TLDR Removing part of the vitamin D receptor stops vitamin D from working properly.
The study generated vitamin D receptor (VDR) null mutant mice with a VDR lacking the DNA binding domain but retaining the hormone binding domain. These mice exhibited widespread lacZ expression and phenocopied VDR protein-lacking mice, showing growth retardation, rickets, secondary hyperparathyroidism, and alopecia. Despite dietary normalization of blood calcium and serum PTH levels, a renal calcium leak persisted. Pharmacological doses of vitamin D metabolites failed to elicit responses in key tissues, indicating the mutant receptor's nonfunctionality and the minor role of non-classical vitamin D signaling pathways. Additionally, rapid nongenomic responses in osteoblasts were absent, confirming the classical VDR's role in these actions.
519 citations,
October 1998 in “Endocrinology” Diet can prevent bone issues but not hair loss in mice lacking vitamin D receptors.
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.
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.
25 citations,
August 2014 in “Endocrinology” Researchers created a mouse model of a type of rickets that does not cause hair loss.
151 citations,
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.
7 citations,
June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
107 citations,
March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.