The F508del mutation in cystic fibrosis transmembrane conductance regulator gene impacts bone formation

American Journal of Pathology

Volumn 180, Issue 5, 2012, Pages 2068-2075

  Le Henaff, Carole ^a   Gimenez, Annelise ^a   Ha, Eric ^b   Marty, Caroline ^b   Marie, Pierre ^b   Jacquot, Jacky ^a  

^a UNIVERSITÉ DE REIMS CHAMPAGNE ARDENNE   (France)

^b INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

OSTEOCALCIN; SOMATOMEDIN C; TRANSMEMBRANE CONDUCTANCE REGULATOR;

AGE; ARTICLE; BODY WEIGHT; BONE DENSITOMETRY; BONE DENSITY; BONE MASS; BONE STRUCTURE; COMPARATIVE STUDY; CONTROLLED STUDY; EVALUATION; F508DEL MUTATION; FEMALE; FEMUR; GENE MUTATION; HOMOZYGOSITY; MALE; MICRO-COMPUTED TOMOGRAPHY; MORPHOMETRICS; MOUSE; NONHUMAN; OSSIFICATION; OSTEOPENIA; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; TRABECULAR BONE;

AGING; ANIMALS; BASE SEQUENCE; BONE DENSITY; BONE DISEASES, METABOLIC; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; FEMUR; MALE; MICE; MICE, INBRED CFTR; OSTEOGENESIS; SEQUENCE DELETION;

EID: 84860237323     PISSN: 00029440     EISSN: 15252191     Source Type: Journal    
DOI: 10.1016/j.ajpath.2012.01.039     Document Type: Article

References (44)

