Characterization of Osteoclasts from Patients Harboring a G215R Mutation in ClC-7 Causing Autosomal Dominant Osteopetrosis Type II

American Journal of Pathology

Volumn 164, Issue 5, 2004, Pages 1537-1545

  Henriksen, Kim ^a   Gram, Jeppe ^b   Schaller, Sophie ^a   Dahl, Bjarne H ^c   Dziegiel, Morten H ^d   Bollerslev, Jens ^e   Karsdal, Morten A ^a  

^a NORDIC BIOSCIENCE A S   (Denmark)

^b ESBJERG HOSPITAL   (Denmark)

^c NEUROSEARCH A S   (Denmark)

^d Mental Health Center Glostrup   (Denmark)

^e OSLO UNIVERSITY HOSPITAL   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

ACID PHOSPHATASE TARTRATE RESISTANT ISOENZYME; CATHEPSIN K; CD14 ANTIGEN; CHLORIDE CHANNEL; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATASE;

ALBERS SCHOENBERG DISEASE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE DISEASE; CICN7 GENE; CONTROLLED STUDY; GENE; GENE MUTATION; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; MISSENSE MUTATION; MONOCYTE; OSTEOCLAST; OSTEOLYSIS; PRIORITY JOURNAL; PROTON TRANSPORT;

EID: 1942533447     PISSN: 00029440     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9440(10)63712-1     Document Type: Article

References (42)

