UCSF DIABETES, ENDOCRINOLOGY & METABOLISM TRAINING PROGRAM FACULTY RESEARCH SUMMARIES

I have extensive experience in GCRC-based human investigation in the area of vitamin D and phosphorus metabolism. Specifically, my work has been in the pathogenesis of secondary hyperparathyroidism in chronic renal failure; regulation of 1,25-dihydroxyvitamin D metabolism by phosphorus; the effect of aging on regulation of vitamin D metabolism; the effect of aging on parathyroid function; and bone loss after renal transplantation. I led the group that cloned the vitamin D 1 a -hydroxylase gene and continue to work on the molecular regulation of this gene by phosphorus and fibroblast growth factor 23 (FGF-23). I continue to investigate the molecular genetic basis of autosomal recessive 1 a -hydroxylase deficiency, work which follows the identification of the first mutations in this gene in affected patients.

Selected References

Zhang MYH, Wang X, Wang JT, Compagnone NA, Mellon SH, Olson JL, Tenehouse HS, Miller WL, Portale AA: Dietary phosphorus transcriptionally regulates 25-hydroxyvitamin D-1 a -hydroxylase gene expression in the proximal renal tubule. Endocrinology, 143:587-595, 2002.

Wang X, Zhang MYH, Miller WL, Portale AA: Novel gene mutations in patients with 1 a -hydroxylase deficiency that confer partial enzyme activity in vitro. J Clin Endocrinol Metab, 87:2424-2430, 2002.

Xie Z, Munson SJ, Huang N, Schuster I, Portale AA, Miller WL, Bikle DD: The mechanism of 1,25-dihydroxyvitamin D 3 auto-regulation in keratinocytes. J Biol Chem 277:36987-36990, 2002.

Azam N, Zhang MYH, Wang X, Tenehouse HS, Portale AA: Disordered regulation of renal 25-hydroxyvitamin D-1 a -hydroxylase gene expression by phosphorous in X-linked hypophosphatemic (Hyp) mice. Endocrinology 144:3463-3468, 2003.

back to faculty list