1. P.B. Davis Cystic fibrosis since 1938 Am J Respir Crit Care Med 173 2006 475 482
2. B. Kerem, J.M. Rommens, J.A. Buchanan, D. Markiewicz, T.K. Cox, A. Chakravarti, M. Buchwald, L.C. Tsui Identification of the cystic fibrosis gene: genetic analysis Science 245 1989 1073 1080
3. J.R. Riordan CFTR function and prospects for therapy Annu Rev Biochem 77 2008 701 726
4. R.M. Aris, P.A. Merkel, L.K. Bachrach, D.S. Borowitz, M.P. Boyle, S.L. Elkin, T.A. Guise, D.S. Hardin, C.S. Haworth, M.F. Holick, P.M. Joseph, K. O'Brien, E. Tullis, N.B. Watts, T.B. White Guide to bone health and disease in cystic fibrosis J Clin Endocrinol Metab 90 2005 1888 1896
5. C.S. Haworth Impact of cystic fibrosis on bone health Curr Opin Pulm Med 16 2010 616 622
6. M.L. Bianchi, G. Romano, S. Saraifoger, D. Costantini, C. Limonta, C. Colombo BMD and body composition in children and young patients affected by cystic fibrosis J Bone Miner Res 21 2006 388 396
7. A.P. Gore, S.H. Kwon, A.E. Stenbit A roadmap to the brittle bones of cystic fibrosis J Osteoporos 2011 2010 926045
8. I. Sermet-Gaudelus, M.L. Bianchi, M. Garabedian, R.M. Aris, A. Morton, D.S. Hardin, S.L. Elkin, J.E. Compston, S.P. Conway, M. Castanet, S. Wolfe, C.S. Haworth European cystic fibrosis bone mineralisation guidelines J Cyst Fibros 10 Suppl 2 2011 S16 S23
9. J. Paccou, N. Zeboulon, C. Combescure, L. Gossec, B. Cortet The prevalence of osteoporosis, osteopenia, and fractures among adults with cystic fibrosis: a systematic literature review with meta-analysis Calcif Tissue Int 86 2010 1 7
10. R.M. Javier, J. Jacquot Bone disease in cystic fibrosis: what's new Joint Bone Spine 78 2011 445 450
11. I. Sermet-Gaudelus, M. Castanet, G. Retsch-Bogart, R.M. Aris Update on cystic fibrosis-related bone disease: a special focus on children Paediatr Respir Rev 10 2009 134 142
12. A.A. Ionescu, L.S. Nixon, W.D. Evans, M.D. Stone, V. Lewis-Jenkins, K. Chatham, D.J. Shale Bone density, body composition, and inflammatory status in cystic fibrosis Am J Respir Crit Care Med 162 2000 789 794
13. A.A. Sparks, S.J. McGee, C.E. Boone, I.P. Neuringer, S.K. Jones, R.M. Aris 'Old' bones in young bodies: the tale of cystic fibrosis Curr Opin Endocrinol Diabetes Obes 16 2009 407 414
14. M.L. Bianchi Osteoporosis in children and adolescents Bone 41 2007 486 495
15. I. Sermet-Gaudelus, J.C. Souberbielle, J.C. Ruiz, S. Vrielynck, B. Heuillon, I. Azhar, A. Cazenave, E. Lawson-Body, F. Chedevergne, G. Lenoir Low bone mineral density in young children with cystic fibrosis Am J Respir Crit Care Med 175 2007 951 957
16. C.K. Haston, W. Li, A. Li, M. Lafleur, J.E. Henderson Persistent osteopenia in adult cystic fibrosis transmembrane conductance regulator-deficient mice Am J Respir Crit Care Med 177 2008 309 315
17. F. Dif, C. Marty, C. Baudoin, M.C. de Vernejoul, G. Levi Severe osteopenia in CFTR-null mice Bone 35 2004 595 603
18. T.D. Pashuck, S.E. Franz, M.K. Altman, C.H. Wasserfall, M.A. Atkinson, T.J. Wronski, T.R. Flotte, M.S. Stalvey Murine model for cystic fibrosis bone disease demonstrates osteopenia and sex-related differences in bone formation Pediatr Res 65 2009 311 316
19. E.F. Shead, C.S. Haworth, A.M. Condliffe, D.J. McKeon, M.A. Scott, J.E. Compston Cystic fibrosis transmembrane conductance regulator (CFTR) is expressed in human bone Thorax 62 2007 650 651
20. L. Le Heron, C. Guillaume, F. Velard, J. Braux, L. Touqui, S. Moriceau, I. Sermet-Gaudelus, D. Laurent-Maquin, J. Jacquot Cystic fibrosis transmembrane conductance regulator (CFTR) regulates the production of osteoprotegerin (OPG) and prostaglandin (PG) E(2) in human bone J Cyst Fibros 9 2010 69 72
21. A. Gimenez, C. Le Henaff, C. Norez, C. Guillaume, B. Ravoninjatovo, D. Laurent-Maquin, F. Becq, J. Jacquot Deficit of osteoprotegerin release by osteoblasts from a patient with cystic fibrosis Eur Respir J 39 2012 780 781
22. S.J. King, D.J. Topliss, T. Kotsimbos, I.B. Nyulasi, M. Bailey, P.R. Ebeling, J.W. Wilson Reduced bone density in cystic fibrosis: deltaF508 mutation is an independent risk factor Eur Respir J 25 2005 54 61
23. J.H. van Doorninck, P.J. French, E. Verbeek, R.H. Peters, H. Morreau, J. Bijman, B.J. Scholte A mouse model for the cystic fibrosis delta F508 mutation EMBO J 14 1995 4403 4411
24. E. Bonvin, P. Le Rouzic, J.F. Bernaudin, C.H. Cottart, C. Vandebrouck, A. Crie, T. Leal, A. Clement, M. Bonora Congenital tracheal malformation in cystic fibrosis transmembrane conductance regulator-deficient mice J Physiol 586 2008 3231 3243
