PANS: The Key Role of Mthfd1l for Folic Acid and Neural Tube
In 1940s, Mthfd1l was found. It is an enzyme encoded by Mthfd1l gene in human that involves in THF synthesis in mitochondria. It has been known for long time that certain variants of Mthfd1l are associated neural tube defects.
Weeks ago Proceedings of the National Academy of Sciences (PNAS) revealed a research finding regarding the Mthfd1l enzyme. The research was conducted on animal models.
It is well known that folic acid supplementation dramatically reduces the incidence of neural tube defects. In some population groups, folic acid supplementation has decreased neural tube defects by as much as 70 percent. However, it is not totally clear for scientists how folic acid decreases neural tube defects, or why folic acid supplementation can’t eliminate birth defects in all pregnancies.
In mice, the scientists found the key Mthfd1l mutation that causes neural tube defects. The mice were lack of Mthfd1l gene, while Mthfd1l is necessary for cells to produce formate. By this, scientists figured that it was just the formate that ensured folic acid function, which explained why the left 30 percent population won’t be protected by the folic acid supplementation. And scientists said this finding could be applied on humans as mice share the same gene for the folic acid enzyme.
Tags: Mthfd1l Enzyme, Folic Acid, Neural Tube