MTHFR Mutation Symptoms – Problems With Methylation and What This Means
Years ago, my dad started to get sick. He had chronic migraines, body pain, extreme fatigue and SO much more! As his symptoms became worse, they affected his ability to work, which brought on additional stresses for him, my mom and my youngest sister, who still lived at home. Finances were very tight. His health was not good. My parents both worked on ways to help my dad feel better, which included dietary changes (less sugar, no gluten, no dairy, more fruits/veggies and more healthy fats), the addition of supplements and more rest and sleep for him. Some of the dietary changes seemed to help. Some supplements seemed to help. Some of his doctors helped him and some doctors were not able to help. My parents began to seek the help of more natural-based practitioners. Ultimately, he was diagnosed with Fibromyalgia and Chronic Fatigue Syndrome.
As the years went on, my dad felt better and was able to return to work full-time. This helped to ease many burdens for my parents. After he officially retired from working, he was able to get more help for his health, which included a diagnosis and medication for hypothyroidism. He was able to get more sleep and more rest, which included help from a sleep specialist.
These health issues seem to be hereditary in nature, as my dad’s mom suffered from migraines and fibromyalgia. And me and a sibling or two have been diagnosed with fibromyalgia and chronic migraines and some other adverse health issues.
Recently, my dad had some genetic testing done and was diagnosed with a MFTHR genetic defect. He was diagnosed with both two MTHFR variations: 677 and 1298. In a nutshell, these mutations don’t allow his body to methylate properly. Specifically, if he eats anything with added synthetic Folic Acid, his body can’t use it and instead of using it for the methylation process in his body, it can accumulate in his blood and methylation processes cannot happen the way they should for him. This also leads to some adverse health issues for him and many of the issues he could have as a result of his genetic defect might explain his fibromyalgia symptoms and low thyroid issues.
What Exactly IS MTHFR?
MTHFR is an abbreviation for its longer name, Methylenetetrahydrofolate Reductase. MTHFR is an important enzyme in the body need for methylation to occur. Methylation is the transfer of 4 atoms from one substance to another (one carbon atom and three hydrogen atoms). That’s all your body has to do in order to have optimal methylation. When optimal methylation occurs, it is facilitated by SAMe, which gives away its methyl group so important processes can happen. These processes include: cardiovascular functioning, DNA production, detoxification, proper fat metabolism and cellular energy. There are additional processes your body systems go through that rely on proper methylation. All of this sounds easy, right? Well…it may not be as easy for some as it is for others.
If you have a MTHFR genetic defect and your body cannot use folic acid because it’s accumulating in your blood, your body cannot process something called 5-MTHF, which is what is needed to turn on the system that produces SAMe. Folate/Folic Acid is needed for this and when Folic Acid is bound in your bloodstream and you’re not getting enough natural Folate, this can lead to a folate deficiency and to some serious health problems.
Some researchers claim that 30% to 50% of us have a MTHFR genetic defect, which makes it impossible for our bodies to methylate. It’s inherited and passed down from affected parent to child. If you have a MFTHR genetic defect, you may not notice any symptoms. But some of us can have a lot of symptoms due to this defect.
Conditions or Symptoms You Might Have If You Have a MTHFR Genetic Defect1,3
- Autoimmune Disease
- One or More Miscarriages
- High Homocysteine Levels
- Folate Deficiency (fatigue, lightheadedness, and forgetfulness)
- Gastrointestinal Issues
- Anxiety or Depression
- Heart Problems
- Chronic Pain
- Alzheimer’s Disease
- Hormonal Problems
- A Family Member with a MTHFR Genetic Defect
Not everyone will exhibit these symptoms; some exhibit them more than others. Genetic testing can be very expensive, so if you have some of the above symptoms, you may want to test for a MTHFR mutation. For less expensive testing, you can try 23andme and Ancestry for genetic testing. They cannot tell you what your test results mean, so you can upload your results to a website called Promethease.com and also GeneticGenie.org, which is low cost or free.2
And Nutrahacker is another cool site that will help you understand your genetic testing results and can help you with specific vitamins and supplements you may need.
