TLDR A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
The study described a unique case of hereditary vitamin D resistant rickets (HVDRR) caused by a novel 102 bp insertion/duplication mutation in the VDR gene, leading to a truncated VDR protein. This mutation resulted in resistance to 1,25-dihydroxyvitamin D3 but did not cause total body alopecia, unlike other similar cases. The truncated VDR retained the ability to bind DNA and interact with the corepressor hairless (HR), suggesting these interactions might regulate hair growth and skin health independently of ligand binding and coactivator interactions. The findings indicated that VDR might regulate hair growth through mechanisms that do not require ligand binding or coactivator interactions, as the patient exhibited patchy hair growth despite the mutation.
137 citations,
September 2005 in “Proceedings of the National Academy of Sciences of the United States of America” The HR protein helps hair grow by blocking a hair growth inhibitor, aiding in hair follicle regeneration.
67 citations,
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215 citations,
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47 citations,
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57 citations,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” Vitamin D receptor is crucial for starting hair growth after birth.
139 citations,
September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
1308 citations,
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47 citations,
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6 citations,
July 2017 in “Biochemical and Biophysical Research Communications” The Hairless gene is crucial for hair cell development, affecting whether skin cells become hair or skin and oil gland cells.
