Tryptophan Missense Mutation in the Ligand-Binding Domain of the Vitamin D Receptor Causes Severe Resistance to 1,25-Dihydroxyvitamin D

September 2002 in “ Journal of Bone and Mineral Research ”

T. M. Nguyen, Paola Adiceam, Marie-Laure Kottler, H. Guillozo, Marthe Rizk‐Rabin, Franck Brouillard, P. Lagier, Cassandre Palix, J. M. Garnier, M Garabédian

vitamin D receptor 1,25-dihydroxyvitamin D VDR 24-hydroxylase gene calcium homeostasis bone mineralization hair follicle development vitamin D

TLDR A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.

In this study, two siblings exhibited severe vitamin D-resistant rickets without alopecia due to a tryptophan to arginine substitution at amino acid 286 in the vitamin D receptor (VDR). Despite normal VDR protein and mRNA expression, their fibroblasts could not bind 1,25-dihydroxyvitamin D3, and the mutation abolished the 24-hydroxylase gene response. This highlighted the critical role of the VDR tryptophan in ligand binding and gene transactivation, essential for calcium homeostasis and bone mineralization, while suggesting that a stable VDR-bound ligand might not be necessary for normal hair follicle development.

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