Osteopetrosis and its relevance for the discovery of new functions associated with the skeleton

International Journal of Endocrinology

Volumn 2015, Issue , 2015, Pages

  Coudert, Amélie E ^a   De Vernejoul, Marie Christine ^b   Muraca, Maurizio ^c   Del Fattore, Andrea ^c  

^a INSERM   (France)

^b HÔPITAL LARIBOISIÈRE   (France)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADIPOSE TISSUE; ALBERS SCHOENBERG DISEASE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE OSTEOPETROSIS; BONE MARROW; BONE MATRIX; CELL DIFFERENTIATION; CLINICAL FEATURE; CONGENITAL BONE DISEASE; DISEASE ASSOCIATION; GENE; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; IMMUNE SYSTEM; INSULIN METABOLISM; INTERMEDIATE RECESSIVE OSTEOPETROSIS; MALE FERTILITY; OSTEOCLAST; PRIORITY JOURNAL; REVIEW; TCIRG1 GENE; TNFSF11 GENE;

EID: 84926363018     PISSN: 16878337     EISSN: 16878345     Source Type: Journal    
DOI: 10.1155/2015/372156     Document Type: Review

References (60)

1. A. Del Fattore, A. Teti, and N. Rucci, "Bone cells and the mechanisms of bone remodelling", Frontiers in Bioscience, vol. 4, no. 6, pp. 2302-2321, 2012.
2. H. E. Albers-Schönberg, "Röntgenbilder einer seltenen Knockenerkrankung", M ünchener Medizinische Wochenschrif, vol. 5, pp. 365-368, 1904.
3. C. Sobacchi, A. Schulz, F. P. Coxon, A. Villa, and M. H. Helfrich, "Osteopetrosis: genetics, treatment and new insights into osteoclast function", Nature Reviews Endocrinology, vol. 9, no. 9, pp. 522-536, 2013.
4. Z. Stark and R. Savarirayan, "Osteopetrosis", Orphanet Journal of Rare Diseases, vol. 4, no. 1, article 5, 2009.
5. M. H. Helfrich, "Osteoclast diseases", Microscopy Research and The chnique, vol. 61, no. 6, pp. 514-532, 2003.
6. M. C. De Vernejoul and O. Bénichou, "Human osteopetrosis and other sclerosing disorders: recent genetic developments", Calcified Tissue International, vol. 69, no. 1, pp. 1-6, 2001.
7. M.-C. De Vernejoul and U. Kornak, "Heritable sclerosing bone disorders: presentation and new molecular mechanisms", Annals of the New York Academy of Sciences, vol. 1192, pp. 269-277, 2010.
8. J. F. Charles and A. O. Aliprantis, "Osteoclasts: more than 'bone eaters'", Trends in Molecular Medicine, vol. 20, no. 8, pp. 449-459, 2014.
9. A. R. Guntur and C. J. Rosen, "Bone as an endocrine organ", Endocrine Practice, vol. 18, no. 5, pp. 758-762, 2012.
10. D. J. Di Girolamo, T. L. Clemens, and S. Kousteni, "The skeleton as an endocrine organ", Nature Reviews Rheumatology, vol. 8, no. 11, pp. 674-683, 2012.
11. K. Henriksen, J. Bollerslev, V. Everts, and M. A. Karsdal, "Osteoclast activity and subtypes as a function of physiology and pathology-implications for future treatments of osteoporosis", Endocrine Reviews, vol. 32, no. 1, pp. 31-63, 2011.
12. V. Everts, W. Korper, K. A. Hoeben et al., "Osteoclastic bone degradation and the role of different cysteine proteinases and matrix metalloproteinases: diferences between calvaria and long bone", Journal of Bone and Mineral Research, vol. 21, no. 9, pp. 1399-1408, 2006.
13. A. Del Fattore, L. Van Wesenbeeck, F. De Freitas et al., "A new heterozygous mutation (R714C) of the osteopetrosis gene, pleckstrin homolog domain containing family M (with run domain) member 1(PLEKHM1), impairs vesicular acidification and increases TRACP secretion in osteoclasts", Journal of Bone and Mineral Research, vol. 23, no. 3, pp. 380-391, 2008.
14. L. Van Wesenbeeck, P. R. Odgren, F. P. Coxon et al., "Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans", The Journal of Clinical Investigation, vol. 117, no. 4, pp. 919-930, 2007.
15. M. Aker, A. Rouvinski, S. Hashavia et al., "An SNX10 mutation causes malignant osteopetrosis of infancy", Journal of Medical Genetics, vol. 49, no. 4, pp. 221-226, 2012.
16. A. Mégarbané, A. Pangrazio, A. Villa et al., "Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia", European Journal of Medical Genetics, vol. 56, no. 1, pp. 32-35, 2013.
17. C. Sobacchi, A. Frattini, P. Orchard et al., "The mutational spectrum of human malignant autosomal recessive osteopetrosis", Human Molecular Genetics, vol. 10, no. 17, pp. 1767-1773, 2001.
18. M.-C. De Vernejoul, "Sclerosing bone disorders", Best Practice and Research: Clinical Rheumatology, vol. 22, no. 1, pp. 71-83, 2008.
19. A. Frattini, P. J. Orchard, C. Sobacchi et al., "Deffects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis", Nature Genetics, vol. 25, no. 3, pp. 343-346, 2000.
20. U. Kornak, D. Kasper, M. R. Bösl et al., "Loss of the CIC-7 chloride channel leads to osteopetrosis in mice and man", Cell, vol. 104, no. 2, pp. 205-215, 2001.
21. N. Chalhoub, N. Benachenhou, V. Rajapurohitam et al., "Greylethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human", Nature Medicine, vol. 9, no. 4, pp. 399-406, 2003.
22. P. F. Lange, L. Wartosch, T. J. Jentsch, and J. C. Fuhrmann, "ClC-7 requires Ostm1 as a β-subunit to support bone resorption and lysosomal function", Nature, vol. 440, no. 7081, pp. 220-223, 2006.
23. A. Pangrazio, P. L. Poliani, A. Megarbane et al., "Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement", Journal of Bone and Mineral Research, vol. 21, no. 7, pp. 1098-1105, 2006.
24. A. Pangrazio, A. Fasth, A. Sbardellati et al., "SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity", Journal of Bone and Mineral Research, vol. 28, no. 5, pp. 1041-1049, 2013.
25. A. Pangrazio, B. Cassani, M. M. Guerrini et al., "RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutations", Journal of Bone and Mineral Research, vol. 27, no. 2, pp. 342-351, 2012.
26. C. Sobacchi, A. Frattini, M. M. Guerrini et al., "Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL", Nature Genetics, vol. 39, no. 8, pp. 960-962, 2007.
27. A. Villa, M. M. Guerrini, B. Cassani, A. Pangrazio, and C. Sobacchi, "Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor", Calcified Tissue International, vol. 84, no. 1, pp. 1-12, 2009.
28. -/- mice: a new therapy for human RANKL-dependent ARO", Journal of Bone and Mineral Research, vol. 27, no. 12, pp. 2501-2510, 2012.
29. W. S. Sly, D. Hewett-Emmett, M. P. Whyte, Y. S. Yu, and R. E. Tashian, "Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcifcation", Proceedings of the National Academy of Sciences of the United States of America, vol. 80, no. 9, pp. 2752-2756, 1983.
30. W. S. Sly, M. P. Whyte, V. Sundaram et al., "Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification", The New England Journal of Medicine, vol. 313, no. 3, pp. 139-145, 1985.
31. R. L. Jilka, J. I. Rogers, R. G. Khalifah, and H. K. Vaananen, "Carbonic anhydrase isozymes of osteoclasts and erythrocytes of osteopetrotic microphthalmic mice", Bone, vol. 6, no. 6, pp. 445-449, 1985.
32. J. Bollerslev, K. Henriksen, M. F. Nielsen, K. Brixen, and W. Van Hul, "Autosomal dominant osteopetrosis revisited: lessons from recent studies", European Journal of Endocrinology, vol. 169, no. 2, pp. R39-R57, 2013.
33. M. C. De Vernejoul, A. Schulz, and U. Kornak, "CLCN7-related osteopetrosis", in GeneReviews, 2007.
34. O. D. Bénichou, J. D. Laredo, and M. C. De Vernejoul, "Type II autosomal dominant osteopetrosis (Albers-Schonberg disease): clinical and radiological manifestations in 42 patients", Bone, vol. 26, no. 1, pp. 87-93, 2000.
35. T. Schinke, A. F. Schilling, A. Baranowsky et al., "Impaired gastric acidification negatively affects calcium homeostasis and bone mass", Nature Medicine, vol. 15, no. 6, pp. 674-681, 2009.
36. F. Barvencik, I. Kurth, T. Koehne et al., "CLCN7 and TCIRG1 mutations differentially afect bone matrix mineralization in osteopetrotic individuals", Journal of Bone and Mineral Research, vol. 29, no. 4, pp. 982-991, 2014.
37. C. Supanchart, L. Wartosch, C. Schlack et al., "ClC-7 expression levels critically regulate bone turnover, but not gastric acid secretion", Bone, vol. 58, pp. 92-102, 2014.
38. P. V. Hauschka, J. B. Lian, D. E. Cole, and C. M. Gundberg, "Osteocalcin and matrix Gla protein: vitamin K-dependent proteins in bone", Physiological Reviews, vol. 69, no. 3, pp. 990-1047, 1989.
39. J. A. Engelke, J. E. Hale, J. W. Suttie, and P. A. Price, "Vitamin K-dependent carboxylase: utilization of decarboxylated bone Gla protein and matrix Gla protein as substrates", Biochimica et Biophysica Acta, vol. 1078, no. 1, pp. 31-34, 1991.
40. M. Ferron and J. Lacombe, "Regulation of energy metabolism by the skeleton: osteocalcin and beyond", Archives of Biochemistry and Biophysics, vol. 561, pp. 137-146, 2014.
41. M. Ferron, J. Wei, T. Yoshizawa et al., "Insulin signaling in osteoblasts integrates bone remodeling and energy metabolism", Cell, vol. 142, no. 2, pp. 296-308, 2010.
42. F. Oury, "A crosstalk between bone and gonads", Annals of the New York Academy of Sciences, vol. 1260, no. 1, pp. 1-7, 2012.
43. F. Oury, G. Sumara, O. Sumara et al., "Endocrine regulation of male fertility by the skeleton", Cell, vol. 144, no. 5, pp. 796-809, 2011.
44. P. E. Cohen, M. P. Hardy, and J. W. Pollard, "Colony-stimulating factor-1 plays a major role in the development of reproductive function in male mice", Molecular Endocrinology, vol. 11, no. 11, pp. 1636-1650, 1997.
45. U. Lange, J. Teichmann, G. Schett, E. Neumann, and U. Müller-Ladner, "Osteoimmunology: how infammation influences bone metabolism", Deutsche Medizinische Wochenschrif, vol. 138, no. 37, pp. 1845-1849, 2013.
46. C. Blin-Wakkach, A. Wakkach, P. M. Sexton, N. Rochet, and G. F. Carle, "Hematological deffects in the oc/oc mouse, a model of infantile malignant osteopetrosis", Leukemia, vol. 18, no. 9, pp. 1505-1511, 2004.
47. Y.-Y. Kong, H. Yoshida, I. Sarosi et al., "OPGL is a key regulator of osteoclastogenesis, lymphocyte development and lymphnode organogenesis", Nature, vol. 397, no. 6717, pp. 315-323, 1999.
48. N. Lo Iacono, A. Pangrazio, M. Abinun et al., "RANKL cytokine: from pioneer of the osteoimmunology era to cure for a rare disease", Clinical and Developmental Immunology, vol. 2013, Article ID 412768, 9 pages, 2013.
49. M. M. Zaiss, K. Sarter, A. Hess et al., "Increased bone density and resistance to ovariectomy-induced bone loss in FoxP3-transgenic mice based on impaired osteoclast differentiation", Arthritis and Rheumatism, vol. 62, no. 8, pp. 2328-2338, 2010.
50. + T-cells suppress bone resorption in vitro", PLoS ONE, vol. 7, no. 6, Article ID e38199, 2012.
51. A. Del Fattore, M. Capannolo, and N. Rucci, "Bone and bone marrow: the same organ", Archives of Biochemistry and Biophysics, vol. 503, no. 1, pp. 28-34, 2010.
52. A. Mansour, G. Abou-Ezzi, E. Sitnicka, S. E. W. Jacobsen, A. Wakkach, and C. Blin-Wakkach, "Osteoclasts promote the formation of hematopoietic stem cell niches in the bone marrow", The Journal of Experimental Medicine, vol. 209, no. 3, pp. 537-549, 2012.
53. C. Blin-Wakkach, M. Rouleau, and A. Wakkach, "Roles of osteoclasts in the control of medullary hematopoietic niches", Archives of Biochemistry and Biophysics, vol. 561, pp. 29-37, 2014.
54. B. Lecka-Czernik and L. A. Stechschulte, "Bone and fat: a relationship of different shades", Archives of Biochemistry and Biophysics, vol. 561, pp. 124-129, 2014.
55. S. A. Kliewer, B. M. Forman, B. Blumberg et al., "Diferential expression and activation of a family of murine peroxisome proliferator-activated receptors", Proceedings of the National Academy of Sciences of the United States of America, vol. 91, no. 15, pp. 7355-7359, 1994.
56. T. Akune, S. Ohba, S. Kamekura et al., "PPARγ insuficiency enhances osteogenesis through osteoblast formation from bone marrow progenitors", Journal of Clinical Investigation, vol. 113, no. 6, pp. 846-855, 2004.
57. E. D. Rosen, P. Sarraf, A. E. Troy et al., "PPARγis required for the differentiation of adipose tissue in vivo and in vitro", Molecular Cell, vol. 4, no. 4, pp. 611-617, 1999.
58. Y. Wan, L.-W. Chong, and R. M. Evans, "PPAR-γ regulates osteoclastogenesis in mice", Nature Medicine, vol. 13, no. 12, pp. 1496-1503, 2007.
59. hyp/hyp mice relocates haematopoiesis to the spleen", EMBO Reports, vol. 5, no. 10, pp. 1007-1012, 2004.
60. A. Neve, A. Corrado, and F. P. Cantatore, "Osteocalcin: skeletal and extra-skeletal effects", Journal of Cellular Physiology, vol. 228, no. 6, pp. 1149-1153, 2013.