1. Baron R, Neff L, Louvard D, Courtoy PJ: Cell-mediated extracellular acidification and bone resorption: evidence for a low pH in resorbing lacunae and localization of a 100-kD lysosomal membrane protein at the osteoclast ruffled border. J Cell Biol 1985, 101:2210-2222
2. Blair HC, Teitelbaum SL, Ghiselli R, Gluck S: Osteoclastic bone resorption by a polarized vacuolar proton pump. Science 1989, 245:855-857
3. al Awqati Q: Chloride channels of intracellular organelles. Curr Opin Cell Biol 1995, 7:504-508
4. Dutzler R, Campbell EB, Cadene M, Chait BT, MacKinnon R: X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity. Nature 2002, 415:287-294
5. Jentsch TJ, Stein V, Weinreich F, Zdebik AA: Molecular structure and physiological function of chloride channels. Physiol Rev 2002, 82:503-568
6. Kornak U, Kasper D, Bosl MR, Kaiser E, Schweizer M, Schulz A, Friedrich W, Delling G, Jentsch TJ: Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. Cell 2001, 104:205-215
7. Karsdal MA, Schaller S, Henriksen K, Sveigaard S, Heegaard A, Christophersen P, Stahlhut M, Hélix M, Engsig MT, Foged N, Delaissé J: The chloride channel inhibitor NS3736 prevents bone resorption in ovariectomized rats, while preserving bone formation. J Bone Miner Res 2003, 18:M233A
8. Cleiren E, Benichou O, Van Hul E, Gram J, Bollerslev J, Singer FR, Beaverson K, Aledo A, Whyte MP, Yoneyama T, deVernejoul MC, Van Hul W: Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. Hum Mol Genet 2001, 10:2861-2867
9. Campos-Xavier AB, Saraiva JM, Ribeiro LM, Munnich A, Cormier-Daire V: Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis. Hum Genet 2003, 112:186-189
10. Grodum E, Gram J, Brixen K, Bollerslev J: Autosomal dominant osteopetrosis: bone mineral measurements of the entire skeleton of adults in two different subtypes. Bone 1995, 16:431-434
11. Bollerslev J, Grontved A, Andersen Jr PE: Autosomal dominant osteopetrosis: an otoneurological investigation of the two radiological types. Laryngoscope 1988, 98:411-413
12. Bollerslev J, Marks Jr SC, Pockwinse S, Kassem M, Brixen K, Steiniche T, Mosekilde L: Ultrastructural investigations of bone resorptive cells in two types of autosomal dominant osteopetrosis. Bone 1993, 14:865-869
13. Bollerslev J, Steiniche T, Melsen F, Mosekilde L: Structural and histomorphometric studies of iliac crest trabecular and cortical bone in autosomal dominant osteopetrosis: a study of two radiological types. Bone 1989, 10:19-24
14. Gram J, Antonsen S, Horder M, Bollerslev J: Elevated serum levels of creatine kinase BB in autosomal dominant osteopetrosis type II. Calcif Tissue Int 1991, 48:438-439
15. Waguespack SG, Hui SL, White KE, Buckwalter KA, Econs MJ: Measurement of tartrate-resistant acid phosphatase and the brain isoenzyme of creatine kinase accurately diagnoses type II autosomal dominant osteopetrosis but does not identify gene carriers. J Clin Endocrinol Metab 2002, 87:2212-2217
16. Semba I, Ishigami T, Sugihara K, Kitano M: Higher osteoclastic demineralization and highly mineralized cement lines with osteocalcin deposition in a mandibular cortical bone of autosomal dominant osteopetrosis type II: ultrastructural and undecalcified histological investigations. Bone 2000, 27:389-395
17. Brockstedt H, Bollerslev J, Melsen F, Mosekilde L: Cortical bone remodeling in autosomal dominant osteopetrosis: a study of two different phenotypes. Bone 1996, 18:67-72
18. Bollerslev J, Andersen Jr PE: Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis. Bone 1988, 9:7-13
19. Bollerslev J, Nielsen HK, Larsen HF, Mosekilde L: Biochemical evidence of disturbed bone metabolism and calcium homeostasis in two types of autosomal dominant osteopetrosis. Acta Med Scand 1988, 224:479-483
20. Benichou OD, Laredo JD, de Vernejoul MC: Type II autosomal dominant osteopetrosis (Albers-Schonberg disease): clinical and radiological manifestations in 42 patients. Bone 2000, 26:87-93
21. Andersen Jr PE, Bollerslev J: Heterogeneity of autosomal dominant osteopetrosis. Radiology 1987, 164:223-225
22. Karsdal MA, Hjorth P, Henriksen K, Kirkegaard T, Nielsen KL, Lou H, Delaisse JM, Foged NT: TGF-beta controls human osteoclastogenesis through the p38 MAP kinase and regulation of RANK expression. J Biol Chem 2003, 278:44975-44987
23. Sakai D, Tong HS, Minkin C: Osteoclast molecular phenotyping by random cDNA sequencing. Bone 1995, 17:111-119
24. Bollerslev J, Ueland T, Landaas S, Marks Jr SC: Serum creatine kinase isoenzyme BB in mammalian osteopetrosis. Clin Orthop 2000, Aug(377):241-247
