TLDR A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
The study investigated two unrelated young female patients with hereditary vitamin D resistant rickets (HVDRR) and partial alopecia, both exhibiting severe early onset rickets, hypocalcemia, and hypophosphatemia. Genetic analysis revealed a novel nonsense mutation (R50X) in the vitamin D receptor (VDR) gene, leading to a premature stop codon. This mutation resulted in the absence of VDR protein in skin fibroblasts from one patient, and treatment with 1,25-dihydroxyvitamin D3 failed to induce CYP24A1 gene expression, indicating resistance to 1,25(OH)2D3. The study concluded that this mutation truncates the VDR protein, causing the observed resistance and associated symptoms.
37 citations
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October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
21 citations
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January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
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.
139 citations
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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.
134 citations
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December 2018 in “Dermatology and Therapy” Some vitamins and minerals like vitamin D and iron can help with certain types of hair loss, but more research is needed for others.
25 citations
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August 2014 in “Endocrinology” Researchers created a mouse model of a type of rickets that does not cause hair loss.
151 citations
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June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
6 citations
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November 2017 in “Scientific reports” The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
37 citations
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October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
277 citations
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July 2002 in “Molecular Endocrinology” Removing part of the vitamin D receptor stops vitamin D from working properly.
