Parathyroid diseases and animal models

Frontiers in Endocrinology

Volumn 3, Issue JUN, 2012, Pages

  Imanishi, Yasuo ^a   Nagata, Yuki ^a   Inaba, Masaaki ^a  

^a OSAKA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Calcitriol; Car; Cinacalcet; Ckd; Fgf 23; Hyperparathyroidism; Klotho; Pth

Indexed keywords

EID: 84873653624     PISSN: None     EISSN: 16642392     Source Type: Journal    
DOI: 10.3389/fendo.2012.00078     Document Type: Article

References (31)

1. Arnold, A. (1993). Genetic basis of endocrine disease 5. Molecular genetics of parathyroid gland neoplasia. J. Clin. Endocrinol Metab. 77, 1108-1112.
2. Ben-Dov, I. Z., Galitzer, H., Lavi-Moshayoff,V.,Goetz,R.,Kuro-O,M., Mohammadi, M., Sirkis, R., Naveh-Many, T., and Silver, J. (2007). The parathyroid is a target organ for FGF23 in rats. J. Clin. Invest. 117, 4003-4008.
3. Bertolino, P., Tong, W. M., Galendo, D., Wang, Z. Q., and Zhang, C. X. (2003). Heterozygous Men1 mutant mice develop a range of endocrine tumors mimicking multiple endocrine neoplasia type 1. Mol. Endocrinol. 17,1880-1892.
4. Canalejo, R., Canalejo, A., Martinez-Moreno, J. M., Rodriguez-Ortiz, M. E., Estepa, J. C., Mendoza, E J., Munoz-Castaneda, J. R., Shalhoub, V., Almaden, Y., and Rodriguez, M. (2010). FGF23 fails to inhibit uremic parathyroid glands. J. Am. Soc. Nephrol. 21, 1125-1135.
5. Carpten, J. D., Robbins, C. M., Vill-ablanca, A., Forsberg, L., Presciut-tini, S., Bailey-Wilson, J., Simonds, W F., Gillanders, E. M., Kennedy, A. M., Chen, J. D., Agarwal, S. K., Sood, R., Jones, M. P., Moses, T. Y., Haven, C., Petillo, D., Leotlela, P. D., Harding, B., Cameron, D., Pannett, A. A., Hoog, A., Heath, H. III, James-Newton, L. A., Robinson, B., Zarbo, R. J., Cavaco, B. M., Wassif, W., Per-rier, N. D., Rosen, I. B., Kristoffers-son, U., Turnpenny, P. D., Farnebo, L. O., Besser, G. M., Jackson, C. E., Mor-reau, H., Trent, J. M., Thakker, R. V., Marx, S. J., Teh, B. T., Larsson, C., and Hobbs, M. R. (2002). HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat. Genet. 32, 676-680.
6. Crabtree, J. S., Scacheri, P. C., Ward, J. M., Garrett-Beal, L., Emmert-Buck, M. R., Edgemon, K. A., Lorang, D., Libutti, S. K., Chandrasekharappa, S. C., Marx, S. J., Spiegel, A. M., and Collins, F. S. (2001). A mouse model of multiple endocrine neoplasia, type 1, develops multiple endocrine tumors. Proc. Natl. Acad. Sci. U.S.A. 98, 1118-1123.
7. Fritz, A., Walch, A., Piotrowska, K., Rosemann, M., Schaffer, E., Weber, K., Timper, A., Wildner, G., Graw, J., Hofler, H., and Atkinson, M. J. (2002). Recessive transmission of a multiple endocrine neoplasia syndrome in the rat. Cancer Res. 62, 3048-3051.
8. Haussler, M. R., Whitfield, G. K., Haus-sler, C. A., Hsieh, J. C., Thompson, P. D., Selznick, S. H., Dominguez, C. E., and Jurutka, P. W (1998). The nuclear vitamin D receptor: biological and molecular regulatory properties revealed.J. BoneMiner. Res. 13, 325-349.
9. Ho, C., Conner, D. A., Pollak, M. R., Ladd, D. J., Kifor, O., Warren, H. B., Brown, E. M., Seidman, J. G., and Seidman, C. E. (1995). A mouse model of human familial hypocal-ciuric hypercalcemia and neonatal severe hyperparathyroidism. Nat. Genet. 11,389-394.
