TLDR A mutation in the VDR gene affects hair cycling without needing ligand binding.
A study reported a Thai girl with hereditary vitamin D resistant rickets (HVDRR) and partial alopecia, caused by a novel splice site mutation in the vitamin D receptor (VDR) gene. The mutation, 462 + 1 G → C, led to the inclusion of an entire intron into the mRNA, resulting in a protein lacking a ligand-binding domain. Despite this, the girl did not develop total alopecia, suggesting that the VDR's role in hair cycling was independent of ligand binding.
45 citations
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December 2006 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” Vitamin D and its receptor are essential for hair growth, cell regulation, immune function, and heart health.
144 citations
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December 2004 in “Molecular Endocrinology” The vitamin D receptor is essential for normal hair growth, even without its usual binding.
67 citations
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August 2004 in “Endocrinology” A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
137 citations
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April 2001 in “Journal of Clinical Investigation” Alopecia in these mice is caused by defective hair cycle communication due to missing vitamin D receptor function, not vitamin D levels.
31 citations
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January 2007 in “Journal of biological chemistry/The Journal of biological chemistry” Stress activates a special function of the Vitamin D receptor with the help of c-Jun, which can also prevent cell death.
