. Liu 2000 Function of CBFbeta/Bro proteins Semin Cell Dev Biol 11 361 368 10.1006/scdb.2000.0189 11105900 (Pubitemid 32096085)
2. E.K. Basdra G. Komposch 1997 Osteoblast-like properties of human periodontal ligament cells: an in vitro analysis Eur J Orthod 19 615 621 10.1093/ejo/19.6.615 9458594
3. U. Baumert I. Golan O. Driemel, et al. 2006 Dysostosis cleidocranialis - Beschreibung und Analyse einer Patientengruppe Mund Kiefer Gesichtschir 10 385 393 10.1007/s10006-006-0029-1 17051365 (Pubitemid 44650598)
4. C. Bergwitz A. Prochnau B. Mayr, et al. 2001 Identification of novel CBFA1/RUNX2 mutations causing cleidocranial dysplasia J Inherit Metab Dis 24 648 656 10.1023/A:1012758925617 11768584 (Pubitemid 33130086)
5. A.L. Bronckers M.A. Engelse A. Cavender, et al. 2001 Cell-specific patterns of Cbfa1 mRNA and protein expression in postnatal murine dental tissues Mech Dev 101 255 258 10.1016/S0925-4773(00)00562-1 11231086 (Pubitemid 32186337)
6. S. Camilleri F. McDonald 2006 Runx2 and dental development Eur J Oral Sci 114 361 373 10.1111/j.1600-0722.2006.00399.x 17026500 (Pubitemid 44526673)
7. D. Chitayat K.A. Hodgkinson E.M. Azouz 1992 Intrafamilial variability in cleidocranial dysplasia: a three generation family Am J Med Genet 42 298 303 10.1002/ajmg.1320420307 1536165
8. A.M. Chou V. Sae-Lim T. Lim, et al. 2002 Culturing and characterization of human periodontal ligament fibroblasts - a preliminary study Materials Science and Engineering 20 77 83 10.1016/S0928-4931(02)00016-4 (Pubitemid 34718481)
9. S.C. Cooper C.M. Flaitz D.A. Johnston, et al. 2001 A natural history of cleidocranial dysplasia Am J Med Genet 104 1 6 10.1002/ajmg.10024 11746020 (Pubitemid 33020141)
10. Y. Deyama S. Takeyama M. Koshikawa, et al. 2000 Osteoblast maturation suppressed osteoclastogenesis in coculture with bone marrow cells Biochem Biophys Res Commun 274 249 254 10.1006/bbrc.2000.3127 10903926 (Pubitemid 30496787)
11. H. Drissi A. Pouliot C. Koolloos, et al. 2002 1,25-(OH)2-vitamin D3 suppresses the bone-related Runx2/Cbfa1 gene promoter Exp Cell Res 274 323 333 10.1006/excr.2002.5474 11900492 (Pubitemid 34936940)
12. P. Ducy M. Starbuck M. Priemel, et al. 1999 A Cbfa1-dependent genetic pathway controls bone formation beyond embryonic development Genes Dev 13 1025 1036 10.1101/gad.13.8.1025 10215629
13. H. Enomoto S. Shiojiri K. Hoshi, et al. 2003 Induction of osteoclast differentiation by Runx2 through receptor activator of nuclear factorkappa B ligand (RANKL) and osteoprotegerin regulation and partial rescue of osteoclastogenesis in Runx2-/- mice by RANKL transgene J Biol Chem 278 23971 23977 10.1074/jbc.M302457200 12697767 (Pubitemid 36830226)
14. G.J. Feldman N.H. Robin L.A. Brueton, et al. 1995 A gene for cleidocranial dysplasia maps to the short arm of chromosome 6 Am J Hum Genet 56 938 943 7717404
15. Y.H. Gao T. Shinki T. Yuasa, et al. 1998 Potential role of cbfa1, an essential transcriptional factor for osteoblast differentiation, in osteoclastogenesis: regulation of mRNA expression of osteoclast differentiation factor (ODF) Biochem Biophys Res Commun 252 697 702 10.1006/bbrc.1998.9643 9837769 (Pubitemid 28556839)
16. B.D. Gelb E. Cooper M. Shevell, et al. 1995 Genetic mapping of the cleidocranial dysplasia (CCD) locus on chromosome band 6p21 to include a microdeletion Am J Med Genet 58 200 205 10.1002/ajmg.1320580222 8533817
17. A. Giannotti A. Tessa C. Patrono, et al. 2000 A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia Hum Mutat 16 277 10.1002/1098-1004(200009)16:3<277::AID-HUMU25>3.0.CO;2-V 10980549
18. I. Golan U. Baumert B.P. Hrala, et al. 2004 Early craniofacial signs of cleidocranial dysplasia Int J Paediatr Dent 14 49 53 10.1111/j.1365-263X.2004. 00501.x 14706028 (Pubitemid 38178146)
19. K.K. Gundlach R. Buurman 1978 Dysplasia cleidocranialis - histologische Befunde am Zahnzement Dtsch Zahnarztl Z 33 574 578 278739
20. T. Hasegawa Y. Yoshimura T. Kikuiri, et al. 2002 Expression of receptor activator of NF-kappa B ligand and osteoprotegerin in culture of human periodontal ligament cells J Periodontal Res 37 405 411 10.1034/j.1600-0765. 2002.01603.x 12472833
21. J. Heinrich S. Bsoul J. Barnes, et al. 2005 CSF-1, RANKL and OPG regulate osteoclastogenesis during murine tooth eruption Arch Oral Biol 50 897 908 10.1016/j.archoralbio.2005.02.007 16137499 (Pubitemid 41219336)
22. L.C. Hofbauer 1999 Osteoprotegerin ligand and osteoprotegerin: novel implications for osteoclast biology and bone metabolism Eur J Endocrinol 141 195 210 10.1530/eje.0.1410195 10474114 (Pubitemid 29465922)
23. L.C. Hofbauer F. Gori B.L. Riggs, et al. 1999 Stimulation of osteoprotegerin ligand and inhibition of osteoprotegerin production by glucocorticoids in human osteoblastic lineage cells: potential paracrine mechanisms of glucocorticoid-induced osteoporosis Endocrinology 140 4382 4389 10.1210/en.140.10.4382 10499489
24. B.L. Jensen S. Kreiborg 1990 Development of the dentition in cleidocranial dysplasia J Oral Pathol Med 19 89 93 10.1111/j.1600-0714.1990. tb00803.x 2341976 (Pubitemid 20227743)
25. B.L. Jensen 1994 Cleidocranial dysplasia: craniofacial morphology in adult patients J Craniofac Genet Dev Biol 14 163 176 7852545
26. H. Jiang J. Sodek G. Karsenty, et al. 1999 Expression of core binding factor Osf2/Cbfa-1 and bone sialoprotein in tooth development Mech Dev 81 169 173 10.1016/S0925-4773(98)00232-9 10330494 (Pubitemid 29183055)
27. H. Kanzaki M. Chiba Y. Shimizu, et al. 2001 Dual regulation of osteoclast differentiation by periodontal ligament cells through RANKL stimulation and OPG inhibition J Dent Res 80 887 891 10.1177/00220345010800030801 11379890
28. B. Kargul I.M. Salih L. Yilmaz, et al. 1997 Cleidocranial dysostosis: report of a case J Clin Pediatr Dent 22 83 86 9643211
29. V. Kartsogiannis H. Zhou N.J. Horwood, et al. 1999 Localization of RANKL (receptor activator of NF kappa B ligand) mRNA and protein in skeletal and extraskeletal tissues Bone 25 525 534 10.1016/S8756-3282(99)00214-8 10574572 (Pubitemid 29469458)
30. H.J. Kim S.H. Nam H.S. Park, et al. 2006 Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype J Cell Physiol 207 114 122 10.1002/jcp.20552 16270353
31. S. Kitazawa K. Kajimoto T. Kondo, et al. 2003 Vitamin D3 supports osteoclastogenesis via functional vitamin D response element of human RANKL gene promoter J Cell Biochem 89 771 777 10.1002/jcb.10567 12858342 (Pubitemid 36759137)
32. T. Komori H. Yagi S. Nomura, et al. 1997 Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts Cell 89 755 764 10.1016/S0092-8674(00)80258-5 9182763
33. D.L. Lacey E. Timms H.L. Tan, et al. 1998 Osteoprotegerin ligand is a cytokine that regulates osteoclast differentiation and activation Cell 93 165 176 10.1016/S0092-8674(00)81569-X 9568710 (Pubitemid 28180851)
34. B. Lee K. Thirunavukkarasu L. Zhou, et al. 1997 Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia Nat Genet 16 307 310 10.1038/ng0797-307 9207800 (Pubitemid 27280218)
35. Z. Li J. Yan C.J. Matheny, et al. 2003 Energetic contribution of residues in the Runx1 Runt domain to DNA binding J Biol Chem 278 33088 33096 10.1074/jbc.M303973200 12807882 (Pubitemid 37055755)