10. Hofman-Bang, J., Martuseviciene, G., Santini, M. A., Olgaard, K., and Lewin, E. (2010). Increased parathyroid expression of klotho in uremic rats. Kidney Int. 78, 1119-1127.
11. Imanishi, Y. (2002). Molecular pathogenesis of tumorigenesis in sporadic parathyroid adenomas. J. Bone Miner. Metab. 20, 190-195.
12. Imanishi, Y., Hosokawa, Y., Yoshi-moto, K., Schipani, E., Mallya, S., Papanikolaou, A., Kifor, O., Tokura, T., Sablosky, M., Ledgard, F., Gronowicz, G.,Wang, T. C., Schmidt, E. V., Hall, C., Brown, E. M., Bron-son, R., and Arnold, A. (2001). Primary hyperparathyroidism caused by parathyroid-targeted overexpres-sion of cyclin D1 in transgenic mice. J. Clin. Invest. 107, 1093-1102.
13. Imanishi, Y., Inaba, M., Kawata, T., and Nishizawa, Y (2009a). Animal models of hyperfunctioning parathyroid diseases for drug development. Expert Opin. Drug Discov. 4, 727-740.
14. Imanishi, Y., Inaba, M., Kawata, T., and Nishizawa, Y (2009b). Cinacalcet in hyperfunctioning parathyroid diseases. Ther.Apher. Dial. 13(Suppl. 1), S7-S11.
15. Imanishi, Y., Kawata, T., Kenko, T., Wada, M., Nagano, N., Miki, T., Arnold, A., and Inaba, M. (2011). Cinacalcet HCl suppresses cyclin D1 oncogene-derived parathyroid cell proliferation in a murine model for primary hyperparathyroidism. Cal-cif. Tissue Int. 89,29-35.
16. Kaji, H., Canaff, L., Lebrun, J. J., Goltz-man, D., and Hendy, G. N. (2001). Inactivation of menin, a Smad3-interacting protein, blocks transforming growth factor type beta signaling. Proc. Natl. Acad. Sci. U.S.A. 98,3837-3842.
17. Kawai, K., Iwashita, T., Murakami, H., Hiraiwa, N., Yoshiki, A., Kusakabe, M., Ono, K., Iida, K., Nakayama, A., and Takahashi, M. (2000). Tissue-specific carcinogenesis in transgenic mice expressing the RET proto-oncogene with a multiple endocrine neoplasia type 2A mutation. Cancer Res. 60, 5254-5260.
18. Kawata, T., Imanishi, Y., Kobayashi, K., Kenko, T., Wada, M., Ishimura, E., Miki, T., Nagano, N., Inaba, M., Arnold, A., and Nishizawa, Y. (2005). Relationship between parathyroid calcium-sensing receptor expression and potency of the calcimimetic, cinacalcet, in suppressing parathyroid hormone secretion in an in vivo murine model of primary hyperparathyroidism. Eur. J. Endocrinol. 153, 587-594.
19. Komaba, H., Goto, S., Fujii, H., Hamada, Y., Kobayashi, A., Shibuya, K., Tom-inaga, Y., Otsuki, N., Nibu, K., Nak-agawa, K., Tsugawa, N., Okano, T., Kitazawa, R., Fukagawa, M., and Kita, T. (2010). Depressed expression of Klotho and FGF receptor 1 in hyperplastic parathyroid glands from uremic patients. Kidney Int. 77, 232-238.
20. Libutti, S. K., Crabtree, J. S., Lorang, D., Burns, A. L., Mazzanti, C., Hewitt, S. M., O'Connor, S., Ward, J. M., Emmert-Buck, M. R., Rema-ley, A., Miller, M., Turner, E., Alexander, H. R., Arnold, A., Marx, S. J., Collins, F. S., and Spiegel, A. M. (2003). Parathyroid gland-specific deletion of the mouse Men1 gene results in parathyroid neoplasia and hypercalcemic hyperparathyroidism. Cancer Res. 63, 8022-8028.
