1,25-(OH)2D-24 hydroxylase (CYP24A1) deficiency as a cause of nephrolithiasis

Clinical Journal of the American Society of Nephrology

Volumn 8, Issue 4, 2013, Pages 649-657

  Nesterova, Galina ^a   Malicdan, May Christine ^a   Yasuda, Kaori ^b   Sakaki, Toshiyuki ^b   Vilboux, Thierry ^a   Ciccone, Carla ^a   Horst, Ronald ^c   Huang, Yan ^a   Golas, Gretchen ^a   Introne, Wendy ^a   Huizing, Marjan ^a   Adams, David ^a   Boerkoel, Cornelius F ^a   Collins, Michael T ^d   Gahl, William A ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b TOYAMA PREFECTURAL UNIVERSITY   (Japan)

^c Heartland Assays ^*  (United States)

^d NATIONAL INSTITUTE OF DENTAL AND CRANIOFACIAL RESEARCH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

1, 25 DIHYDROXYVITAMIN D3 24 HYDROXYLASE; CALCITRIOL; CELLULOSE PHOSPHATE; KETOCONAZOLE; OXYGENASE; THIAZIDE DIURETIC AGENT; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CALCIUM BLOOD LEVEL; CASE REPORT; CELL CULTURE; CHILD; CYP24A1 GENE; ENZYME ASSAY; ENZYME DEFICIENCY; EXTRACORPOREAL LITHOTRIPSY; FIBROBLAST; GENE; GENOTYPING TECHNIQUE; HUMAN; HUMAN CELL; HYPERCALCIURIA; KIDNEY CALCIFICATION; MALE; MUTATION; MUTATION RATE; NEPHROLITHIASIS; PEDIGREE ANALYSIS; PERCUTANEOUS NEPHROLITHOTOMY; RADIOIMMUNOASSAY; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; VITAMIN BLOOD LEVEL; WESTERN BLOTTING;

ADULT; CALCIUM; CHILD; FAMILY HEALTH; FEMALE; HUMANS; HYPERCALCIURIA; MALE; NEPHROCALCINOSIS; NEPHROLITHIASIS; PEDIGREE; PHOSPHATES; PRIMARY CELL CULTURE; STEROID HYDROXYLASES; VITAMIN D;

EID: 84876052295     PISSN: 15559041     EISSN: 1555905X     Source Type: Journal    
DOI: 10.2215/CJN.05360512     Document Type: Article

References (51)

