Sunday, July 6, 2008

Some genetic defects treatable with supplements

An article published early online on June 3, 2008 in the Proceedings of the National Academy of Sciences reports the prediction of Jasper Rine and colleagues at the University of California, Berkeley that soon-to-be-available personalized genome sequencing will uncover minor genetic flaws that can easily be corrected with nutrition, enabling people to personalize their supplement routine.

"Headlines for the last 20 years have really been about the triumph of biomedical research in finding disease genes, which is biologically interesting, genetically important and frightening to people who get this information," Dr Rine. "I became obsessed with trying to decide if there is some other class of information that will make people want to look at their genome sequence."Variations in genes responsible for the production of enzymes involved in metabolism affect the efficiency of these enzymes.

While having two copies of a defective gene can result in one of many rare metabolic diseases that can be treated with vitamin supplements, many individuals have only one copy, or have two copies of only slightly defective genes, whose subtle effects on enzymes, Dr Rine’s team found, could also be remedied by vitamin supplementation. The current study examined one human enzyme, methylenetetrahydrofolate reductase (MTHFR), which requires the B vitamin folate to function properly.

The enzyme plays a role in DNA nucleotide synthesis. Among 564 individuals, 3 common variants and 11 minor, uncommon genetic variants of MTHFR were found. When these gene variants were synthesized and inserted into yeast cells, the most common variant and 4 of the uncommon variants were found to affect the enzyme's function, yet supplementation of the yeast with folate restored full functionality to all but one of these. Continue Reading

No comments: