How does a MTHFR gene mutation lead to a developing treatment for migraine with aura?


Genetic studies show that a mutation in the MTHFR gene can cause migraine with aura and other disorders. For those people, treatment with a nutraceutical can help.


“So knowing what particular gene it is can target what's the best treatment. I don't think that's quite the case with all types of migraine at the moment; however, there are some types of migraine where this could be useful. One of the areas is, I've mentioned susceptibility genes for the common types of migraine. One of the well-implicated susceptibility genes is a gene called MTHFR, methylenetetrahydrofolate reductase. Many studies from around the world have looked at this and found that it's a susceptibility variant, or gene, for migraine with aura. And so people who suffer from that have a much greater chance of having this particular — and it is a mutation that occurs in this gene. That mutation results in — an enzyme is the product of that gene and if you have the mutation, you only have about half the normal level of that enzyme produced.
“So, if you know that you have that particular one, then you can also look at how do you overcome that? And we've done some studies in our lab. We've done a few trials. Phase 1, 2, and 3 trials that have focused on that and shown that people who have that mutation, if they take some nutraceuticals that actually are cofactors of the enzyme, it boosts the activity of the enzyme even if you've got the mutation, and it had a big impact on migraine frequency, severity, and pain. So, here's an example of a susceptibility gene with a functional mutation but a treatment directed towards it. So for those who have that, this could be a useful treatment, too.”


The MTHFR gene is a susceptibility gene for migraine with aura. For those with the mutation, treatment with a nutraceutical can boost the amount of enzyme produced by MTHFR and have a big impact on migraine frequency, severity, and pain.

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Professor Lyn Griffiths, PhD, BSc Hons

Director, Centre for Genomics & Personalised Health
Queensland University of Technology, Australia

Professor Lyn Griffiths is the executive director of the Institute of Health and Biomedical Innovation, the largest interdisciplinary research institute at Queensland University of Technology. An active and respected molecular geneticist with more than 28 years of experience studying human complex gene disorders, with specific expertise in human gene mapping and gene expression analysis in migraine, cardiovascular disease, and several types of cancer. Professor Griffiths leads the Genomics Research Centre, in which the main focus of research is the identification of genes involved in common human disorders and the translation of this research into new diagnostics and therapeutics.

Professor Griffiths’ own genetics research has appeared in more than 350 peer-reviewed international journals and led to diagnostic breakthroughs for several neurogenetic disorders, including familial migraine, ataxia, epilepsy, and hereditary stroke. A fellow of the Queensland Academy of Arts and Science, Professor Griffiths has also established several significant international collaborations with the Texas Biomedical Research Institute, Oxford University, University of Vienna, the Italian National Research Council, the MS ANZgene Consortium, and the International Migraine Genetics Consortium.