21. Liu, J., Lv, F., Sun, W., Tao, C., Ding, G., Karaplis, A., Brown, E., Goltzman, D., and Miao, D. (2011). The abnor mal phenotypes of cartilage and bone in calcium-sensing receptor deficient mice are dependent on the actions of calcium, phosphorus, and PTH. PLoS Genet. 7, e1002294. doi: 10.1371/journal.pgen. 1002294
22. Mallya, S. M., Wu, H. I., Saria, E. A., Corrado, K. R., and Arnold, A. (2010). Tissue-specific regulatory regions of the PTH gene localized by novel chromosome 11 rearrangement breakpoints in a parathyroid adenoma. J. Bone Miner. Res. 25, 2606-2612.
23. Meir, T., Levi, R., Lieben, L., Libutti, S., Carmeliet, G., Bouillon, R., Silver, J., and Naveh-Many, T. (2009). Deletion of the vitamin D receptor specifically in the parathyroid demonstrates a limited role for the receptor in parathyroid physiology. Am. J. Physiol. Renal Physiol. 297, F1192-F1198.
24. Mulligan, L. M., Kwok, J. B., Healey, C. S., Elsdon, M. J., Eng, C., Gardner, E., Love, D. R., Mole, S. E., Moore, J. K., Papi, L., Ponder, M. A., Telenius, H., Tunnacliffe, A., and Ponder, B. A. J. (1993). Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 363, 458-460.
25. Pellegata, N. S., Quintanilla-Martinez, L., Siggelkow, H., Samson, E., Bink, K., Hofler, H., Fend, F., Graw, J., and Atkinson, M. J. (2006). Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans. Proc. Natl. Acad. Sci. U.S.A. 103, 15558-15563.
26. Pollak, M. R., Brown, E. M., Chou, Y. H., Hebert, S. C., Marx, S. J., Steinmann, B., Levi, T., Seidman, C. E., and Seidman, J. G. (1993). Mutations in the human Ca2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 75, 1297-1303.
27. Santoro, M., Carlomagno, F., Romano, A., Bottaro, D. P., Dathan, N. A., Grieco, M., Fusco, A., Vecchio, G., Matoskova, B., Kraus, M. H., and Di Fiore, P. P. (1995). Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B. Science 267, 381-383.
28. Shimada, T., Kakitani, M., Yamazaki, Y., Hasegawa, H., Takeuchi, Y., Fujita, T., Fukumoto, S., Tomizuka, K., and Yamashita, T. (2004). Targeted ablation of Fgf23 demonstrates an essential physiological role of FGF23 in phosphate and vitamin D metabolism. J. Clin. Invest. 113, 561-568.
29. Urakawa, I., Yamazaki, Y., Shimada, T., Iijima, K., Hasegawa, H., Okawa, K., Fujita, T., Fukumoto, S., and Yamashita, T. (2006). Klotho converts canonical FGF receptor into a specific receptor for FGF23. Nature 444, 770-774.
30. Wang, P., Bowl, M. R., Bender, S., Peng, J., Farber, L., Chen, J., Ali, A., Zhang, Z., Alberts, A. S., Thakker, R. V., Shilatifard, A., Williams, B. O., and Teh, B. T. (2008). Parafibromin, a component of the human PAF complex, regulates growth factors and is required for embryonic development and survival in adult mice. Mol. Cell. Biol. 28,2930-2940.
31. Yoshizawa, T., Handa, Y., Uematsu, Y., Takeda, S., Sekine, K., Yoshihara, Y., Kawakami, T., Arioka, K., Sato, H., Uchiyama, Y., Masushige, S., Fukamizu, A., Matsumoto, T., and Kato,S. (1997). Mice lacking the vitamin D receptor exhibit impaired bone formation, uterine hypoplasia and growth retardation after weaning. Nat. Genet. 16, 391-396.