You can also ask your regular doctor or practitioner to refer you to a genetic specialist. As genetic testing is expensive, make sure you check with your insurance company to see if they’ll cover this, and also check to see what out-of-pocket costs you might incur. Genetic testing can also check for other methylation defects. The MTHFR genetic defect is more common and well-known, but there are other defects that can be looked for also.
If you have a MTHFR mutation, it’s also important for you to test homocysteine levels in your blood.
What Do I Do If I Have A MTHFR Genetic Defect?
Do not eat or take anything with Folic Acid in it if you have a MTHFR defect.
Most cereals and bread have synthetic folic acid in them because they’re fortified with synthetic B Vitamins, so especially avoid eating those. There are even some rice-based and corn-based cereals that are fortified with the B Vitamins, so avoid eating those, as well. If you have MTHFR problems and you eat fortified cereals and foods, you run the risk of not getting enough folate in your diet and of having too much folic acid accumulate in your bloodstream. It can raise homocysteine levels, which is associated with a higher rate of cardiovascular disease.
There are some brands of wheat-based pasta and cereals you can have, however, but being on a mostly gluten-free diet or Paleo diet can be very helpful. Always check your foods for added folic acid. This includes making sure your vitamins and supplements don’t contain synthetic Folic Acid (most do).
* If you are a cereal lover like me, all Barbara’s cereals and snacks I have seen don’t have added synthetic B Vitamins in them. You can find them here. If you do eat wheat products, you can also look for products that use different grains that are similar to common wheat, like spelt and einkorn, to see if products made from those variations of wheat are fortified or enriched with B vitamins.
Folic Acid is synthetic and can’t be used if you have a MTHFR genetic defect that doesn’t allow your body to process it. Folate is not synthetic and is naturally found in some foods and your body can use it. If you have a MTHFR defect, natural folate should not accumulate in your blood. And, you need folate so your body can go through its important methylation processes and keep you healthier.
Foods Naturally High in Folate
- Orange Juice
- Raw Spinach
- Romaine Lettuce
You could make a delicious salad to enjoy with most of the foods listed above!
Your body also needs optimal Vitamin B6 and Vitamin B12 to help assist in the methylation process, so you should also make sure you’re getting plenty of those B Vitamins also.
Foods that are naturally high in Vitamin B6 and Vitamin B12 include:
- Oily Fish
Can I Take Multivitamins If I Have A MTHFR Genetic Defect?
If you need to take multivitamins or B Vitamins, you must be very careful about which vitamins you supplement with. As written before, if you have a MTHFR genetic mutation, your body may not be able to use synthetic folic acid because it can accumulate in the blood and may not be available to help your methylation processes. Additionally, the accumulation of folic acid in your bloodstream can raise your homocysteine levels, which can cause cardiovascular problems. And if you’re taking in too much folic acid that your body can’t use and not getting enough natural folate, your body’s methylation processes can be disrupted.
This doesn’t mean ALL multivitamins are out, however. There’s one brand my family and I use, and we love it! This multivitamin brand doesn’t use synthetic Folic Acid or Vitamin B12 in their multivitamins. They use a form your body can use if you have a MTHFR genetic defect (me and my children haven’t been tested yet, but we have symptoms of a MTHFR mutation, so we’re careful about the vitamins we take and the foods we eat). The vitamins are made by Smarty Pants and you can find their multivitamins here. My kids LOVE this particular multivitamin for kids!
If you have any unexplained health problems or chronic health problems, you owe it to yourself to get genetic testing done, if it’s possible, to make sure you don’t have a MTHFR genetic mutation. Getting a genetic test, a subsequent diagnosis, and making relevant lifestyle and dietary changes could help you immensely.
You can read more about MTHFR at these Websites: