Mucin 1 (Muc1) is a protein which forms part of the mucin family of proteins, which together form the mucus layer present on the eipthelial surface of our lungs and digestive system, it is encoded for by the MUC1 gene 1.
This mucus layer is important as it protects the delicate epithelial tissues of our lungs and digestive system from pathogens in the air or present in our food respectively. However, it also plays an important role in regulating numerous other factors of the airways and digestive system such as pH. In the digestive system alterations in mucus structure can lead to changes in dietary absorption of key nutrients.
The SNP rs4072037, or CG66A, in MUC1 which is associated with several poor health outcomes.
|rsID Number||Major Allele||Minor Allele||Minor Allele Frequency (%)||Major Amino Acid||Minor Amino Acid|
The risk ‘C/G’ allele of C/G66A in MUC1 is associated with an increased risk of several cancers of the digestive system 2,3 and also hypomagnesemia, a deficiency of magnesium in the blood 4.
The mechanism by which the ‘C/G’ allele of C/G66A contributes to an elevated cancer risk is not known, however studies have shown that overexpression of MUC1 can inhibit tumor death and also promote tumor invasion 5,6. Therefore, it is possible to hypothesise that the ‘C/G’ allele of C/G66A is associated with an increased production of Muc1.
Hypomagnesemia is associated with diabetes, high blood pressure and osteoporosis 7,9. Again, no mechanism linking the ‘C/G’ allele of C/G66A with hypomagnesemia been described but if the hypothesis above is correct and the ‘C/G’ allele of C/G66A leads to increased secretion of Muc1, forming a barrier which could then limit magnesium absorption from the gut.
The risk ‘G’ allele of CG66A is associated with hypomagnesemia through an unknown mechanism. Supplementation with magnesium may prove beneficial in correcting this effect.
Discuss this information with your doctor before taking any course of action.