High dietary phosphate intake induces development of ectopic calcifications in a murine model of familial tumoral calcinosis

Journal of Bone and Mineral Research

Volumn 29, Issue 9, 2014, Pages 2017-2023

  Ichikawa, Shoji ^a   Gray, Amie K ^a   Padgett, Leah R ^a   Reilly, Austin M ^a   Unsicker, Tyler R ^a  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

ECTOPIC CALCIFICATION; FGF23; GALNT3 KNOCKOUT MICE; HYPERPHOSPHATEMIA; TUMORAL CALCINOSIS

Indexed keywords

ALKALINE PHOSPHATASE; CALCIUM; CREATININE; FIBROBLAST GROWTH FACTOR 23; GLYCOSYLTRANSFERASE; PARATHYROID HORMONE; PHOSPHATE; N ACETYLGALACTOSAMINYLTRANSFERASE; POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE;

ALKALINE PHOSPHATASE BLOOD LEVEL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BACK; CALCIFICATION; CALCIUM BLOOD LEVEL; CHEEK; CHIN; CONTROLLED STUDY; CREATININE BLOOD LEVEL; ENZYME ACTIVITY; FAMILIAL DISEASE; FAMILIAL TUMORAL CALCINOSIS; FEMALE; GALNT3 GENE; GENE; GENOTYPE; HEART CALCIFICATION; HEART WEIGHT; HYPERPHOSPHATEMIA; KIDNEY; KIDNEY CALCIFICATION; KIDNEY FUNCTION; KIDNEY MASS; MALE; MANDIBLE; MOUSE; NECK; NONHUMAN; PARATHYROID HORMONE BLOOD LEVEL; PHOSPHATE BLOOD LEVEL; PHOSPHATE INTAKE; TISSUE LEVEL; TONGUE; TUMOR CALCINOSIS; UREA NITROGEN BLOOD LEVEL; ANIMAL; BLOOD; CALCINOSIS; DEFICIENCY; DIET; DISEASE MODEL; HEART MUSCLE; KNOCKOUT MOUSE; METABOLISM; PATHOLOGY; RADIOGRAPHY; URINE;

ANIMALS; CALCINOSIS; DIET; DISEASE MODELS, ANIMAL; KIDNEY; MICE; MICE, KNOCKOUT; MYOCARDIUM; N-ACETYLGALACTOSAMINYLTRANSFERASES; PHOSPHATES;

EID: 84904496858     PISSN: 08840431     EISSN: 15234681     Source Type: Journal    
DOI: 10.1002/jbmr.2242     Document Type: Article

References (47)

1. Carmichael KD, Bynum JA, Evans EB,. Familial tumoral calcinosis: a forty-year follow-up on one family. J Bone Joint Surg Am. 2009; 91 (3): 664-71.
2. Ichikawa S, Baujat G, Seyahi A, et al. Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. Am J Med Genet A. 2010; 152A (4): 896-903.
3. McPhaul JJ Jr, Engel FL,. Heterotopic calcification, hyperphosphatemia and angioid streaks of the retina. Am J Med. 1961; 31: 488-92.
4. Ghanchi F, Ramsay A, Coupland S, Barr D, Lee WR,. Ocular tumoral calcinosis. A clinicopathologic study. Arch Ophthalmol. 1996; 114 (3): 341-5.
5. Lyles KW, Burkes EJ, Ellis GJ, Lucas KJ, Dolan EA, Drezner MK,. Genetic transmission of tumoral calcinosis: autosomal dominant with variable clinical expressivity. J Clin Endocrinol Metab. 1985; 60 (6): 1093-6.
6. Mikati MA, Melhem RE, Najjar SS,. The syndrome of hyperostosis and hyperphosphatemia. J Pediatr. 1981; 99 (6): 900-4.
7. Clarke E, Swischuk LE, Hayden CK Jr., Tumoral calcinosis, diaphysitis, and hyperphosphatemia. Radiology. 1984; 151 (3): 643-6.
8. Talab YA, Mallouh A,. Hyperostosis with hyperphosphatemia: a case report and review of the literature. J Pediatr Orthop. 1988; 8 (3): 338-41.
9. Dumitrescu CE, Kelly MH, Khosravi A, et al. A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features. Osteoporos Int. 2009; 20 (7): 1273-8.
10. Joseph L, Hing SN, Presneau N, et al. Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3. Skeletal Radiol. 2010; 39 (1): 63-8.
11. Frishberg Y, Topaz O, Bergman R, et al. Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders. J Mol Med. 2005; 83 (1): 33-8.
12. Araya K, Fukumoto S, Backenroth R, et al. A novel mutation in fibroblast growth factor 23 gene as a cause of tumoral calcinosis. J Clin Endocrinol Metab. 2005; 90 (10): 5523-7.
13. Benet-Pagès A, Orlik P, Strom TM, Lorenz-Depiereux B,. An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. Hum Mol Genet. 2005; 14 (3): 385-90.
14. Chefetz I, Heller R, Galli-Tsinopoulou A, et al. A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification. Hum Genet. 2005; 118 (2): 261-6.
15. Larsson T, Yu X, Davis SI, et al. A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis. J Clin Endocrinol Metab. 2005; 90 (4): 2424-7.
16. Shimada T, Mizutani S, Muto T, et al. Cloning, characterization of FGF23 as a causative factor of tumor-induced osteomalacia. Proc Natl Acad Sci U S.A. 2001; 98 (11): 6500-5.
17. Saito H, Kusano K, Kinosaki M, et al. Human fibroblast growth factor-23 mutants suppress Na+-dependent phosphate co-transport activity and 1alpha,25-dihydroxyvitamin D3 production. J Biol Chem. 2003; 278 (4): 2206-11.
18. Shimada T, Muto T, Urakawa I, et al. Mutant FGF-23 responsible for autosomal dominant hypophosphatemic rickets is resistant to proteolytic cleavage and causes hypophosphatemia in vivo. Endocrinology. 2002; 143 (8): 3179-82.
19. Ichikawa S, Imel EA, Kreiter ML, et al. A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. J Clin Invest. 2007; 117 (9): 2684-91.
20. Kurosu H, Ogawa Y, Miyoshi M, et al. Regulation of fibroblast growth factor-23 signaling by klotho. J Biol Chem. 2006; 281 (10): 6120-3.
21. Urakawa I, Yamazaki Y, Shimada T, et al. Klotho converts canonical FGF receptor into a specific receptor for FGF23. Nature. 2006; 444 (7120): 770-4.
22. Ichikawa S, Lyles KW, Econs MJ,. A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive. J Clin Endocrinol Metab. 2005; 90 (4): 2420-3.
23. Topaz O, Shurman DL, Bergman R, et al. Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. Nat Genet. 2004; 36 (6): 579-81.
24. Frishberg Y, Ito N, Rinat C, et al. Hyperostosis-hyperphosphatemia syndrome: a congenital disorder of O-glycosylation associated with augmented processing of fibroblast growth factor 23. J Bone Miner Res. 2007; 22 (2): 235-42.
25. Kato K, Jeanneau C, Tarp MA, et al. Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation. J Biol Chem. 2006; 281 (27): 18370-7.
26. Shimada T, Hasegawa H, Yamazaki Y, et al. FGF-23 is a potent regulator of vitamin D metabolism and phosphate homeostasis. J Bone Miner Res. 2004; 19 (3): 429-35.
