Why everyone is talking about the MTHFR gene.

Until last year, Sydney-based mum Georgia* had been living with what she describes as “mild but constant anxiety” for more than a decade.

During her twenties a GP told her she was experiencing anxiety and gave her exercises to manage it, but Georgia didn’t pursue further treatment because she was always able to attribute her feelings to what was going on in her life.

“I always had a really busy job, then I went through a few years with fertility issues, then I was pregnant, then I had small children. So I had always had stuff going on that made my life stressful and I didn’t realise the stress I was feeling wasn’t normal,” the 40-year-old explains.

When Georgia’s son was born and she stopped working, it became clear she still wasn’t coping.

“I thought, ‘I’m just at home with a toddler, I shouldn’t be feeling unusually anxious about getting out the door or finding a car spot in a car park. Why do I still feel stressed?'” she recalls.

It was around this time that Georgia’s husband sent her an article he thought might explain why she was feeling the way she did.


Day-to-day experiences like finding a car spot would leave Georgia in a heightened state all day. (Image: istock)

In the story, Elisa Black detailed her lifelong struggle with anxiety and the challenge of finding a treatment that worked for her. The News Corp journalist and author of The Anxiety Book wrote that her symptoms were "slayed" after being learning she had a mutation on her Methylenetetrahydrofolate Reductase (MTHFR) gene.

This gene encodes the MTHFR enzyme, which converts an inactive form of folate into an active form the body can use. CSIRO research scientist Professor Michael Fenech told Black problems with folate metabolism had been associated with depression and anxiety.

To combat this, her treatment — overseen by her GP in Adelaide — involved taking folinic acid.

Though Georgia's symptoms weren't as severe as Black's, her interest was piqued by the article. She consulted with a local naturopath, who instructed her to have her MTHFR gene assessed; Georgia's husband, a doctor, wrote a request form for her to have a blood test.


Georgia was informed she had a "double mutation" on the gene, one from each parent. Her naturopath also examined her levels of nutrients like zinc and iron, and said they were affecting Georgia's reactions to situations. "I had a moment of, 'Oh my gosh, now I understand why I feel like that'," she recalls.

Georgia describes her treatment as a trial and error process. For the past eight months she's been taking a multivitamin containing a form of folic acid called methylfolate. It's taken some experimentation to find the right amount of methylfolate — "when I take too much it's also not good, it makes me really irritated" — but she says it's completely changed the way she feels.

Watch: Mia Freedman discusses how she manages her anxiety. (Post continues after video.)

"I always felt very anxious and very tightly strung; I constantly felt a little bit on edge," Georgia explains.

"Now, I can just cope with things a lot better as they come along — just little day-to-day things that used to set me off and make me so angry or frustrated or nervy for the rest of the day, like deciding what to wear in the morning or parking my car."


She isn't alone in sharing her experience with MTHFR. The website of Sydney-based organisation MTHFR Support, for instance, has a number of testimonials from women and men who say they've seen results after being treated for variations in the gene by the group's founder, naturopath Carolyn Ledowsky.

Demand for MTHFR testing seems to be on the rise. Although Elisa Black's test was initiated by her doctor, and Georgia says her own GP was "really interested" in her results, many medical professionals aren't willing to submit patients to genetic testing.

Dr Dasha Fielder of Sapphire Family Medical Practice in Bondi Junction has never initiated the test for a patient in her clinical practice, but she's seeing more and more patients being referred to her from naturopaths to be tested.

"It's always a very difficult consultation for us as doctors because, to be honest with you, it's not something that we would recommend," Dr Fielder says.


"It's not something that we [doctors] would recommend." (Image: iStock)

"[The result] has very, very little significance, but it gets interpreted by other non-medical health professionals from other disciplines as being very significant and patients are put on extensive treatments."

According to the Centre for Genetics Education, MTHFR variations are very common in the general population, and there is "insufficient evidence in the literature at this stage" to determine whether there is clinical utility in testing it.

Dr Fielder takes issue with the gene assessment being initiated by patients, naturopaths, chiropractors or other non-medical practitioners, because there's "no scientific validity" to the various claims about the mutation's association with mood disorders, cancer, cardiovascular disease and other conditions.

"There is simply no scientific evidence that this gene mutation, even if you have two copies of it, will affect your health in any adverse event. If a person has had recurrent miscarriages and if they have two abnormal copies of one of these genes, this gene may have some effect. Even that is not proven," she says.

Dr Fielder believes there are only two instances where a doctor or specialist might consider testing MTHFR variants, in addition to investigating many other avenues.  (Post continues after gallery.)


"In couples who have been trying for depending on their age one or two years to fall pregnant and are unable to, or couples who have had recurrent miscarriages, which is currently defined as more than three," she explains.

"Or families where there is a multiple clotting event like DVT and pulmonary embolism, and the patient has had one of those."

In this instance, she says, the test should only ever be initiated by a GP, a medical specialist in genetics or fertility, or a hematologist who deems it necessary.

"Once you find you've got an abnormal one or two copies of this gene, you cannot do anything about it. There's no way I'm going to be testing a person for a gene and make them worry about it for the rest of their life," she adds.

Georgia says she doesn't have "an issue" with using traditional medication, and was considering exploring medical anxiety treatment with her GP just before her husband sent her the MTHFR article. "I just ended up following another road," she says.

For anyone experiencing symptoms of anxiety, Dr Fielder recommends making an appointment with a GP who can then suggest appropriate treatments, which might include medication, cognitive therapy or a combination of both.

Featured image: iStock (posed by a model not related to this story)

*Surname omitted by request