Maybe you’ve been reading about this tangle of letters – MTHFR – that the health world seems to be caught up in lately. Maybe you’ve been wondering what it’s all about. Well, the MTHFR gene contains DNA instructions for your body to produce an enzyme called, wait for it: MTHFR. If you want the long name, the enzyme is technically called methylenetetrahydrofolate reductase. There is a lot of fear and misinformation going on about the MTHFR gene mutation in the big wide web, so it can be hard to know whether or not this is anything you should worry about. MTHFR is not a health disaster to be feared, but it is something that is worth exploring. Let’s get to it!
What is the MTHFR enzyme?
This enzyme turns normal run-of-the-mill food folate (vitamin B9) into 5-Methyltetrahydrofolate (5MTHF) which is the “activated” form of folate that your cells actually use in their daily activities.
The folic acid that you take in supplements and the folate in your leafy greens is completely useless to you unless MTHFR activates it. So if you have a dysfunctional MTHFR enzyme, you can be left with a functional folate deficiency all the time.
Your blood folate levels might look fine, because the synthetic folic acid you eat builds up in your blood. But it cannot be used. This happens to anyone who consumes too much folic acid, but it happens much more if you have the mutated gene because the MTHFR enzyme doesn’t work as well if you have the MTHFR gene mutation. The mutated enzyme does still work a bit, but in most circumstances it doesn’t do the job well enough to supply adequate active folate to the cells and clear synthetic folic acid from the blood.
In an ideal world with minimal toxin exposure, low stress and a perfect, high folate diet, a MTHFR mutation may not cause any problems. But sadly we do not live in a perfect world.
Why is this important?
Folate is supposed to help with DNA copying and repair, chemical breakdown and neurotransmitter metabolism. Any processes where cells need to be made (pregnancies, new blood cells, immune cells, gut lining cells) or where chemicals need to be broken down or where neurotransmitters are involved (e.g. making chemical messengers within the brain) can be impaired if you have an MTHFR mutation. That’s a lot of processes!
What does that lead to, practically speaking?
These mutations are associated with many conditions/diseases – some of which are well understood by the medical profession; others of which are only yet being uncovered so many doctors haven’t been educated about them. These include:
- deep vein thrombosis and other clotting issues, such as heart attacks, strokes, and pulmonary embolisms;
- miscarriages, fertility problems;
- impaired immune system and allergies;
- fibromyalgia/muscle pains, joint pain;
- digestive problems,
- food intolerances, chemical sensitivities, bad reactions to drugs
- heart murmurs, high blood pressure
- birth defects especially neural tube defects (spina bifida), cleft palate, tongue ties, down syndrome
- autism and ADHD
- migraines and epilepsy
- insomnia, anxiety and depression
- memory loss and Alzheimer’s disease
In addition, the extra useless folic acid that runs around unmetabolised in the blood increases the risk of cancers, especially bowel and breast cancers.
This is a long and seemingly unrelated list of conditions because folate is involved in a MASSIVE number of processes in our body and any (or many) of these can go astray if you are functionally folate deficient because of your MTHFR gene mutation.
So do you really want to know if you have the MTHFR Gene Mutation?
Because it’s completely fixable. If you take the right steps, you can reduce your risk of any of these diseases back to normal, without taking a whole lot of medications.
You need to provide folate to every cell of your body – often, but not always, through supplementation of a specific, activated form known as L 5- MTHF. There are also some other nutrients you need to take to support this, and lifestyle changes you can make to reduce your body’s demand for folate. Working with a knowledgeable practitioner to do this is important, as MTHFR is not the only gene that may impact your use of folate, so there is no ‘one-size-fits-all’ treatment.
Treating the MTHFR defect and the connected metabolic pathways can sometimes completely reverse medical symptoms – even in some very complex conditions. If you don’t know if you have the mutation, you can’t do anything about it.
Do you need to get tested, even if you feel fine?
It is a very good idea to get tested if you have a family history, a relative’s genetic tests or symptoms that indicate you may have the mutation. Some people have no symptoms at all until they die of a stroke.
That’s a tragedy, given that that is preventable.
I shy away from recommending a stand-alone MTHFR gene test. MTHFR is only one gene – there are hundreds of genes that can affect how folate is used and broken down in the body. Mutations on these other genes can worsen or help compensate for your MTHFR mutations, so I recommend looking at a full genetic panel, rather than focusing in on the MTHFR gene alone. This gives much better results. The good news is that a broad genetic panel can be done for under $250AUD. That’s not much to pay for a huge quantity of information that will be useful for your whole life, and may help your relatives as well (seeing they will have similar mutations to you.)
Can you just treat it as though you have the mutation and not bother testing?
Because we are dealing with 2 different kinds of mutation and the difference in treatment between having one copy of the mutation or two is quite significant, it is important to test. Plus, there are other things to test as well.
MTHFR mutations can cause raised homocysteine.
This is one of the major ways that MTHFR defects can cause clots, heart attacks and memory loss, because high homocysteine damages blood vessels. A range of blood tests, including homocysteine, tell us how much the mutation is affecting you. Some people have no ill effects whatsoever. It is important to work out what is going on in your body!
For example, I have had one patient – a young, healthy-seeming guy with only one mutation – test his homocysteine and find it WAY too high. By knowing and addressing this we potentially prevented an early death.
Once I have my result, how do we treat?
You need someone to help you develop an individually-tailored plan to support you for your symptom picture and genetic profile.
There is no one-size-fits-all treatment so it is important to see a practitioner with your results.
So What Happens Next?
If you have no MTHFR-related symptoms and homocysteine is normal, you may be able to get all the nutrients you need from a carefully balanced diet and supplementation may not be required. Other people may require extensive support before they are even able to tolerate 5-MTHF without severe side effects.
Everyone is different, so if you do have this mutation, please do not rush out and start taking folate.
Some people have learned that the hard way – don’t let yourself be one of them! Make an appointment and get proper advice.