36. J.B. Lian A. Javed S.K. Zaidi, et al. 2004 Regulatory controls for osteoblast growth and differentiation: role of Runx/Cbfa/AML factors Crit Rev Eukaryot Gene Expr 14 1 41 10.1615/CritRevEukaryotGeneExpr.v14.i12.10 15104525
37. S. Lossdorfer W. Gotz A. Jager 2005 PTH(1-34) affects osteoprotegerin production in human PDL cells in vitro J Dent Res 84 634 638 10.1177/154405910508400710 15972592 (Pubitemid 43827845)
38. S. Lossdorfer W. Gotz A. Jager 2006 Parathyroid hormone modifies human periodontal ligament cell proliferation and survival in vitro J Periodontal Res 41 519 526 10.1111/j.1600-0765.2006.00899.x 17076776 (Pubitemid 44656927)
39. S. Lossdorfer W. Gotz B. Rath-Deschner, et al. 2006 Parathyroid hormone(1-34) mediates proliferative and apoptotic signaling in human periodontal ligament cells in vitro via protein kinase C-dependent and protein kinase A-dependent pathways Cell Tissue Res 325 469 479 10.1007/s00441-006-0198- 0 16670921 (Pubitemid 44126162)
40. S. Lossdorfer S. Stier W. Gotz, et al. 2006 Maturation-state dependent response of human periodontal ligament cells to an intermittent parathyroid hormone exposure in vitro J Periodontal Res 41 62 72 10.1111/j.1600-0765.2005. 00838.x 16409257
41. P.L. Lukinmaa B.L. Jensen I. Thesleff, et al. 1995 Histological observations of teeth and peridental tissues in cleidocranial dysplasia imply increased activity of odontogenic epithelium and abnormal bone remodeling J Craniofac Genet Dev Biol 15 212 221 8719350
42. C.J. Matheny M.E. Speck P.R. Cushing, et al. 2007 Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles EMBO J 26 1163 1175 10.1038/sj.emboj.7601568 17290219 (Pubitemid 46303591)
43. L. Mehta I.C. Verma 1992 Cleidocranial dysplasia: underdiagnosed and misdiagnosed? Indian J Pediatr 59 633 636 10.1007/BF02833006 1459687
44. S. Mundlos J.B. Mulliken D.L. Abramson, et al. 1995 Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family Hum Mol Genet 4 71 75 7711736
45. S. Mundlos F. Otto C. Mundlos, et al. 1997 Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia Cell 89 773 779 10.1016/S0092-8674(00)80260-3 9182765
46. S. Mundlos 1999 Cleidocranial dysplasia: clinical and molecular genetics J Med Genet 36 177 182 10204840
47. T. Nagata M.H. Werner 2001 Functional mutagenesis of AML1/RUNX1 and PEBP2 beta/CBF beta define distinct, non-overlapping sites for DNA recognition and heterodimerization by the Runt domain J Mol Biol 308 191 203 10.1006/jmbi.2001.4596 11327761 (Pubitemid 33043564)
48. D. Napierala X. Garcia-Rojas K. Sam, et al. 2005 Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation Mol Genet Metab 86 257 268 10.1016/j.ymgme.2005.07.012 16140555 (Pubitemid 41412183)
49. C.A. O'Brien B. Kern I. Gubrij, et al. 2002 Cbfa1 does not regulate RANKL gene activity in stromal/osteoblastic cells Bone 2 30 453 462 10.1016/S8756-3282(01)00692-5 (Pubitemid 34204119)
50. A. Ohazama J.M. Courtney P.T. Sharpe 2004 Opg, Rank, and Rankl in tooth development: co-ordination of odontogenesis and osteogenesis J Dent Res 83 241 244 10.1177/154405910408300311 14981127
51. F. Otto A.P. Thornell T. Crompton, et al. 1997 Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development Cell 89 765 771 10.1016/S0092-8674(00) 80259-7 9182764
52. M. Prince C. Banerjee A. Javed, et al. 2001 Expression and regulation of Runx2/Cbfa1 and osteoblast phenotypic markers during the growth and differentiation of human osteoblasts J Cell Biochem 80 424 440 10.1002/1097-4644(20010301)80:3<424::AID-JCB160>3.0.CO;2-6 11135373
53. I. Quack B. Vonderstrass M. Stock, et al. 1999 Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia Am J Hum Genet 65 1268 1278 10.1086/302622 10521292 (Pubitemid 30460377)
