What genetic mutation causes vitamin D deficiency?

What genetic mutation causes vitamin D deficiency?

Conclusion: These studies confirm that CYP2R1 is the principal 25-hydroxylase in humans and demonstrate that CYP2R1 alleles have dosage-dependent effects on vitamin D homeostasis. CYP2R1 mutations cause a novel form of genetic vitamin D deficiency with semidominant inheritance.

What are the disorders of vitamin D?

Severe lack of vitamin D causes rickets, which shows up in children as incorrect growth patterns, weakness in muscles, pain in bones and deformities in joints….What are the signs and symptoms of vitamin D deficiency?

  • Fatigue.
  • Bone pain.
  • Muscle weakness, muscle aches, or muscle cramps.
  • Mood changes, like depression.

Can vitamin D deficiency be genetic?

However, 80 % of how your body absorbs Vitamin D is due to genetics. So no matter if you have a diet rich in Vitamin D or if you are getting plenty of sunlight, you may still be prone to a deficiency. Vitamin D deficiency has been linked to multiple skeletal health problems.

What is VDR mutation?

Hereditary Vitamin D Resistant Rickets (HVDRR) is a rare disease caused by mutations in the vitamin D receptor (VDR). The consequence of defective VDR is the inability to absorb calcium normally in the intestine.

How many genes does vitamin D regulate?

Via activating the VDR, vitamin D has direct effects on the epigenome and the expression of more than 1000 genes in most human tissues and cell types.

What are the main causes of vitamin D deficiency?

(Rickets; Osteomalacia) Vitamin D deficiency is most commonly caused by a lack of exposure to sunlight. Some disorders can also cause the deficiency. The most common cause is lack of exposure to sunlight, usually when the diet is deficient in vitamin D, but certain disorders can also cause the deficiency.

Why is beri beri caused?

Today, beriberi occurs mostly in people who abuse alcohol. Drinking heavily can lead to poor nutrition. Excess alcohol makes it harder for the body to absorb and store vitamin B1. In rare cases, beriberi can be genetic.

What is COMT v158m?

COMT v158m is the most studied SNP of the gene because it plays a vital role in intelligence, personality and the risk of developing a disease. Presence of the ‘A’ allele is said to decrease the activity of COMT by 3-4 times and affects cognitive and executive functions.

How does vitamin D affect gene expression?

The findings showed that serum vitamin D concentration increased by 65% and VDR gene expression sixty times (p = 0.001). Changes in body composition parameters were observed regarding body fat and lean mass.