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

MTHFR – say what?

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?

The blood test results are in paleo weight loss slimming diet-min

The blood test results are in…

If you’ve been following my series on my weight loss struggle – and discoveries, you’ll have read how I’ve struggled to lose weight (despite my paleo diet and exercise), the tests I had done and experts I saw, my DXA body scan and how wildly out my metabolism turned out to be. This week it’s time for the results of those tests!

In Australia the test results all seem to be delivered to you at home – which is great as you don’t have to wait until your next appointment to get the results from your doctor.

Because I’d had genetic testing and various other tests, they all arrived at different times. The blood tests show your result, against a reference range which shows the range of average results they receive. This is great, but who tends to have blood tests? People who aren’t well. So in theory this means you’re comparing your results to people who aren’t in optimal health, which is perhaps not an ideal marker…

The blood test results are in paleo weight loss slimming diet-min

I quickly saw from my results that my SHBG (Sex hormone-binding globulin) result looked high, so distracted myself by researching this. Apparently a high result means the SHBG binds with testosterone, which means a low free testosterone count. Everything else looked fine, to my didn’t-go-to-medical-school-mind, so I assumed the problem was hormonal and eagerly awaited my appointment to see what the doctor would suggest to remedy this.

I didn’t get the result from the stool samples sent to me at home, but I knew that test was a complete waste of time, so wasn’t worried about that….

The doctor’s surgery

My doctor’s appointment finally came round and I knew exactly what we were going to talk about. The SHBG result and how to change it.

I couldn’t have been any more wrong.

Blastocystis hominis

I was completely floored when she said “You have a parasite, you must be exhausted!” I only took that test to tick all of the boxes. I’ve had no symptoms to indicate a parasite (especially not the sudden unexpected weight loss symptom. Why couldn’t I have had that symptom?), so would have bet my life savings on not having had one. It turns out the test results detected moderate numbers of a parasite called Blastocystis hominis which has apparently been living in my intestines. It’s contracted by accidently swallowing something that’s been contaminated with it. Perhaps even organic produce that hasn’t been washed properly? Or touching a door handle after someone else? Or drinking contaminated water or ice?

It can linger for many years, during which time I’ve backpacked around a lot of Asia, swam in rivers and lakes, eaten from street Vendors, shared food with other travellers – I could have got it from numerous places. I could just as easily have got it from a posh restaurant. I guess I’ll never know…

In terms of treatment, I could go the herbal route (through my naturopath) or take a specific antibiotic based treatment. The herbs take a long time and had a 50% success rate. The success rate of the drugs was over 90% and takes 10 days. Given that I just want to fix things and have more energy, I opted for the antibiotics – something I’m usually very against and haven’t taken for years. I also found out about a drug called Biofilm defence, which if taken just before the antibiotic apparently helps attack the parasite wall making the antibiotics more effective.

Are you a vegan?

Moving onto the blood test results, the doctor’s next comment was “Are you a vegan?! I only ever see Vitamin B12 and Iron levels this low in Vegans!” Whilst she was speaking she got a vitamin B12 injection out of the freezer to give to me then and there… Of course I’m not a vegan! I eat a decent amount of good quality meat – how can this be?! I do tend to eat more white meat and fish over red meat, but I would say I still have red meat a few times a week. It just makes no sense! Again, she commented on how I must be so tired all the time with not only the parasite, but being so deficient in Iron and Vitamin B12. Yes, I am always tired and worn out, but I’m always very busy too – isn’t this how everyone feels? I also think perhaps you get used to how you feel, and it can be hard to realise it isn’t normal. Wouldn’t it be interesting to swap places with your friends for a day, just to see what their version of normal feels like…

It doesn’t stop there…

There were also a few other items of interest from the test results….

My Homocysteine level also seems slightly elevated. Would you believe this can result in clots – i.e. pulmonary embolisms! This seems to be strongly linked to my vitamin B12 deficiency, interesting…

Ferritin was also low, given that this is related to iron storage – and my iron is low, this is hardly a surprise.

My copper levels were also high, and zinc low. These are inversely correlated, so increasing my zinc should help. After the antibiotics, I’m going to be taking the supplement Zinc piccolinate, which should help address this imbalance.

Once I finish the antibiotics I am also going to be starting a course of liver detox & immune herbs that the nautropath has prepared for me.

Quite a lot and I haven’t even got to the genetic results yet (I’ll open that can of worms next week….)