Take another CYP: Confirming a novel mechanism for "idiopathic" hypercalcemia

Journal of Clinical Endocrinology and Metabolism

Volumn 97, Issue 3, 2012, Pages 768-771

  Carpenter, Thomas O ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

25 HYDROXYVITAMIN D; CALCITRIOL; CALCIUM; CYTOCHROME P450; CYTOCHROME P450 24A1; FIBROBLAST GROWTH FACTOR 23; GLUCOCORTICOID; OXYGENASE; UNCLASSIFIED DRUG; VITAMIN D;

AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CALCIUM HOMEOSTASIS; CYP24A1 GENE; EDITORIAL; ENZYME ACTIVITY; GENE; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; HYPERCALCEMIA; IDIOPATHIC DISEASE; LOSS OF FUNCTION MUTATION; NONHUMAN; ONSET AGE; PRIORITY JOURNAL; VITAMIN D METABOLISM; VITAMIN SUPPLEMENTATION;

14-ALPHA DEMETHYLASE INHIBITORS; CALCITRIOL; HUMANS; HYPERCALCEMIA; HYPERCALCIURIA; KETOCONAZOLE; MALE; STEROID HYDROXYLASES;

EID: 84858057332     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2012-1110     Document Type: Editorial

References (18)

1. Schlingmann KP, Kaufmann M, Weber S, Irwin A, Goos C, John U, Misselwitz J, Klaus G, Kuwertz-Bröking E, Fehrenbach H, Wingen AM, Güran T, Hoenderop JG, Bindels RJ, Prosser DE, Jones G, Konrad M 2011 Mutations in CYP24A1 and idiopathic infantile hypercalcemia. N Engl J Med 365:410-421
2. Dauber A, Nguyen TT, Sochett E, Cole DE, Horst R, Abrams SA, Carpenter TO, Hirschhorn JN 2012 Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia. J Clin Endocrinol Metab 97:E268-E274
3. Tebben PJ, Milliner DS, Horst RL, Harris PC, Singh RJ, Wu Y, Foreman JW, Chelminski PR, Kumar R 2012 Hypercalcemia, hypercalciuria and elevated calcitriol concentrations with autosomal dominant transmission due to CYP24A1 mutations: effects of ketoconazole therapy. J Clin Endocrinol Metab 97:E423-E427
4. Nguyen M, Boutignon H, Mallet E, Linglart A, Guillozo H, Jehan F, Garabedian M 2010 Infantile hypercalcemia and hypercalciuria:new insights into a vitamin D-dependent mechanism and response to ketoconazole treatment. J Pediatr 157:296-302
5. St-Arnaud R 2011 CYP24A1: structure, function, and physiological role. In: Feldman D, Pike JW, Adams JS, eds. Vitamin D. 3rd ed. London: Academic Press; 43-56
6. Canterbury JM, Lerman S, Claflin AJ, Henry H, Norman A, Reiss E 1978 Inhibition of parathyroid hormone secretion by 25-hydroxycholecalciferol and 24,25-dihydroxycholecalciferol in the dog. J Clin Invest 61:1375-1383 (Pubitemid 8324163)
7. Henry HL, Taylor AN, Norman AW 1977 Response of chick parathyroid glands to the vitamin D metabolites, 1,25-dihydroxycholecalciferol and 24,25-dihydroxycholecalciferol. J Nutr 107:1918-1926 (Pubitemid 8206383)
8. Seo EG, Einhorn TA, Norman AW 1997 24R,25-dihydroxyvitamin D3: an essential vitamin D3 metabolite for both normal bone integrity and healing of tibial fracture in chicks. Endocrinology 138: 3864-3872 (Pubitemid 27351941)
9. Boyan BD, Doroudi M, Schwartz Z 2011 Cartilage. In: Feldman D, Pike JW, Adams JS, eds. Vitamin D. 3rd ed. London: Academic Press; 507-519
10. Sakaki T, Sawada N, Komai K, Shiozawa S, Yamada S, Yamamoto K, Ohyama Y, Inouye K 2000 Dual metabolic pathway of 25-hydroxyvitamin D3 catalyzed by human CYP24. Eur J Biochem 267: 6158-6165
11. St-Arnaud R, Arabian A, Travers R, Barletta F, Raval-Pandya M, Chapin K, Depovere J, Mathieu C, Christakos S, Demay MB, Glorieux FH 2000 Deficient mineralization of intramembranous bone in vitamin D-24-hydroxylase-ablated mice is due to elevated 1,25- dihydroxyvitamin D and not to the absence of 24,25-dihydroxyvitamin D. Endocrinology 141:2658-2666 (Pubitemid 32269087)
12. Seo EG, Norman AW 1997 Three-fold induction of renal 25-hydroxyvitamin D3-24-hydroxylase activity and increased serum 24,25-dihydroxyvitamin D3 levels are correlated with the healing process after chick tibial fracture. J Bone Miner Res 12:598-606 (Pubitemid 27155219)
13. St-Arnaud R, Naja RP 2011 Vitamin D metabolism, cartilage and bone fracture repair. Mol Cell Endocrinol 347:48-54
14. Muindi JR, Yu WD, Ma Y, Engler KL, Kong RX, Trump DL, Johnson CS 2010 CYP24A1 inhibition enhances the antitumor activity of calcitriol. Endocrinology 151:4301-4312
15. Masuda S, Byford V, Arabian A, Sakai Y, Demay MB, St-Arnaud R, Jones G 2005 Altered pharmacokinetics of 1α,25-dihydroxyvitamin D3 and 25-hydroxyvitamin D3 in the blood and tissues of the 25- hydroxyvitamin D-24-hydroxylase (Cyp24a1) null mouse. Endocrinology 146:825-834 (Pubitemid 40129840)
16. Ren S, Nguyen L, Wu S, Encinas C, Adams JS, Hewison M 2005 Alternative splicing of vitamin D-24-hydroxylase: a novel mechanism for the regulation of extrarenal 1,25-dihydroxyvitamin D synthesis. J Biol Chem 280:20604-20611 (Pubitemid 40776763)
17. 3 24-hydroxylase (24(OH)ase) transcription by glucocorticoids: cooperative effects of the glucocorticoid receptor, C/EBPβ, and the vitamin D receptor in 24(OH)ase transcription. J Cell Biochem 110:1314-1323
18. Petkovich M, Helvig C, Epps T 2011 CYP24A1 regulation in health and disease. In: Feldman D, Pike JW, Adams JS, eds. Vitamin D. 3rd ed. London: Academic Press; 1525-1554