Decreased bone turnover and deterioration of bone structure in two cases of pycnodysostosis

Journal of Clinical Endocrinology and Metabolism

Volumn 89, Issue 4, 2004, Pages 1538-1547

  Fratzl Zelman, Nadja ^a   Valenta, Angelika ^a,b   Roschger, Paul ^a   Nader, Alexander ^a   Gelb, Bruce D ^c   Fratzl, Peter ^b,d   Klaushofer, Klaus ^a  

^a HANUSCH HOSPITAL   (Austria)

^b UNIVERSITY OF LEOBEN   (Austria)

^c MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^d MAX PLANCK INSTITUTE OF COLLOIDS AND INTERFACES   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CATHEPSIN B; COLLAGEN;

ADULT; BONE BIOPSY; BONE DEMINERALIZATION; BONE INJURY; BONE MATRIX; BONE REMODELING; BONE STRUCTURE; BONE TURNOVER; CARTILAGE; CASE REPORT; CELL NUCLEUS; CONFERENCE PAPER; DIGESTION; DISEASE SEVERITY; EVALUATION; FEMALE; FIBER; GENE MUTATION; GENETIC DISORDER; HUMAN; HUMAN TISSUE; IMAGING SYSTEM; MALE; MICROSCOPY; MORPHOMETRICS; OSSIFICATION; OSTEOCLAST; OSTEOSCLEROSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PYKNODYSOSTOSIS; QUANTITATIVE ANALYSIS; THICKNESS; TRABECULAR BONE; X RAY CRYSTALLOGRAPHY;

ADULT; BONE DENSITY; BONE MATRIX; BONE REMODELING; BONE RESORPTION; CARTILAGE; CATHEPSINS; CHILD, PRESCHOOL; DYSOSTOSES; FEMALE; HUMANS; ILIUM; MALE; MICROSCOPY, ELECTRON, SCANNING; MUTATION; OSTEOCLASTS; OSTEOSCLEROSIS; X-RAY DIFFRACTION;

EID: 1942441009     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2003-031055     Document Type: Conference Paper

References (37)

