Andy Hoofnagle (Presenter)
University of Washington
Bio: I am Associate Professor of Laboratory Medicine at the University of Washington and Head of the Division of Clinical Chemistry. Our laboratory develops assays for small molecules and proteins for large epidemiological studies and clinical care.
Authorship: Tom Laha (1), Richard Phillips (2), Dan Holmes (3), and Andy Hoofnagle (1)
(1) University of Washington, Seattle (2) University of British Columbia Medical School, Victoria Site (3) St. Paul's Hospital and University of British Columbia, Vancouver
| Short Abstract Precursor and active vitamin D hormone are catabolized by CYP24A1, which helps maintain normal concentrations of active hormone in target tissues. Genetic deficiency of CYP24A1 leads to inappropriately high concentrations of hormone and can result in severe hypercalcemia. The diagnosis of deficiency can be made in the setting of elevated plasma concentrations of 1,25-dihydroxyvitamin D and low 24,25-dihydroxyvitamin D compared with 25-dihydroxyvitamin D. Chronic kidney disease also leads to decreased 24,25-dihydroxyvitamin D but also reduced 1,25-dihydroxyvitamin D. We have developed a multiplexed assay that can be used to quantify precursor, active hormone, and catabolite in large epidemiological studies. We have also used it to efficiently screen for genetic deficiency and present a case study of CYP24A1 deficiency in an adult. |
Long Abstract
Precursor and active vitamin D hormone are catabolized by CYP24A1, which helps maintain normal concentrations of active hormone in target tissues. Genetic deficiency of CYP24A1 leads to inappropriately high concentrations of hormone and can result in severe hypercalcemia. The diagnosis of deficiency can be made in the setting of elevated plasma concentrations of 1,25-dihydroxyvitamin D and low 24,25-dihydroxyvitamin D compared with 25-dihydroxyvitamin D. Chronic kidney disease also leads to decreased 24,25-dihydroxyvitamin D but also reduced 1,25-dihydroxyvitamin D. We have developed a multiplexed assay that can be used to quantify precursor, active hormone, and catabolite in large epidemiological studies. We have also used it to efficiently screen for genetic deficiency and present a case study of CYP24A1 deficiency in an adult.
References & Acknowledgements:
| Description | Y/N | Source |
| Grants | yes | Waters (to the University of Washington) |
| Salary | no | |
| Board Member | no | |
| Stock | no | |
| Expenses | no |
IP Royalty: no
| Planning to mention or discuss specific products or technology of the company(ies) listed above: | no |