TLDR A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
The study investigated a case of hereditary vitamin D-resistant rickets (HVDRR) in a young Saudi Arabian girl, identifying a novel homozygous mutation (I268T) in the vitamin D receptor (VDR) gene. This mutation resulted in multiple defects in VDR function, including reduced ligand binding affinity, impaired retinoid X receptor heterodimerization, and decreased coactivator binding. The I268T mutation caused a 5- to 10-fold lower affinity for 1,25-dihydroxyvitamin D(3) and required a 65-fold higher concentration for gene transactivation compared to the wild-type VDR. The study suggested that vitamin D analogs, such as 20-epi-1,25(OH)(2)D(3), could potentially restore VDR function in patients with HVDRR, as this analog improved the stability and transactivation of the I268T mutant.
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September 2002 in “Journal of Bone and Mineral Research” A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.
1308 citations,
March 1998 in “Journal of bone and mineral research” The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
52 citations,
August 1993 in “Clinical endocrinology” Intravenous and oral calcium effectively treated vitamin D dependent rickets type II, improving growth and bone health.
1533 citations,
October 2008 in “Endocrine reviews” Mice without the vitamin D receptor have bone issues and other health problems, suggesting vitamin D is important for preventing various diseases in humans.
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January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
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March 1998 in “Journal of bone and mineral research” The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
276 citations,
April 2003 in “Molecular endocrinology” Vitamin D is important for bones, hair, blood pressure, and breast development.
62 citations,
January 2009 in “Biochemistry” Vitamin D receptor binds similarly to natural and synthetic ligands, affecting gene regulation.
28 citations,
January 2012 in “Biological & pharmaceutical bulletin” Hairless protein can both repress and activate vitamin D receptor functions, affecting gene regulation.