1. Kafienah W, Bromine D, Buttle DJ, Croucher LJ, Hollander AP 1998 Human cathepsin K cleaves native type I and II collagens at the N-terminal end of the triple helix. Biochem J 331:727-732
2. Garnero P, Borel O, Byrjalsen I, Ferreras M, Drake FH, McQueney MS, Foged NT, Delmas PD, Delaisse J 1998 The collagenolytic activity of cathepsin K is unique among mammalian proteinases. J Biol Chem 73:32347-32352
3. Saftig P, Hunziker E, Wehmeyer O, Jones S, Boyde A, Rommerskirch W, Moritz JD, Schu P, von Figura K 1998 Impaired osteoclastic bone resorption leads to osteopetrosis in cathepsin-K-deficient mice. Proc Natl Acad Sci USA 95:13453-13258
4. 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 1999 Cathepsin K knockout mice develop osteopetrosis due to a deficit in matrix degradation but not demineralization. J Bone Miner Res 14:1654-1663
5. 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 MJ 1997 Peptide aldehyde inhibitors of cathepsin K inhibit bone resorption both in vitro and in vivo. J Bone Miner Res 12:1396-406
6. Gelb BD, Shi GP, Chapman HA, Desnick RJ 1996 Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science 273:1236-1238
7. Hou WS, Bromine D, Zhao Y, Mehler E, Dushey C, Weinstein H, Miranda CS, Fraga C, Greig F, Carey J, Rimoin DL, Desnick RJ, Gelb BD 1999 Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis. J Clin Invest 103:31-38
8. Fujita Y, Nakata K, Yasui N, Matsui Y, Kataoka E, Hiroshima K, Shiba RI, Ochi T 2000 Novel mutations of the cathepsin K gene in patients with pycnodysostosis and their characterization. J Clin Endocrinol Metab 85:425-431
9. Everts V, Aronson DC, Beertsen W 1985 Phagocytosis of bone collagen by osteoclasts in two cases of pycnodysostosis. Calcif Tissue Int 37:25-31
10. Sassi ML, Eriksen H, Risteli L, Niemi S, Mansell J, Gowen M, Risteli J 2000 Immunochemical characterization of assay for carboxyterminal telopeptide of human type I collagen: loss of antigenicity by treatment with cathepsin K. Bone 26:367-373
11. Everts V, Delaissé JM, Korpel W, Jansen DC, Tigchelaar-Gutter W, Saftig P, Beertsen W 2002 The bone lining cell: its role in cleaning Howship's lacunae and initiating bone formation. J Bone Miner Res 17:77-90
12. Nishi Y, Atley L, Eyre DE, Edelson JG, Superti-Furga A, Yasuda T, Desnick RJ Gelb BD 1999 Determination of bone markers in pycnodysostosis: effects of cathepsin K deficiency on bone matrix degradation. J Bone Miner Res 14:1902-1908
13. Garnero P, Ferreras M, Karsdal MA, Nicamhlaoibh R, Ristelli J, Borel O, Qvist P, Delmas PD, Foged NT, Delaissé JM 2003 The Type I Collagen Fragments ICTP and CTX reveal distinct enzymatic pathways of bone collagen degradation. J Bone Miner Res 18:859-867
14. Kiviranta R, Morko J, Uusitalo H, Aro HT, Vuorio E, Rantakokko J 2001 Accelerated turnover of metaphyseal trabecular bone in mice overexpressing cathepsin K. J Bone Miner Res 16:1444-14452
15. Lark MW, Stroup GB, James IE, Dodds RA, Hwang SM, Blake SM, Lechowska BA, Hoffman SJ, Smith BR, Kapadla R, Liang X, Erhard K, Ru Y, Dong X, Marquis RW, Veber D, Gowen M 2002 A potent small molecule, nonpeptide inhibitor of cathepsin K (SB 331750) prevents bone matrix resorption in the ovariectomized rat. Bone 30:746-753
16. Glorieux FH, Travers R, Taylor A, Bowen JR, Rauch F, Norman M, Parfitt AM 2000 Normative data for iliac bone histomorphometry in growing children. Bone 26:103-109
17. Roschger P, Grabner BM, Rinnerthaler S, Tesch W, Kneissel M, Berzlanovich A, Klaushofer K, Fratzl P 2001 Structural development of the mineralized tissue in the human LA vertebral body. J Struct Biol 136:126-136
18. Gelb BD, Shi GP, Heller M, Weremowicz S, Morton C, Desnick RJ, Chapman HA 1997 Structure and chromosomal assignment of the human cathepsin K gene. Genomics 41:258-262
19. Gross UM, Strunz V 1977 Surface staining of sawed sections of undecalcifled bone containing alloplastic implants. Stain Technol 52:217-219
20. Parfitt MA, Drezner, MC Glorieux FH, Kanis JA, Malluche H, Meunier PJ, Ott SM, Recker R 1987 Bone histomorphometry: standardization of nomenclature, symbols and units. J Bone Miner Res 2:595-610
21. Roschger P, Plenk Jr H, Klaushofer K, Eschberger J 1995 A new scanning electron microscopy approach to the quantification of bone mineral distribution: backscattered electron image gray-levels correlated to calcium K α-line intensities. Scanning Microsc 9:75-88
22. Roschger P, Fratzl P, Eschberger J, Klaushofer K 1998 Validation of quantitative backscattered electron imaging for the measurement of mineral density distribution in human bone biopsies. Bone 23:23319-23126
23. Roschger P, Gupta HS, Berzlanovich A, Ittner G, Dempster DW, Fratzl P, Cosman F, Parisien M, Lindsay R, Nieves JW, Klaushofer K 2003 Constant mineralization density distribution in cancellous human bone. Bone 32:316-323
24. Reid SA, Boyde A 1987 Changes in the mineral density distribution in human bone with age: image analysis using backscattered electrons in the SEM. J Bone Miner Res 2:13-22
25. Boyde A, Jones SJ, Aerssens J, Dequeker J 1995 Mineral density quantitation of the human cortical iliac crest by backscattered electron image analysis: variations with age, sex, and degree of osteoarthritis. Bone 16:619-627
26. Zizak I, Roschger P, Paris O, Misof BM, Berzlanovich A, Bernstorff S, Amenitsch H, Klaushofer K, Fratzl P 2003 Characteristics of mineral particles in the human bone/cartilage interface. J Struct Biol 141:208-217
27. Fratzl P, Schreiber S, Klaushofer K 1996 Bone and mineralization as studied by small angle x-ray scattering. Conn Tissue Res 34:247-254
28. Rinnerthaler S, Roschger P, Jakob HF, Nader A, Klaushofer K, Fratzl P 1999 Scanning small angle x-ray scattering analysis of human bone sections. Calcif Tissue Int 64:422-429
29. Rauch F, Travers R, Parfitt AM, Glorieux FH 2000 Static and dynamic bone histomorphometry in children with osteogenesis imperfecta. Bone 26:581-589
30. Misof BM, Roschger P, Cosman F, Kurland ES, Tesch W, Messmer P, Dempster DW, Nieves J, Shane E, Fratzl P, Klaushofer K, Bilezikian J, Lindsay R 2003 Effects of intermittent parathyroid hormone administration on bone mineralization density in iliac crest biopsies from patients with osteoporosis: a paired study before and after treatment. J Clin Endocrinol Metab 1150-1156
31. Soriano P, Montgomery C, Geske R, Bradley A 1991 Targeted disruption of the c-src proto-oncogene leads to osteopetrosis in mice. Cell 22:693-702
32. Wang ZQ, Ovitt C, Grigoriadis AE, Mohle-Steinlein U, Ruther U, Wagner EF 1992 Bone and haematopoietic defects in mice lacking c-fos. Nature 360:741-745
33. Kong YY, Yoshida H, Sarosi I, Tan HL, Timms E, Capparelli C, Morony S, Oliveira-dos-Santos AJ, Van G, Itie A, Khoo W, Wakeham A, Dunstan CR, Lacey DL, Mak TW, Boyle WJ, Penninger JM 1999 OPGL is a key regulator of osteoclastogenesis, lymphocyte development and lymph-node organogenesis. Nature 397:315-323
34. Marzia M, Sims NA, Voit S, Migliaccio S, Taranta A, Bernardini S, Faraggiana T, Yoneda T, Mundy GR, Boyce BF, Baron R, Teti A 2000 Decreased c-Src expression enhances osteoblast differentiation and bone formation. J Cell Biol 16:311-320
35. Roschger P, Tesch W, Matsuo K, Jochum W, Wagner FJ, Fratzl P, Klaushof er K, Micro-and nanostructure of mineralized tissue in mice overexpressing the transcription factor FRA-1. 1st Joint Meeting of the International Bone and Mineral Society and the European Calcified Tissue Society, Madrid, Spain, 2001, p S147
36. Everts V, Hou WS, Rialland X, Tigchelaar W, Saftig P, Bromme D, Gelb BD, Beertsen W, Cathepsin K deficiency in pycnodysostosis results in accumulation of non-digested phagocyted collagen in fibroblasts. Calcif Tissue Int, in press
37. Wolff J 1870 Über die innere Architektur der Knochen und ihre Bedeutung für die Frage von Knochenwachstum. Arch Pathol Anat Physiol 50:389-450