Folate deficiency demystified -- why some people may be at a greater risk of disease

As many expectant mothers know, getting enough folate is key to avoiding neural tube defects in the baby during pregnancy. But for the individuals who carry certain genetic variants, dealing with folate deficiency can be a life-long struggle which can lead to serious neurological and heart problems and even death.

Now a Donnelly Centre study offers clues to how to recognize early those who are most at risk.

Defects in an enzyme called MTHFR, or 5,10-methylenetetrahydrofolate reductase, which modifies folate, or vitamin B9 as it is also known, to produce other essential cellular components, can increase a person's need for folate. MTHFR deficiency occurs when a person inherits two defective copies of this gene, one from each parent. Disease severity depends on the exact changes in the composition of the amino-acid residues which make up the protein and which are encoded by the two copies of the gene that a person carries.

"The benefit of recognizing MTHFR deficiency early is that you can start preventative therapy, including a high folate diet, very early in life and prevent or reduce the most severe effects," says Fritz Roth, a professor of molecular genetics in the END