25. S.V. Dorozhkin, M. Epple Biological and medical significance of calcium phosphates Angew Chem Int Ed Engl 41 2002 3130 3146
26. R. Drevet, F. Velard, S. Potiron, D. Laurent-Maquin, H. Benhayoune In vitro dissolution and corrosion study of calcium phosphate coatings elaborated by pulsed electrodeposition current on Ti6Al4V substrate J Mater Sci Mater Med 22 2011 753 761
27. A.M. Parfitt, M.K. Drezner, F.H. Glorieux, J.A. Kanis, H. Malluche, P.J. Meunier, S.M. Ott, R.R. Recker Bone histomorphometry: standardization of nomenclature, symbols, and units Report of the ASBMR Histomorphometry Nomenclature Committee J Bone Miner Res 2 1987 595 610
28. A. Vignery, R. Baron Dynamic histomorphometry of alveolar bone remodeling in the adult rat Anat Rec 196 1980 191 200
29. J. Paradis, M. Wilke, C.K. Haston Osteopenia in Cftr-deltaF508 mice J Cyst Fibros 9 2010 239 245
30. C.S. Haworth, P.L. Selby, A.K. Webb, M.E. Dodd, H. Musson, L.N.R. Mc, G. Economou, A.W. Horrocks, A.J. Freemont, E.B. Mawer, J.E. Adams Low bone mineral density in adults with cystic fibrosis Thorax 54 1999 961 967
31. S.L. Elkin, S. Vedi, S. Bord, N.J. Garrahan, M.E. Hodson, J.E. Compston Histomorphometric analysis of bone biopsies from the iliac crest of adults with cystic fibrosis Am J Respir Crit Care Med 166 2002 1470 1474
32. C.S. Haworth, A.J. Freemont, A.K. Webb, M.E. Dodd, P.L. Selby, E.B. Mawer, J.E. Adams Hip fracture and bone histomorphometry in a young adult with cystic fibrosis Eur Respir J 14 1999 478 479
33. V. Grey, S. Atkinson, D. Drury, L. Casey, G. Ferland, C. Gundberg, L.C. Lands Prevalence of low bone mass and deficiencies of vitamins D and K in pediatric patients with cystic fibrosis from 3 Canadian centers Pediatrics 122 2008 1014 1020
34. R.M. Aris, A.R. Stephens, D.A. Ontjes, A. Denene Blackwood, R.K. Lark, M.B. Hensler, I.P. Neuringer, G.E. Lester Adverse alterations in bone metabolism are associated with lung infection in adults with cystic fibrosis Am J Respir Crit Care Med 162 2000 1674 1678
35. E.F. Shead, C.S. Haworth, H. Barker, D. Bilton, J.E. Compston Osteoclast function, bone turnover and inflammatory cytokines during infective exacerbations of cystic fibrosis J Cyst Fibros 9 2010 93 98
36. M. Wilke, R.M. Buijs-Offerman, J. Aarbiou, W.H. Colledge, D.N. Sheppard, L. Touqui, A. Bot, H. Jorna, H.R. de Jonge, B.J. Scholte Mouse models of cystic fibrosis: phenotypic analysis and research applications J Cyst Fibros 10 Suppl 2 2011 S152 S171
37. S. Yakar, C.J. Rosen, W.G. Beamer, C.L. Ackert-Bicknell, Y. Wu, J.L. Liu, G.T. Ooi, J. Setser, J. Frystyk, Y.R. Boisclair, D. LeRoith Circulating levels of IGF-1 directly regulate bone growth and density J Clin Invest 110 2002 771 781
38. F. Festini, G. Taccetti, T. Repetto, M.F. Reali, S. Campana, G. Mergni, L. Marianelli, M. de Martino Gestational and neonatal characteristics of children with cystic fibrosis: a cohort study J Pediatr 147 2005 316 320
39. M. Switzer, J. Rice, M. Rice, D.S. Hardin Insulin-like growth factor-I levels predict weight, height and protein catabolism in children and adolescents with cystic fibrosis J Pediatr Endocrinol Metab 22 2009 417 424
40. M.P. Rogan, L.R. Reznikov, A.A. Pezzulo, N.D. Gansemer, M. Samuel, R.S. Prather, J. Zabner, D.C. Fredericks, P.B. McCray Jr, M.J. Welsh, D.A. Stoltz Pigs and humans with cystic fibrosis have reduced insulin-like growth factor 1 (IGF1) levels at birth Proc Natl Acad Sci U S A 107 2010 20571 20575
41. L.A. Rosenberg, M.D. Schluchter, A.F. Parlow, M.L. Drumm Mouse as a model of growth retardation in cystic fibrosis Pediatr Res 59 2006 191 195
42. C.M. Gordon, E. Binello, M.S. LeBoff, M.E. Wohl, C.J. Rosen, A.A. Colin Relationship between insulin-like growth factor I, dehydroepiandrosterone sulfate and proresorptive cytokines and bone density in cystic fibrosis Osteoporos Int 17 2006 783 790
43. C.S. Haworth, A.M. Jones, J.E. Adams, P.L. Selby, A.K. Webb Randomised double blind placebo controlled trial investigating the effect of calcium and vitamin D supplementation on bone mineral density and bone metabolism in adult patients with cystic fibrosis J Cyst Fibros 3 2004 233 236
44. L.S. Hillman, J.T. Cassidy, M.F. Popescu, J.E. Hewett, J. Kyger, J.D. Robertson Percent true calcium absorption, mineral metabolism, and bone mineralization in children with cystic fibrosis: effect of supplementation with vitamin D and calcium Pediatr Pulmonol 43 2008 772 780