What the… is MTHFR?

You’re probably thinking that is just a sneaky way of saying something very rude! But nope, MTHFR gene mutations are most definitely real and affects 10-15% of Caucasian Americans and 25% of Hispanic Americans (Source: NIH Rare Diseases). It is particularly important to know about for women trying to conceive or pregnant as well as to know the implications on general health, too!

Folate, MTHFR, Green Veggies

Science first and then the nutrition advice, this is so you have an understanding of the condition and then an insight into the role of nutrition in that condition.

Let’s do this!

What the… is MTHFR?

MTHFR stands for Methylene-Tetrahydrofolate Reductase – I know it’s a mouthful! It’s actually an enzyme meaning it uses up something (called substrate) and turns it into something different (called a product).

But what does it do, you ask?

So you may recognise the word, folate, somewhere in that biochemistry jargon mess of a word! Quick recap, folate (or vitamin B9) is a water-soluble vitamin primarily found in green foods such as spinach and also in breakfast cereals and breads (in Australia).

All adults need 400 micrograms of folate per day and pregnant women need 600 micrograms per day, with certain medical conditions requiring higher doses – this should be tailored by your dietitian.

Folate in Cereal

FYI folate and folic acid are not metabolised the same by the body, folate is a lot more efficient in being activated!

Back to MTHFR, it is the enzyme involved in the last step (of the many steps) in activating folate we get from food, into its active form. This allows it to go along and do its job of maintaining cell health by helping it make new genetic material. Folate is also critical for a process called methylation, which can affect our genetics but also activates lots of different reactions in the body too. It’s kind of like a light switch, it has the ability to flick different reactions and genes on or off – so pretty important stuff!

The active form of folate is also involved in blood cell formation and for getting rid of a homocysteine, a by-product which is involved in the breakdown of proteins and a by-product of this whole process that needs to removed from the body,

Confused? Basically, MTHFR is important in the process of vitamin B9 (or folate) activation which has a number of flow-on effects in the body. If the MTHFR gene expressing the enzyme is mutated and has reduced or completely loses its function, there are potential health consequences.

How do I know if I have the MTHFR mutation?

The signs and symptoms of MTHFR mutations are not all that obvious because folic acid and folate are so involved in the process of methylation which affects cells and genes EVERYWHERE. You’ll find below some of the consequences of MTHFR mutations which may indicate a potential for folate blood tests and genetic testing.Genetic testing is only offered with Medicare if you have a substantial history and indication for MTHFR

This area of science is so controversial in the medical world, genetic testing often only occurs after an adverse outcome such as miscarriage, stillbirth, trouble conceiving, a previous birth with cleft palate, neural tube defects or congenital heart abnormalities, family history of high homocysteine or a MTHFR mutation, high fasting homocysteine, stroke with high homocysteine levels.

Otherwise, a blood test looking for elevated folate levels may indicate either over-supplementation or over-consumption of folate-rich foods or potentially a problem in the folate metabolism pathway, it is important to work with your medical team to work out which one it is through appropriate testing!

If you’re worried, please speak to your doctor!

What can happen if I have the MTHFR mutation?

There are 34 known mutations in the gene that encodes for the MTHFR enzyme. The gene sits on Chromosome 1 and two key variants are tested for in genetic testing, because the other 32 have limited research.

The loss of the enzyme function will depend on the variant of the mutation you have and whether you have 2 copies of a mutation from each of your parents, or just one from either parent.

Having an MTHFR gene mutation can contribute to a whole range of health problems, again, severity is going to depend on how much functionality has been lost.

  • Elevated homocysteine levels – remember that by-product I mentioned? Without MTHFR working properly, the body cannot get rid of this waste product during the process of protein metabolism. Essentially homocysteine starts to build up in the body instead of being disposed of. High homocysteine levels is independently associated with an increased risk of heart disease & stroke – YIKES!
  • Folate deficiency – because folate isn’t being activated or not as readily, your cells aren’t actually getting the folate they need to keep them healthy, which in severe cases can lead to a form of anaemia. This is particularly a problem when we don’t get ENOUGH folate from the diet (which FYI most of us don’t!)

Most people don’t get enough folate from foods in their diet

MTHFR and Conception and Pregnancy
  • Neural Tube Defects – if you’re a woman living with an MTHFR mutation and are unaware and take a normal prenatal vitamin with folate, again, depending on the level of enzyme function loss, limited folate and folic acid will be converted into the active form. This active form is required for the formation of your developing baby’s neural tube. Without folate or folic acid, neural tube defects are more likely to occur including spina bifida.
  • Accumulation of folate & folic acid in the blood stream – if the MTHFR mutation is present, there will be a “bottle-necking effect” meaning if you’re supplementing with folic acid, it almost becomes “stuck” in the blood and unable to be converted into the active form that your body needs! This is particularly a concern in women taking prenatal vitamins containing folic acid and also eating folate-rich foods such as fortified cereals and breads. More research is occurring in this area, however there has been some tenuous links between high serum folate levels and autism spectrum disorder as well as asthma.
  • Miscarriage – although a miscarriage often goes unspoken, it affects up to 1 in 4 pregnancies and can be absolutely devastating. Folate is so critical in the formation of the genes, if the developing embryo does not get enough at this critical stage, it may contribute to a miscarriage. If you have a history of miscarriages, it may be worth considering genetic testing or at least a folate blood test.

If you have a history of neural tube defects, miscarriage, autism spectrum disorder, asthma or tongue ties with previous births or in the family, it’s a good idea to ask your GP or obstetrician for a blood test to check your folate levels aren’t too high (or too low).

What foods and/or supplements can help if i have MTHFR?

So should you be eating more folate-rich foods? Well, pretty much if you have or haven’t got MTHFR, more folate-rich foods are a good idea, because they’re all nourishing foods for a million other reasons too!

Examples of folate rich foods include:

  • Dark green or leafy vegetables such as spinach, asparagus, lettuce, broccoli, brussel sprouts and bok choy
  • Avocados
  • Lentils, peas & legumes
  • Fruit such as mangoes and oranges
  • Fortified breads and cereals (e.g. Weetbix and all standard breads, except organic or if you make your own) – these are fortified with folic acid though so if you do have MTHFR consider the amount and other supplements that you’re taking with a dietitian.
Folate Rich Foods

Again, this area of nutrition is lacking in evidence, however eating nutritiously and folate rich foods over folic acid supplementation (as it’s more likely to be converted into the active form). The idea is that the more folate you eat the more chance there is to get some into its active form. Rich sources of folate include dark green vegetables and leafy greens, citrus fruits, legumes and beans, fortified breads and cereals

If you know you have an MTHFR mutation, and you’re trying to conceive, it’s best to seek advice from an Accredited Practising Dietitian and consider supplementing separately and go for the active form of folate, labelled as follinic acid or methylated folate, this will ensure that you’re getting the active form and preventing a back-up of folic acid in the bloodstream. Avoid folic acid supplements as it is metabolised differently to food folate and isn’t likely to lead to more of the active form. All women trying to conceive and during early pregnancy needs to supplement folic acid or follinic acid to meet their needs to prevent neural tube defects, seek individual advice from a dietitian

In theory, you could also support the other B vitamins in the process of folate metabolism, like B2 (riboflavin), B6 (pyroxidine) and vitamin B12 (cobalamin) by consuming dairy foods for B2, protein foods, cereals, veggies and beans for B6 and any animal product for B12.

Remember, this is general advice only and a lot of work in the area of MTHFR is of poor quality and rife with misinformation. Seek the advice of your medical team and individualised nutrition advice from an Accredited Practising Dietitian in your local area. Book in with me here.