1. Sayer JA, Carr G, Simmons NL: Nephrocalcinosis: Molecular insights into calcium precipitation within the kidney. Clin Sci (Lond) 106: 549-561, 2004
2. Vervaet BA, Verhulst A, D'Haese PC, De Broe ME: Nephrocalcinosis: New insights into mechanisms and consequences. Nephrol Dial Transplant 24: 2030-2035, 2009
3. Knoll T, Schubert AB, Fahlenkamp D, Leusmann DB, Wendt- Nordahl G, Schubert G: Urolithiasis through the ages: Data on more than 200,000 urinary stone analyses. J Urol 185: 1304-1311, 2011
4. Miller NL, Humphreys MR, Coe FL, Evan AP, Bledsoe SB, Handa SE, Lingeman JE: Nephrocalcinosis: Re-defined in the era of endourology. Urol Res 38: 421-427, 2010
5. Stechman MJ, Loh NY, Thakker RV: Genetics of hypercalciuric nephrolithiasis: Renal stone disease. Ann N Y Acad Sci 1116: 461-484, 2007
6. Cioppi F, Taddei L, Brandi ML, Croppi E: Idiopathic hypercalciuria and calcium renal stone disease: Our cases. Clin Cases Miner Bone Metab 6: 251-253, 2009
7. Curhan GC, Willett WC, Speizer FE, Stampfer MJ: Twenty-fourhour urine chemistries and the risk of kidney stones among women and men. Kidney Int 59: 2290-2298, 2001
8. Sakaki T, Kagawa N, Yamamoto K, Inouye K: Metabolism of vitamin D3 by cytochromes P450. Front Biosci 10: 119-134, 2005
9. DeLuca HF: Metabolism of vitamin D: Current status. Am J Clin Nutr 29: 1258-1270, 1976
10. Scarpelli DG, Tremblay G, Pearse AGE: A comparative cytochemical and cytologic study of vitamin D induced nephrocalcinosis. Am J Pathol 36: 331-353, 1960
11. 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: Mutations in CYP24A1 and idiopathic infantile hypercalcemia. N Engl J Med 365: 410-421, 2011
12. Tebben PJ, Milliner DS, Horst RL, Harris PC, Singh RJ, Wu Y, Foreman JW, Chelminski PR, Kumar R: 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, 2012
13. Gahl WA, Tifft CJ: The NIH Undiagnosed Diseases Program: Lessons learned. JAMA 305: 1904-1905, 2011
14. Gahl WA, Markello TC, Toro C, Fajardo KF, Sincan M, Gill F, Carlson-Donohoe H, Gropman A, Pierson TM, Golas G, Wolfe L, Groden C, Godfrey R, Nehrebecky M, Wahl C, Landis DM, Yang S, Madeo A, Mullikin JC, Boerkoel CF, Tifft CJ, Adams D: The National Institutes of Health Undiagnosed Diseases Program: Insights into rare diseases. Genet Med 14: 51-59, 2012
15. Takashima A: Establishment of fibroblast cultures. Curr Protoc Cell Biol Chapter 2: Unit 2.1, 2001
16. Gunay-Aygun M, Falik-Zaccai TC, Vilboux T, Zivony-Elboum Y, Gumruk F, Cetin M, Khayat M, Boerkoel CF, Kfir N, Huang Y, Maynard D, Dorward H, Berger K, Kleta R, Anikster Y, Arat M, Freiberg AS, Kehrel BE, Jurk K, Cruz P, Mullikin JC, White JG, Huizing M, Gahl WA: NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet a-granules. Nat Genet 43: 732-734, 2011
17. Horst RL, Littledike ET, Gray RW, Napoli JL: Impaired 24,25- dihydroxyvitamin D production in anephric human and pig. J Clin Invest 67: 274-280, 1981
18. Strathmann FG, Laha TJ, Hoofnagle AN: Quantification of 1a,25-dihydroxy vitamin D by immunoextraction and liquid chromatography-tandem mass spectrometry. Clin Chem 57: 1279-1285, 2011
19. Abe D, Sakaki T, Kusudo T, Kittaka A, Saito N, Suhara Y, Fujishima T, Takayama H, Hamamoto H, Kamakura M, Ohta M, Inouye K: Metabolism of 2 alpha-propoxy-1 alpha,25-dihydroxyvitamin D3 and 2 alpha-(3-hydroxypropoxy)-1 alpha,25- dihydroxyvitamin D3 by human CYP27A1 and CYP24A1. Drug Metab Dispos 33: 778-784, 2005
20. Kusudo T, Sakaki T, Abe D, Fujishima T, Kittaka A, Takayama H, Hatakeyama S, Ohta M, Inouye K: Metabolism of A-ring diastereomers of 1alpha,25-dihydroxyvitamin D3 by CYP24A1. Biochem Biophys Res Commun 321: 774-782, 2004
21. Trinchieri A: Epidemiology of urolithiasis: An update. Clin Cases Miner Bone Metab 5: 101-106, 2008
22. Curhan GC: Epidemiology of stone disease. Urol Clin North Am 34: 287-293, 2007
23. Romero V, Akpinar H, Assimos DG: Kidney stones: A global picture of prevalence, incidence, and associated risk factors. Rev Urol 12: e86-e96, 2010
24. Trinchieri A, Mandressi A, Luongo P, Coppi F, Pisani E: Familial aggregation of renal calcium stone disease. J Urol 139: 478-481, 1988
25. Curhan GC, Willett WC, Rimm EB, Stampfer MJ: Family history and risk of kidney stones. J AmSoc Nephrol 8: 1568-1573, 1997
26. Sas DJ: An update on the changing epidemiology and metabolic risk factors in pediatric kidney stone disease. Clin J Am Soc Nephrol 6: 2062-2068, 2011
27. Habbig S, Beck BB, Hoppe B: Nephrocalcinosis and urolithiasis in children. Kidney Int 80: 1278-1291, 2011
28. Masuda S, Prosser DE, Guo YD, Kaufmann M, Jones G: Generation of a homology model for the human cytochrome P450, CYP24A1, and the testing of putative substrate binding residues by site-directed mutagenesis and enzyme activity studies. Arch Biochem Biophys 460: 177-191, 2007
29. Sawada N, Sakaki T, Ohta M, Inouye K: Metabolism of vitamin D (3) by human CYP27A1. Biochem Biophys Res Commun 273: 977-984, 2000