27. Larsson T, Marsell R, Schipani E, et al. Transgenic mice expressing fibroblast growth factor 23 under the control of the alpha1(I) collagen promoter exhibit growth retardation, osteomalacia, and disturbed phosphate homeostasis. Endocrinology. 2004; 145 (7): 3087-94.
28. Bai X, Miao D, Li J, Goltzman D, Karaplis AC,. Transgenic mice overexpressing human fibroblast growth factor 23 (R176Q) delineate a putative role for parathyroid hormone in renal phosphate wasting disorders. Endocrinology. 2004; 145 (11): 5269-79.
29. Shimada T, Yamazaki Y, Takahashi M, et al. Vitamin D receptor-independent FGF23 actions in regulating phosphate and vitamin D metabolism. Am J Physiol Renal Physiol. 2005; 289 (5): F1088-95.
30. Ichikawa S, Guigonis V, Imel EA, et al. Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations. J Clin Endocrinol Metab. 2007; 92 (5): 1943-7.
31. Ichikawa S, Imel EA, Sorenson AH, et al. Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene. J Clin Endocrinol Metab. 2006; 91 (11): 4472-5.
32. Ichikawa S, Sorenson AH, Austin AM, et al. Ablation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression. Endocrinology. 2009; 150 (6): 2543-50.
33. Ichikawa S, Austin AM, Gray AK, Allen MR, Econs MJ,. Dietary phosphate restriction normalizes biochemical and skeletal abnormalities in a murine model of tumoral calcinosis. Endocrinology. 2011; 152 (12): 4504-13.
34. Kemi VE, Karkkainen MU, Lamberg-Allardt CJ,. High phosphorus intakes acutely and negatively affect Ca and bone metabolism in a dose-dependent manner in healthy young females. Br J Nutr. 2006; 96 (3): 545-52.
35. Kemi VE, Rita HJ, Karkkainen MU, et al. Habitual high phosphorus intakes and foods with phosphate additives negatively affect serum parathyroid hormone concentration: a cross-sectional study on healthy premenopausal women. Public Health Nutr. 2009; 12 (10): 1885-92.
36. Esapa CT, Head RA, Jeyabalan J, et al. A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis. PLoS One. 2012; 7 (8): e43205.
37. Slavin RE, Wen J, Kumar D, Evans EB,. Familial tumoral calcinosis. A clinical, histopathologic, and ultrastructural study with an analysis of its calcifying process and pathogenesis. Am J Surg Pathol. 1993; 17 (8): 788-802.
38. Hiramatsu R, Ubara Y, Hayami N, et al. Occurrence of new bone-like tissue formation in uremic tumoral calcinosis. Bone. 2013; 52 (2): 684-8.
39. Desjardins L, Liabeuf S, Renard C, et al. FGF23 is independently associated with vascular calcification but not bone mineral density in patients at various CKD stages. Osteoporos Int. 2012; 23 (7): 2017-25.
40. Srivaths PR, Goldstein SL, Silverstein DM, Krishnamurthy R, Brewer ED,. Elevated FGF 23 and phosphorus are associated with coronary calcification in hemodialysis patients. Pediatr Nephrol. 2011; 26 (6): 945-51.
41. Goodman WG, Goldin J, Kuizon BD, et al. Coronary-artery calcification in young adults with end-stage renal disease who are undergoing dialysis. N Engl J Med. 2000; 342 (20): 1478-83.
42. Shroff RC, Donald AE, Hiorns MP, et al. Mineral metabolism and vascular damage in children on dialysis. J Am Soc Nephrol. 2007; 18 (11): 2996-3003.
43. Zhang Y, Safar ME, Iaria P, et al. Cardiac and arterial calcifications and all-cause mortality in the elderly: the PROTEGER Study. Atherosclerosis. 2010; 213 (2): 622-6.
44. Kendrick J, Cheung AK, Kaufman JS, et al. FGF-23 associates with death, cardiovascular events, and initiation of chronic dialysis. J Am Soc Nephrol. 2011; 22 (10): 1913-22.
45. Seiler S, Reichart B, Roth D, Seibert E, Fliser D, Heine GH,. FGF-23 and future cardiovascular events in patients with chronic kidney disease before initiation of dialysis treatment. Nephrol Dial Transplant. 2010; 25 (12): 3983-9.
46. Faul C, Amaral AP, Oskouei B, et al. FGF23 induces left ventricular hypertrophy. J Clin Invest. 2011; 121 (11): 4393-408.
47. Ichikawa S, Austin AM, Gray AK, Econs MJ,. A Phex mutation in a murine model of X-linked hypophosphatemia alters phosphate responsiveness of bone cells. J Bone Miner Res. 2012; 27 (2): 453-60.