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Genetic disorders and defects in vitamin D action
Peter J Malloy1, David Feldman
1Division of Endocrinology, Gerontology and Metabolism, Stanford University School of Medicine, Stanford University, Stanford, CA 94305-5103, USA. pjmalloy@stanford.edu
Rheumatic Diseases Clinics of North America
|April 25, 2012
Summary
Genetic and biochemical studies of vitamin D receptor (VDR) in patients with hereditary vitamin D-resistant rickets (HVDRR) reveal its function in 1,25(OH)2D3 action. Research on HVDRR enhances understanding of 1,25(OH)2D3
Area of Science:
- Endocrinology
- Genetics
- Molecular Biology
Background:
- Hereditary vitamin D-resistant rickets (HVDRR) is a rare genetic disorder affecting vitamin D metabolism.
- The vitamin D receptor (VDR) plays a crucial role in mediating the actions of 1,25(OH)2D3.
Purpose of the Study:
- To investigate the biochemical and genetic basis of VDR in HVDRR patients.
- To elucidate the structure-function relationship of the VDR in 1,25(OH)2D3 action.
- To deepen the understanding of the biological role of 1,25(OH)2D3 in vivo.
Main Methods:
- Biochemical analysis of VDR.
- Genetic analysis of VDR in HVDRR patients.
- Clinical, cellular, and molecular investigations.
Main Results:
- Insights into VDR structure and function in mediating 1,25(OH)2D3 action.
- Enhanced understanding of the in vivo biologic role of 1,25(OH)2D3.
- Knowledge gained on VDR domain functions and 1,25(OH)2D3 mechanism of action.
Conclusions:
- Concerted research at multiple levels is valuable for understanding HVDRR.
- These studies improve diagnostic and clinical management of HVDRR.
- Findings promote the well-being of families affected by this rare genetic disease.
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