Document Detail

Rescue of the phenotype of CYP27B1 (1alpha-hydroxylase)-deficient mice.
MedLine Citation:
PMID:  15225794     Owner:  NLM     Status:  MEDLINE    
The treatment of choice for pseudo Vitamin D deficiency rickets (PDDR), caused by mutations in the 25-hydroxyvitamin D-1alpha-hydroxylase (CYP27B1; 1alpha-OHase) gene, is replacement therapy with 1,25(OH)(2)D(3). We have previously engineered an animal model of PDDR by targeted inactivation of the 1alpha-OHase gene in mice (Endocrinology 142 (2001) 3135). Replacement therapy was performed in this model, and compared to feeding with a high calcium diet containing 2% calcium, 1.25% phosphorus, 20% lactose (rescue diet). Blood biochemistry analysis revealed that both rescue treatments corrected the hypocalcemia and secondary hyperparathyroidism. Bone histology and histomorphometry confirmed that the rickets and osteomalacia were cured by both rescue protocols. However, despite the restoration of normocalcemia, the rescue diet did not entirely correct bone growth as femur size remained significantly smaller than control in 1alpha-OHase(-/-) mice fed the rescue diet. These results demonstrate that correction of the abnormal mineral ion homeostasis by feeding with a high calcium rescue diet is effective to rescue the PDDR phenotype of 1alpha-OHase mutant mice. This treatment, however, does not appear as effective as 1,25(OH)(2)D(3) replacement therapy since bone growth remained impaired.
Olivier Dardenne; Josée Prud'homme; Francis H Glorieux; René St-Arnaud
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  The Journal of steroid biochemistry and molecular biology     Volume:  89-90     ISSN:  0960-0760     ISO Abbreviation:  J. Steroid Biochem. Mol. Biol.     Publication Date:  2004 May 
Date Detail:
Created Date:  2004-06-30     Completed Date:  2004-08-31     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9015483     Medline TA:  J Steroid Biochem Mol Biol     Country:  England    
Other Details:
Languages:  eng     Pagination:  327-30     Citation Subset:  IM    
Genetics Unit, Shriners Hospital for Children, Montreal, Que., Canada H3G 1A6.
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MeSH Terms
25-Hydroxyvitamin D3 1-alpha-Hydroxylase / genetics,  physiology*
Calcitriol / administration & dosage
Mice, Knockout
Reg. No./Substance:
32222-06-3/Calcitriol; EC 1.14.-/25-Hydroxyvitamin D3 1-alpha-Hydroxylase

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