The Role of Vitamin D Receptor Mutations in the Development of Alopecia

June 2011 in “ Molecular and Cellular Endocrinology ”

Peter J. Malloy, David Feldman, Peter J. Malloy, David Feldman

vitamin D receptor VDR mutations alopecia Hereditary Vitamin D Resistant Rickets HVDRR hairless protein HR RXR heterodimerization DNA binding negative regulator hair cycle

TLDR Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.

The study explored the role of vitamin D receptor (VDR) mutations in the development of alopecia, particularly in patients with Hereditary Vitamin D Resistant Rickets (HVDRR). It was found that VDR mutations can lead to alopecia by repressing certain genes in a ligand-independent manner, requiring RXR heterodimerization and DNA binding. The hairless protein (HR) may act as a co-repressor in this process. Despite treatments that correct metabolic abnormalities in HVDRR patients, alopecia often persisted, indicating a distinct mechanism involving VDR mutations. Mouse models supported these findings, highlighting the VDR's role as a negative regulator in the hair cycle.

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