25. Masuda R, Sakiyama H, Nonaka T, Kwan A, Nakagawa K, Moriya H, Imajoh-Ohmi S, Honjo M, Yoshida K: Establishment and characterization of tartrate-resistant acid phosphatase and alkaline phosphatase double positive cell lines. Cell Tissue Res 2001, 304:351-359
26. Sundquist K, Lakkakorpi P, Wallmark B, Vaananen K: Inhibition of osteoclast proton transport by bafilomycin A1 abolishes bone resorption. Biochem Biophys Res Commun 1990, 168:309-313
27. Bollerslev J: Autosomal dominant osteopetrosis: bone metabolism and epidemiological, clinical, and hormonal aspects. Endocr Rev 1989, 10:45-67
28. Waguespack SG, Koller DL, White KE, Fishburn T, Carn G, Buckwalter KA, Johnson M, Kocisko M, Evans WE, Foroud T, Econs MJ: Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II. J Bone Miner Res 2003, 18:1513-1518
29. Votta BJ, Levy MA, Badger A, Bradbeer J, Dodds RA, James IE, Thompson S, Bossard MJ, Carr T, Connor JR, Tomaszek TA, Szewczuk L, Drake FH, Veber DF, Gowen M: Peptide aldehyde inhibitors of cathepsin K inhibit bone resorption both in vitro and in vivo. J Bone Miner Res 1997, 12:1396-1406
30. Lark MW, Stroup GB, James IE, Dodds RA, Hwang SM, Blake SM, Lechowska BA, Hoffman SJ, Smith BR, Kapadia R, Liang X, Erhard K, Ru Y, Dong X, Marquis RW, Veber D, Gowen M: A potent small molecule, nonpeptide inhibitor of cathepsin K (SB 331750) prevents bone matrix resorption in the ovariectomized rat. Bone 2002, 30:746-753
31. Everts V, Korper W, Jansen DC, Steinfort J, Lammerse I, Heera S, Docherty AJ, Beertsen W: Functional heterogeneity of osteoclasts: matrix metalloproteinases participate in osteoclastic resorption of calvarial bone but not in resorption of long bone. EMBO J 1999, 13:1219-1230
32. Whyte MP, Chines A, Silva Jr DP, Landt Y, Ladenson JH: Creatine kinase brain isoenzyme (BB-CK) presence in serum distinguishes osteopetroses among the sclerosing bone disorders. J Bone Miner Res 1996, 11:1438-1443
33. Baron R, Neff L, Louvard D, Courtoy PJ: Cell-mediated extracellular acidification and bone resorption: evidence for a low pH in resorbing lacunae and localization of a 100-kD lysosomal membrane protein at the osteoclast ruffled border. J Cell Biol 1985, 101:2210-2222
34. Takacs I, Cooper H, Weaver DD, Econs MJ: Bone mineral density and laboratory evaluation of a type II autosomal dominant osteopetrosis carrier. Am J Med Genet 1999, 85:9-12
35. Lees RL, Sabharwal VK, Heersche JN: Resorptive state and cell size influence intracellular pH regulation in rabbit osteoclasts cultured on collagen-hydroxyapatite films. Bone 2001, 28:187-194
36. Manolson MF, Yu H, Chen W, Yao Y, Li K, Lees RL, Heersche JN: The a3 isoform of the 100 kDa V-ATPase subunit is highly but differentially expressed in large (> 10 nuclei) and small (< 5 nuclei) osteoclasts. J Biol Chem 2003, 278:49271-49278
37. Blair H, Kalla S, Saito M, Orchard P, Schlesinger PH: Two chloride channel genes required for human osteoclasts: CLIC-5 defects suppress early differentiation and vacuolar acidification; ClC-7 defects restrict lacunar resorption, but permit expression of osteoclast markers. J Bone Miner Res 2003, 18:SA260A
38. Li YP, Chen W, Liang Y, Li E, Stashenko P: Atp6i-deficient mice exhibit severe osteopetrosis due to loss of osteoclast-mediated extracellular acidification. Nat Genet 1999, 23:447-451
39. Delaisse JM, Andersen TL, Engsig MT, Henriksen K, Troen T, Blavier L: Matrix metalloproteinases (MMP) and cathepsin K contribute differently to osteoclastic activities. Microsc Res Tech 2003, 61:504-513
40. Gowen M, Lazner F, Dodds R, Kapadia R, Feild J, Tavaria M, Bertoncello I, Drake F, Zavarselk S, Tellis I, Hertzog P, Debouck C, Kola I: Cathepsin K knockout mice develop osteopetrosis due to a deficit in matrix degradation but not demineralization. J Bone Miner Res 1999, 14:1654-1663
41. Taranta A, Migliaccio S, Recchia I, Caniglia M, Luciani M, De Rossi G, Dionisi-Vici C, Pinto RM, Francalanci P, Boldrini R, Lanino E, Dini G, Morreale G, Ralston SH, Villa A, Vezzoni P, Del Principe D, Cassiani F, Palumbo G, Teti A: Genotype-phenotype relationship in human ATP6i-dependent autosomal recessive osteopetrosis. Am J Pathol 2003, 162:57-68
42. Visentin L, Dodds RA, Valente M, Misiano P, Bradbeer JN, Oneta S, Liang X, Gowen M, Farina C: A selective inhibitor of the osteoclastic V-H(+)-ATPase prevents bone loss in both thyroparathyroidectomized and ovariectomized rats. J Clin Invest 2000, 106:309-318