30. Tanaka Y, DeLuca HF, Ikekawa N, Morisaki M, Koizumi N: Determination of stereochemical configuration of the 24-hydroxyl group of 24,25-dihydroxyvitamin D3 and its biological importance. Arch Biochem Biophys 170: 620-626, 1975
31. Jones G, Prosser DE, Kaufmann M: 25-Hydroxyvitamin D-24- hydroxylase (CYP24A1): Its important role in the degradation of vitamin D. Arch Biochem Biophys 523: 9-18, 2012
32. Kaufmann M, Prosser DE, Jones G: Bioengineering anabolic vitamin D-25-hydroxylase activity into the human vitamin D catabolic enzyme, cytochrome P450 CYP24A1, by a V391L mutation. J Biol Chem 286: 28729-28737, 2011
33. Ji HF, Shen L: CYP24A1 mutations in idiopathic infantile hypercalcemia. N Engl J Med 365: 1741; author reply 1742-1743, 2011
34. Streeten EA, Zarbalian K, Damcott CM: CYP24A1 mutations in idiopathic infantile hypercalcemia. N Engl J Med 365: 1741-1742, author reply 1742-1743, 2011
35. Okuda K, Usui E,Ohyama Y: Recent progress in enzymology and molecular biology of enzymes involved in vitamin D metabolism. J Lipid Res 36: 1641-1652, 1995
36. Iwata K, Yamamoto A, Satoh S, Ohyama Y, Tashiro Y, Setoguchi T: Quantitative immunoelectron microscopic analysis of the localization and induction of 25-hydroxyvitamin D3 24-hydroxylase in rat kidney. J Histochem Cytochem 43: 255-262, 1995
37. Akeno N, Saikatsu S, Kawane T, Horiuchi N: Mouse vitamin D- 24-hydroxylase: Molecular cloning, tissue distribution, and transcriptional regulation by 1alpha,25-dihydroxyvitamin D3. Endocrinology 138: 2233-2240, 1997
38. Akeno N, Matsunuma A, Maeda T, Kawane T, Horiuchi N: Regulation of vitamin D-1alpha-hydroxylase and -24-hydroxylase expression by dexamethasone in mouse kidney. J Endocrinol 164: 339-348, 2000
39. Anderson PH, May BK, Morris HA: Vitamin D metabolism: New concepts and clinical implications. Clin BiochemRev 24: 13-26, 2003
40. Annalora AJ, Bobrovnikov-Marjon E, Serda R, Pastuszyn A, Graham SE, Marcus CB, Omdahl JL: Hybrid homology modeling and mutational analysis of cytochrome P450C24A1 (CYP24A1) of the vitamin D pathway: Insights into substrate specificity and membrane bound structure-function. Arch Biochem Biophys 460: 262-273, 2007
41. Annalora A, Bobrovnikova-Marjon E, Serda R, Lansing L, ChiuML, Pastuszyn A, Iyer S, Marcus CB, Omdahl JL: Rat cytochrome P450C24 (CYP24A1) and the role of F249 in substrate binding and catalytic activity. Arch Biochem Biophys 425: 133-146, 2004
42. St-Arnaud R, Arabian A, Travers R, Barletta F, Raval-Pandya M, Chapin K, Depovere J, Mathieu C, Christakos S, Demay MB, Glorieux FH: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, 2000
43. Davies M, Mawer EB, Freemont AJ: The osteodystrophy of hypervitaminosisD: A metabolic study. QJ Med 61: 911-919, 1986
44. Nguyen M, Boutignon H, Mallet E, Linglart A, Guillozo H, Jehan F, Garabedian M: Infantile hypercalcemia and hypercalciuria: New insights into a vitamin D-dependent mechanism and response to ketoconazole treatment. J Pediatr 157: 296-302, 2010
45. Peehl DM, Seto E, Hsu JY, Feldman D: Preclinical activity of ketoconazole in combinationwith calcitriol or the vitamin D analogue EB 1089 in prostate cancer cells. J Urol 168: 1583-1588, 2002
46. Sharma S, Nieman L. Prolonged remission after long-term treatment with steroidogenesis inhibitors inCushing's syndrome caused by ectopic ACTH secretion. Eur J Endocrinol 166: 531-536, 2012
47. Chou SC, Lin JD: Long-term effects of ketoconazole in the treatment of residual or recurrent Cushing's disease. Endocr J 47: 401-406, 2000
48. Dauber A, Nguyen TT, Sochett E, Cole DE, Horst R, Abrams SA, Carpenter TO, Hirschhorn JN: Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia. J Clin Endocrinol Metab 97: E268-E274, 2012
49. Wang TJ, Zhang F, Richards JB, Kestenbaum B, van Meurs JB, Berry D, Kiel DP, Streeten EA, Ohlsson C, Koller DL, Peltonen L, Cooper JD, O'Reilly PF, Houston DK, Glazer NL, Vandenput L, Peacock M, Shi J, Rivadeneira F, McCarthy MI, Anneli P, de Boer IH, Mangino M, Kato B, Smyth DJ, Booth SL, Jacques PF, Burke GL, Goodarzi M, Cheung CL, Wolf M, Rice K, Goltzman D, Hidiroglou N, Ladouceur M, Wareham NJ, Hocking LJ, Hart D, Arden NK, Cooper C, Malik S, Fraser WD, Hartikainen AL, Zhai G, Macdonald HM, Forouhi NG, Loos RJ, Reid DM, Hakim A, Dennison E, Liu Y, Power C, Stevens HE, Jaana L, Vasan RS, Soranzo N, Bojunga J, Psaty BM, Lorentzon M, Foroud T, Harris TB, Hofman A, Jansson JO, Cauley JA, Uitterlinden AG, Gibson Q, Järvelin MR, Karasik D, Siscovick DS, Econs MJ, Kritchevsky SB, Florez JC, Todd JA, Dupuis J, Hyppönen E, Spector TD: Common genetic determinants of vitamin D insufficiency: A genome-wide association study. Lancet 376: 180-188, 2010
50. Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM, Sirotkin K: dbSNP: The NCBI database of genetic variation. Nucleic Acids Res 29: 308-311, 2001
51. Carpenter TO: Take another CYP: Confirming a novel mechanism for "idiopathic" hypercalcemia. J Clin Endocrinol Metab 97: 768-771, 2012