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MTHFR genetic testing DNA paleo mutation methyl-tetrahydrofolate reductase heterozygous 1298C 677T weight loss-min

MTHFR – say what?

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If you've been following my series on investigating my inability to lose weight, you’ll have read about my blood test results last week. (Catch up on the other posts in the series here, here , here , here and here). Well, the other component to those test results was the genetic results…

I knew these results were fine too, as I’d scanned through them when they arrived in the post and didn't see any words like “fault” or “mutation”. Wrong again. That innocuous word “heterozygous” in the results column, does not mean “nothing to see here, move on!”

MTHFR genetic testing DNA paleo mutation methyl-tetrahydrofolate reductase heterozygous 1298C 677T weight loss-min

Introducing MTHFR…

One of the gene sequences they tested for was the gene MTHFR (methyl-tetrahydrofolate reductase). Yep, I'd never heard of it either. There are more than 50 known MTHFR variants, and they seem to only test for a few of these (with 677T and 1298C being the most common). It turns out I am heterozygous for MTHFR 1298C. Heterozygous means I have one affected gene and one normal gene, whereas homozygous would mean both genes are affected. Being heterozygous, it’s quite possible I could have no issues whatsoever, but having looked through the list of symptoms and seeing pulmonary embolisms feature, it’s clear I am affected by this mutation.

Having had two unexplained “random” pulmonary embolisms and none of the risk factors (as I wrote about recently) I am shocked and upset that this was not uncovered before. I had the genetic tests before and didn't see them myself, but was told they were fine. It’s clear to me now that they would only have told me if I has a homozygous result!

The MTHFR enzyme works in a process called the methylation pathway, and basically seems to explain why my B12 (and therefore Iron) are so low, as a mutation means B vitamins aren't processed properly. I'm no scientist, so I highly recommend reading this excellent MTHFR website. The treatment is to take B12 supplements, but in the active form of Methyl B12, and I've also started taking another supplement called “Methyl-Guard Plus” that works with the B12. Luckily iherb sell both, so I was able to get them and start taking them quickly.

Interestingly fortified folic acid or folate foods have a further detrimental effect on this pathway and are to be strictly avoided as you’re not able to process they folic acid. The folic acid then has no where to go, so causes inflammation and increased homocysteine levels. I can’t help wondering how many expectant mothers diligently taking folic acid also have MTHFR mutations and are doing a lot more damage than good with these well intended supplements…

In a few weeks time I'm going to have a repeat of all of the tests (and a few extra) to see how the treatment and supplements have been working. Depending on the results I'm also going to look into having further testing into some of the other 50 known MTHFR variants. After my Pulmonary Embolism experience I want to know as much as I possibly can about my health and genetics, to avoid that ever happening again.

How is this related to my weight?

On the surface, it’s not completely clear – there is just so much going on. But given how many things seem to be linked, the doctor and naturopath seemed to think it likely that this is all related to my weight. If things aren't working properly, it makes sense that my bodies process for fat loss is not efficient either. And now that I have several biochemical reasons as to why I am so frequently tired – perhaps this is also related to my low metabolism? A low metabolism must have a significant bearing on weight loss…
Have you had genetic testing? What did you find out – and what have you done about it since finding out?

Vitamin B9 Folate & the Paleo Diet do you get enough deficient signs symptoms sources supplements-min

Vitamin B9 (Folate) & the Paleo Diet

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Growth and development – this is what Vitamin B9 is most vital for. Growth and development actually comprise a whole set of processes in the human body, with cell division and DNA production perhaps the most important ones, and so Vitamin B9 becomes especially important during pregnancy, lactating, and early growth stages. What is more, it promotes nerve function, helps to prevent osteoporosis-related bone fractures, and can play a role in the prevention or treatment of a number of medical conditions: anaemia, cervical tumours, depression, glossitis, insomnia, myelopathy, ovarian tumours, restless leg syndrome, schizophrenia, uterine tumours.

Unfortunately, Vitamin B9 deficiency is one of the most common nutrient deficiencies, suffered often by pregnant women, by chronic alcohol abusers, and by those with poor nutrient absorption disorders like ulcerative colitis. How can you recognise a deficiency? This can by characterized by muscular fatigue, insomnia, depression, forgetfulness, irritability and gingivitis or periodontal disease.

Vitamin B9 actually comprises two compounds – Folate which is found in natural foods, and Folic Acid which is synthetic. Though similar, Folic Acid that is used for fortifying processed foods is absorbed to nearly half the level of Folate. Therefore, it makes much more sense to focus on whole foods to get adequate Vitamin B9 consumption, and for this the Paleo Diet is a great solution, as it promotes a natural way of eating in the name of long-term vitality and health.

How much Vitamin B9 do you need in your diet?

The daily recommended amount of folate is 400μg. Since it is easily excreted from the body, excessive intakes are very difficult to reach.

Vitamin B9 Folate & the Paleo Diet do you get enough deficient signs symptoms sources supplements-min

Which foods can you get Folate from?

  1. Liver – Whichever your preferred choice of animal, you’ll get a great amount of Vitamin B9 from it. Turkey liver, however, is the richest source, with 173% of your daily need of Folate in just 100g.
  2. Spinach – leafy greens are another fantastic source for Vitamin B9, with spinach as the forerunner. In 1 cup of cooked spinach, you’ll get 65% of your daily need of Folate.
  3. Beets – If you’re looking for a Folate-rich vegetable, beets are your best friends. 1 cup of raw beets covers 37.1% of the daily need of Vitamin B9. Beet salad, roasted beets, beet soup – the choices are endless!
  4. Romaine lettuce – When preparing a green salad, opt for romaine lettuce. 2 cups of this crunchy salad will provide 32% of your daily Folate need.
  5. Asparagus – In springtime, one of the best sources for Vitamin B9 is asparagus, providing 37% of your daily need in a 100g serving.
  6. Papaya – For an exotic dessert, reach for a papaya. In just one fruit, you will get 28.9% of your daily intake need of Vitamin B9.
  7. Avocado – Yet another reason for having a daily avocado is its Folate content. One cup of mashed avocado (time for guacamole?) amounts to 29.6% of your daily need of Vitamin B9.
  8. Cauliflower – For a Folate-rich change to those beets, reach for cauliflower. In 1 cup of raw cauliflower, there’s 15.2% of your daily Folate need. And it’s a delicious snack when eaten raw!

What else do you need to know about Vitamin B9?

Vitamin B9 is not very stable, and its content undergoes a relevant loss in the case of non-airtight storage, overcooking and reheating of food. In addition, green and black teas counteract the absorption of the vitamin and thus should be minimized if you focus on Vitamin B9 consumption. However, animal products that contain folate are more stable when it comes to cooking than plant products, so you shouldn’t have a problem if you focus on those. Luckily there’s no lack of them in the Paleo Diet!

So, do you think you should focus more on Folate consumption in your food? Maybe you have some experience related to it? Please share it in the comments!