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Title: Mutant Genes May Cause Vitamin Deficiency
URL: http://www.pslgroup.com/dg/2A0D2.htm
Doctor's Guide
May 30, 1997


LONDON -- May 30, 1997 -- As many as one in seven people may carry genetic mutations that can cause them to have deficiency in the vitamin folic acid (folate) even though they are taking amounts recommended by many nutrition guidelines, researchers warn in this week's The Lancet.

Folate plays an important part in the synthesis of DNA and in the formation of certain proteins. Low levels of folate are associated with often disabling, and sometimes fatal, birth defects called neural-tube defects, and with anaemia. There is growing evidence to suggest low levels of folate may also increase the risk of coronary artery disease and stroke.

In the study, Professor John Scott of Dublin's Trinity College and co-workers took blood samples from two groups of healthy women, 242 of whom were pregnant and 318 who were not. They measured folate levels and tested for a gene that codes a protein called 5,10-methylenetetrahydrofolate reductase, an enzyme that enables folate to act within cells. In particular they looked for a mutation (677C T) in the gene that greatly reduces the efficiency of the enzyme. People with this mutation have been found to have lower tissue folate levels.

Ordinarily each person carries two copies of the gene for this enzyme. As a result, a person can have either two normal copies of the gene, two mutant copies of the gene, or one of each. The researchers found that among women in both groups, pregnant and non-pregnant, women who had two mutant copies of the gene also had, on average, red-cell folate levels that were significantly lower than in those women with two normal copies. There was also a significant difference in red-cell folate levels between those with one normal and one mutant copy of the gene and those who had two normal copies, but only among the pregnant women.

"These results suggest that a substantial minority of people in general populations may have increased folate needs," the researchers write.

"If genetic variants that cause altered nutrient status are common, as this study suggests," the researchers conclude, "there may be no such thing as a "normal" population with respect to nutrient requirements, as was assumed when dietary reference values were established."

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