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 many people are 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 will usually 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 a folate deficiency. That’s a lot of processes! MTHFR mutations can increase your risk of a functional folate deficiency, which is why they can be important.
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?
Let’s explore the yes case:
You might want to know about your MTHFR gene mutation because 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. If you know you have the MTHFR mutation, you also know that you might be prone to a functional folate deficiency.
Treating a functional folate deficiency 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. Having said that, you can potentially get the same results by testing for folate deficiency using a number of different blood markers to get an accurate picture. This is one route that many people take because it gives a current picture of folate levels, rather than just a static picture of genetic potential.
Let’s explore the no case:
You may NOT want to know if you have the MTHFR gene if you have health anxiety, or are inclined to worry and stress about things, especially if you might feel defeated and ‘diagnosed’ or boxed into thinking that you have an incurable weakness.
You might also not want to know about MTHFR if you haven’t yet addressed the other more important health issues that we all face – issues such as toxin exposure, gut bacteria, poor diet, stressful lifestyle, lack of sleep and spiritual problems of every kind. All of these things are FAR more important to your health than any gene mutation, so addressing them first may restore you to excellent health without ever needing to stress about a gene test.
Do you need to get tested, even if you feel fine?
It is a good idea to get something tested if you have a family history, a relative’s genetic tests or symptoms that indicate you may have the mutation. 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. It is impossible to know if you have been affected in this way without testing for homocysteine. Some people have no symptoms at all until they die of a stroke.
That’s a tragedy, given that that is preventable.
But 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. An assessment of your actual folate supply, homocysteine and methylation status is of much greater use.
If you do have high homocysteine, it is fine to assume that this might be because you have MTHFR. You do not need to confirm with genetic testing if you don’t want to, but you should follow up with regular homocysteine tests if you levels have ever been high.
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. Had we just tested his MTHFR and not checked his homocysteine however, we may not have made any difference to his health. In fact, we could have relied on his MTHFR test, showing only one, usually minor mutation, and told him he was ok. We would have been wrong. It is important to get the right tests.
So….If your homocysteine is low, your B12 and folate levels are adequate and you have no health problems, then it’s fine to assume that either you don’t have the MTHFR mutations, or if you do, that it’s not affecting you. If these tests are fine and you feel well, I see no reason to test for MTHFR genes.
Once I have my result, how do we treat?
If you have tested for homocysteine, folate levels and other biochemistry markers and your results are not good, 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.
If you have simply done the MTHFR test without any testing for the things it can impact, you should go ahead and check homocysteine, B12, Active B12, Red Cell Folate and perhaps other tests recommended by your practitioner. A plain MTHFR test result without body chemistry testing is fairly useless, and we certainly don’t treat you based on a gene test alone. We treat people and their health conditions, not genes.
So What Happens Next?
If you have no MTHFR-related symptoms and homocysteine is normal, you are probably able to get all the nutrients you need from a carefully balanced diet if you keep your toxic exposures low and your lifestyle sensible. If this is not the case for you, a focus on diet, environmental exposures and lifestyle is the first place to start. At some point supplements may be helpful. Some 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.