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Vitamin D: Normal Function, Metabolism, Diseases, and Emerging Therapeutics

  • René St-Arnaud
  • Marie B. Demay
Chapter
Part of the Topics in Bone Biology book series (TBB, volume 7)

Abstract

Vitamin D is produced in the skin upon exposure to ultraviolet light (sunlight). It is activated in two steps to function as a key regulator of mineral ion homeostasis. Vitamin D becomes bound to the vitamin D binding protein, DBP, in the circulation and is transported to the liver where the enzyme vitamin D 25-hydroxylase (CYP2R1) adds a hydroxyl group on carbon 25 to produce 25-hydroxyvitamin D [25(OH)D]. When the 25(OH)D metabolite enters the bloodstream, it also becomes bound to DBP. In the kidney, it is further hydroxylated, gaining hormonal bioactivity. Hydroxylation at position 1α by the enzyme 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1) converts 25(OH)D to 1α,25-dihydroxyvitamin D [1,25(OH)2D; calcitriol], the active, hormonal form of vitamin D. Upon reaching target tissues, 1,25(OH)2D binds to its specific receptor, the vitamin D receptor (VDR). This step enhances or inhibits the transcription of vitamin D target genes that carry out the physiological actions of 1,25(OH)2D: mineral homeostasis, skeletal homeostasis, and cellular differentiation.

Keywords

Vitamin D Vitamin D hydroxylases Vitamin D receptor Rickets Cytochrome p450 enzymes 

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Copyright information

© Springer-Verlag London 2012

Authors and Affiliations

  • René St-Arnaud
    • 1
    • 2
  • Marie B. Demay
    • 3
  1. 1.Departments of Medicine, Surgery, and Human GeneticsMcGill UniversityMontrealCanada
  2. 2.Genetics UnitShriners Hospital for ChildrenMontrealCanada
  3. 3.Endocrine Unit, Department of MedicineMassachusetts General Hospital, Harvard Medical SchoolBostonUSA

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