Osteoclasts in neurofibromatosis type 1 display enhanced resorption capacity, aberrant morphology, and resistance to serum deprivation

Bone

Volumn 47, Issue 3, 2010, Pages 583-590

  Heervä, Eetu ^a   Alanne, Maria H ^a   Peltonen, Sirkku ^b   Kuorilehto, Tommi ^c   Hentunen, Teuvo ^a   Väänänen, Kalervo ^a   Peltonen, Juha ^a  

^a UNIVERSITY OF TURKU   (Finland)

^b TURKU UNIVERSITY HOSPITAL   (Finland)

^c TAMPERE UNIVERSITY HOSPITAL   (Finland)

Author keywords

Bone cyst; Bone turnover marker; CTX; Fibrocystic lesion; Lytic lesion

Indexed keywords

ADULT; ARTICLE; CELL COUNT; CELL DIFFERENTIATION; CELL ISOLATION; CELL SIZE; CELL STRUCTURE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VITRO STUDY; MALE; NEUROFIBROMATOSIS; NUCLEAR SHAPE; OSTEOCLAST; OSTEOLYSIS; PATHOGENESIS; SERUM;

ADOLESCENT; ADULT; ANIMALS; BONE RESORPTION; CATTLE; CELL SHAPE; CELLS, CULTURED; CULTURE MEDIA, SERUM-FREE; FEMALE; HUMANS; MACROPHAGE COLONY-STIMULATING FACTOR; MALE; MIDDLE AGED; NEUROFIBROMATOSIS 1; OSTEOCLASTS; RANK LIGAND; SERUM; STEM CELLS; YOUNG ADULT;

EID: 77955842145     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2010.06.001     Document Type: Article

References (50)

1. Riccardi V.M., Eichner J.E. Neurofibromatosis: Phenotype, Natural History and Pathogenesis 1986, Johns Hopkins University Press, Baltimore.
2. Huson S.M. The neurofibromatoses: classification, clinical features and genetic councelling. Monogr Hum Genet, Neurofibromatoses 2008, 16:1-20. Karger, Basel, Switzerland. D. Kaufmann (Ed.).
3. Lammert M., Friedman J., Kluwe L., Mautner V. Prevalence of neurofibromatosis 1 in German children at elementary school enrollment. Arch Dermatol 2005, 141:71-74.
4. National Institutes of Health Consensus Development Conference Statement: neurofibromatosis. Bethesda, Md., USA, July 13-15, 1987. Neurofibromatosis 1988, 1:172-178.
5. Cawthon R., Weiss R., Xu G., Viskochil D., Culver M., Stevens J., Robertson M., Dunn D., Gesteland R., O'Connell P. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell 1990, 62:193-201.
6. Xu G., O'Connell P., Viskochil D., Cawthon R., Robertson M., Culver M., Dunn D., Stevens J., Gesteland R., White R. The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell 1990, 62:599-608.
7. Marchuk D., Saulino A., Tavakkol R., Swaroop M., Wallace M., Andersen L., Mitchell A., Gutmann D., Boguski M., Collins F. cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product. Genomics 1991, 11:931-940.
8. Elefteriou F., Kolanczyk M., Schindeler A., Viskochil D., Hock J., Schorry E., Crawford A., Friedman J., Little D., Peltonen J., Carey J., Feldman D., Yu X., Armstrong L., Birch P., Kendler D., Mundlos S., Yang F., Agiostratidou G., Hunter-Schaedle K., Stevenson D. Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options. Am J Med Genet A 2009, 149A:2327-2338.
9. Crawford A.J., Bagamery N. Osseous manifestations of neurofibromatosis in childhood. J Pediatr Orthop 1986, 6:72-88.
10. Kuorilehto T., Pöyhönen M., Bloigu R., Heikkinen J., Väänänen K., Peltonen J. Decreased bone mineral density and content in neurofibromatosis type 1: lowest local values are located in the load-carrying parts of the body. Osteoporos Int 2005, 16:928-936.
11. Lammert M., Kappler M., Mautner V., Lammert K., Störkel S., Friedman J., Atkins D. Decreased bone mineral density in patients with neurofibromatosis 1. Osteoporos Int 2005, 16:1161-1166.
12. Kim H., Weinstein S. Spine update. The management of scoliosis in neurofibromatosis. Spine 1997, 22:2770-2776.
13. Crawford A., Parikh S., Schorry E., Von Stein D. The immature spine in type-1 neurofibromatosis. J Bone Joint Surg Am 2007, 89(Suppl 1):123-142.
14. Friedman J., Birch P. Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1, 728 patients. Am J Med Genet 1997, 70:138-143.
15. Young H., Hyman S., North K. Neurofibromatosis 1: clinical review and exceptions to the rules. J Child Neurol 2002, 17:613-621. discussion 627-9, 646-51.
16. Stevenson D., Schwarz E., Viskochil D., Moyer-Mileur L., Murray M., Firth S., D'Astous J., Carey J., Pasquali M. Evidence of increased bone resorption in neurofibromatosis type 1 using urinary pyridinium crosslink analysis. Pediatr Res 2008, 63:697-701.
17. Visnapuu V., Peltonen S., Ellilä T., Kerosuo E., Väänänen K., Happonen R., Peltonen J. Periapical cemental dysplasia is common in women with NF1. Eur J Med Genet 2007, 50:274-280.
18. Mandell G., Dalinka M., Coleman B. Fibrous lesions in the lower extremities in neurofibromatosis. AJR Am J Roentgenol 1979, 133:1135-1138.
19. Kuorilehto T., Nissinen M., Koivunen J., Benson M., Peltonen J. NF1 tumor suppressor protein and mRNA in skeletal tissues of developing and adult normal mouse and NF1-deficient embryos. J Bone Miner Res 2004, 19:983-989.
20. Kuorilehto T., Ekholm E., Nissinen M., Hietaniemi K., Hiltunen A., Paavolainen P., Penttinen R., Peltonen J. NF1 gene expression in mouse fracture healing and in experimental rat pseudarthrosis. J Histochem Cytochem 2006, 54:363-370.
21. Kolanczyk M., Kühnisch J., Kossler N., Osswald M., Stumpp S., Thurisch B., Kornak U., Mundlos S. Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin. BMC Med 2008, 6:21.
22. Schindeler A., Little D. Recent insights into bone development, homeostasis, and repair in type 1 neurofibromatosis (NF1). Bone 2008, 42:616-622.
23. Leskelä H., Kuorilehto T., Risteli J., Koivunen J., Nissinen M., Peltonen S., Kinnunen P., Messiaen L., Lehenkari P., Peltonen J. Congenital pseudarthrosis of neurofibromatosis type 1: impaired osteoblast differentiation and function and altered NF1 gene expression. Bone 2009, 44:243-250.
24. Yang F., Chen S., Robling A., Yu X., Nebesio T., Yan J., Morgan T., Li X., Yuan J., Hock J., Ingram D., Clapp D. Hyperactivation of p21ras and PI3K cooperate to alter murine and human neurofibromatosis type 1-haploinsufficient osteoclast functions. J Clin Invest 2006, 116:2880-2891.
25. Yu X., Chen S., Potter O., Murthy S., Li J., Pulcini J., Ohashi N., Winata T., Everett E., Ingram D., Clapp W., Hock J. Neurofibromin and its inactivation of Ras are prerequisites for osteoblast functioning. Bone 2005, 36:793-802.
26. Wu X., Estwick S., Chen S., Yu M., Ming W., Nebesio T., Li Y., Yuan J., Kapur R., Ingram D., Yoder M., Yang F. Neurofibromin plays a critical role in modulating osteoblast differentiation of mesenchymal stem/progenitor cells. Hum Mol Genet 2006, 15:2837-2845.
27. Kolanczyk M., Kossler N., Kühnisch J., Lavitas L., Stricker S., Wilkening U., Manjubala I., Fratzl P., Spörle R., Herrmann B., Parada L., Kornak U., Mundlos S. Multiple roles for neurofibromin in skeletal development and growth. Hum Mol Genet 2007, 16:874-886.
28. Sun Y., Büki K., Ettala O., Vääräniemi J., Väänänen H. Possible role of direct Rac1-Rab7 interaction in ruffled border formation of osteoclasts. J Biol Chem 2005, 280:32356-32361.
29. Yan J., Chen S., Zhang Y., Li X., Li Y., Wu X., Yuan J., Robling A., Kapur R., Karpur R., Chan R., Yang F. Rac1 mediates the osteoclast gains-in-function induced by haploinsufficiency of Nf1. Hum Mol Genet 2008, 17:936-948.
30. Kahn A., Simmons D. Investigation of cell lineage in bone using a chimaera of chick and quial embryonic tissue. Nature 1975, 258:325-327.
31. Walker D. Control of bone resorption by hematopoietic tissue. The induction and reversal of congenital osteopetrosis in mice through use of bone marrow and splenic transplants. J Exp Med 1975, 142:651-663.
32. Scheven B., Visser J., Nijweide P. In vitro osteoclast generation from different bone marrow fractions, including a highly enriched haematopoietic stem cell population. Nature 1986, 321:79-81.
33. Massey H., Flanagan A. Human osteoclasts derive from CD14-positive monocytes. Br J Haematol 1999, 106:167-170.
34. Lacey D., Timms E., Tan H., Kelley M., Dunstan C., Burgess T., Elliott R., Colombero A., Elliott G., Scully S., Hsu H., Sullivan J., Hawkins N., Davy E., Capparelli C., Eli A., Qian Y., Kaufman S., Sarosi I., Shalhoub V., Senaldi G., Guo J., Delaney J., Boyle W. Osteoprotegerin ligand is a cytokine that regulates osteoclast differentiation and activation. Cell 1998, 93:165-176.
35. Yoshida H., Hayashi S., Kunisada T., Ogawa M., Nishikawa S., Okamura H., Sudo T., Shultz L. The murine mutation osteopetrosis is in the coding region of the macrophage colony stimulating factor gene. Nature 1990, 345:442-444.
36. Teitelbaum S. Osteoclasts; culprits in inflammatory osteolysis. Arthritis Res Ther 2006, 8:201.
37. Mulari M., Zhao H., Lakkakorpi P., Väänänen H. Osteoclast ruffled border has distinct subdomains for secretion and degraded matrix uptake. Traffic 2003, 4:113-125.
38. Lakkakorpi P., Väänänen H. Kinetics of the osteoclast cytoskeleton during the resorption cycle in vitro. J Bone Miner Res 1991, 6:817-826.
39. Kuorilehto T., Kinnunen P., Nissinen M., Alanne M., Leskelä H., Lehenkari P., Peltonen J. Vasculopathy in two cases of NF1-related congenital pseudarthrosis. Pathol Res Pract 2006, 202:687-690.
40. Bradley E., Oursler M. Osteoclast culture and resorption assays. Meth Mol Biol 2008, 455:19-35.
41. Christgau S., Rosenquist C., Alexandersen P., Bjarnason N., Ravn P., Fledelius C., Herling C., Qvist P., Christiansen C. Clinical evaluation of the Serum CrossLaps One Step ELISA, a new assay measuring the serum concentration of bone-derived degradation products of type I collagen C-telopeptides. Clin Chem 1998, 44:2290-2300.
42. Selander K., Lehenkari P., Väänänen H. The effects of bisphosphonates on the resorption cycle of isolated osteoclasts. Calcif Tissue Int 1994, 55:368-375.
43. Shalhoub V., Elliott G., Chiu L., Manoukian R., Kelley M., Hawkins N., Davy E., Shimamoto G., Beck J., Kaufman S., Van G., Scully S., Qi M., Grisanti M., Dunstan C., Boyle W., Lacey D. Characterization of osteoclast precursors in human blood. Br J Haematol 2000, 111:501-512.
44. Lee M., Kim H., Yeon J., Choi S., Chun C., Kwak H., Oh J. GM-CSF regulates fusion of mononuclear osteoclasts into bone-resorbing osteoclasts by activating the Ras/ERK pathway. J Immunol 2009, 183:3390-3399.
45. Tiedemann K., Hussein O., Sadvakassova G., Guo Y., Siegel P., Komarova S. Breast cancer-derived factors stimulate osteoclastogenesis through the Ca2+/protein kinase C and transforming growth factor-beta/MAPK signaling pathways. J Biol Chem 2009, 284:33662-33670.
46. Shapira S., Barkan B., Friedman E., Fridman E., Kloog Y., Stein R. The tumor suppressor neurofibromin confers sensitivity to apoptosis by Ras-dependent and Ras-independent pathways. Cell Death Differ 2007, 14:895-906.
47. Adjei A. Blocking oncogenic Ras signaling for cancer therapy. J Natl Cancer Inst 2001, 93:1062-1074.
48. Koivunen J., Ylä-Outinen H., Korkiamäki T., Karvonen S., Pöyhönen M., Laato M., Karvonen J., Peltonen S., Peltonen J. New function for NF1 tumor suppressor. J Invest Dermatol 2000, 114:473-479.
49. Peltonen J., Aho H., Rinne U., Penttinen R. Neurofibromatosis tumor and skin cells in culture. Acta Neuropathol 1983, 61:275-282.
50. Ishida O., Jimbow K. A computed image analyzing system for quantitation of melanocyte morphology in café-au-lait macules of neurofibromatosis. J Invest Dermatol 1987, 88:287-291.