54. R. Shaikh S. Shusterman 1998 Delayed dental maturation in cleidocranial dysplasia ASDC J Dent Child 65 325 329 9795736
55. N.H. Smith 1968 A histologic study of cementum in a case of cleidocranial dysostosis Oral Surg Oral Med Oral Pathol 25 470 478 10.1016/0030-4220(68) 90023-6 5237481
56. T. Suzuki N. Suda K. Ohyama 2004 Osteoclastogenesis during mouse tooth germ development is mediated by receptor activator of NFKappa-B ligand (RANKL) J Bone Miner Metab 22 185 191 10.1007/s00774-003-0481-z 15108059 (Pubitemid 38660948)
57. K. Thirunavukkarasu D.L. Halladay R.R. Miles, et al. 2000 The osteoblastspecific transcription factor Cbfa1 contributes to the expression of osteoprotegerin, a potent inhibitor of osteoclast differentiation and function J Biol Chem 275 25163 25172 10.1074/jbc.M000322200 10833509 (Pubitemid 30687009)
58. V. Viereck H. Siggelkow S. Tauber, et al. 2002 Differential regulation of Cbfa1/Runx2 and osteocalcin gene expression by vitamin-D3, dexamethasone, and local growth factors in primary human osteoblasts J Cell Biochem 86 348 356 10.1002/jcb.10220 12112004 (Pubitemid 34743391)
59. A.J. Warren J. Bravo R.L. Williams, et al. 2000 Structural basis for the heterodimeric interaction between the acute leukaemia-associated transcription factors AML1 and CBFbeta EMBO J 19 3004 3015 10.1093/emboj/19.12.3004 10856244
60. G.E. Wise S. Frazier-Bowers R.N. D'souza 2002 Cellular, molecular, and genetic determinants of tooth eruption Crit Rev Oral Biol Med 13 323 334 10.1177/154411130201300403 12191959
61. Z. Xiao H.A. Awad S. Liu, et al. 2005 Selective Runx2-II deficiency leads to low-turnover osteopenia in adult mice Dev Biol 283 345 356 10.1016/j.ydbio.2005.04.028 15936013 (Pubitemid 40977954)
62. H. Yamamoto T. Sakae J.E. Davies 1989 Cleidocranial dysplasia: a light microscope, electron microscope, and crystallographic study Oral Surg Oral Med Oral Pathol 68 195 200 10.1016/0030-4220(89)90192-8 2780020
63. S. Yoda N. Suda Y. Kitahara, et al. 2004 Delayed tooth eruption and suppressed osteoclast number in the eruption pathway of heterozygous Runx2/Cbfa1 knockout mice Arch Oral Biol 49 435 442 10.1016/j.archoralbio.2004.01.010 15099800 (Pubitemid 38498070)
64. T. Yoshida H. Kanegane M. Osato, et al. 2002 Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations Am J Hum Genet 71 724 738 10.1086/342717 12196916
65. D. Zhang Y.Q. Yang X.T. Li, et al. 2004 The expression of osteoprotegerin and the receptor activator of nuclear factor kappa B ligand in human periodontal ligament cells cultured with and without 1alpha,25-dihydroxyvitamin D3 Arch Oral Biol 49 71 76 10.1016/S0003-9969(03)00201-2 14693199 (Pubitemid 38161742)
66. Y.W. Zhang N. Yasui K. Ito, et al. 2000 A RUNX2/PEBP2alpha A/CBFA1 mutation displaying impaired transactivation and Smad interaction in cleidocranial dysplasia Proc Natl Acad Sci U S A 97 10549 10554 10.1073/pnas.180309597 10962029
67. G. Zhou Y. Chen L. Zhou, et al. 1999 CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia Hum Mol Genet 8 2311 2316 10.1093/hmg/8.12.2311 10545612 (Pubitemid 29525347)
68. S.J. Zou R.N. D'souza T. Ahlberg, et al. 2003 Tooth eruption and cementum formation in the Runx2/Cbfa1 heterozygous mouse Arch Oral Biol 2 48 673 677 10.1016/S0003-9969(03)00135-3 (Pubitemid 36941279)
69. N.I. zur Nieden G. Kempka H.J. Ahr 2003 In vitro differentiation of embryonic stem cells into mineralized osteoblasts Differentiation 71 18 27 10.1046/j.1432-0436.2003.700602.x 12558600 (Pubitemid 38230416)