MTHFR mutation and supplements to take

I am compound heterozygous (heterozygous for each of c677t and A1298c), and have my share of symptoms, although nothing compared to homozygous c677t sufferers (mostly anxiety and energy in my case). I find there's a lot of bad information on the web, and am relying now on the Dirty Genes book by Dr. Ben Lynch, notably for which supplements to take and how to use them. I dislike his somewhat bombastic writing style, but he seems to be the only one I've found with accurate and thorough medical info. You have to be careful with supplementation for MTHFR; the wrong B vitamins (especially the wrong folate) can make matters worse, as can the wrong dosage, although I've found that dosages are something I have to arrive at by careful trial and error. Hope that helps. - Mitch G

@mitchgord, you are absolutely correct! My daughter is a homozygous c677t sufferer and so is my grandson. There is a lot that is not understood about the MTHFR gene mutations and there is a lot of incorrect information out there. The advice seems to be that it is not necessary to test for the MTHFR gene at all as the treatment plan would be the same... and then the advice is to test for homocysteine in blood and to fill up on B vitamins if the homocysteine is high. The problem with this is that the people giving this advice do not seem to fully understand the job of MTHFR and how methylation actually works. If you for example have two defective copies of the C677T mutation (which you will only know if you do in fact do the gene test), then your body struggles with methylation, meaning it cannot properly use the B vitamins. Taking the synthetic folic acid, that is not only in supplements, but also widely added to fortified foods like bread flour and breakfast cereals, cannot be used by the already broken methylation system of the homozygous c677t sufferer and as you say, it makes things even worse as it interferes with the little bit of folate your body may still be able to metabolize... But this folic acid will be picked up in blood tests before being discarded by the kidneys, so the patient looks like they are not B9 deficient at all, while in actual fact, they are. B12 is another such vitamin. B6 is even worse, because even though it is water soluble and should be leaving the body via the kidneys, it actually takes a long time to do so and therefore tends to build up in the blood... to toxic levels which causes all sorts of nasty, nasty symptoms. There are actually B vitamins that can be prescribed, that are easier for MTHFR sufferers to absorb and metabolize, but they are not the ones being prescribed! Also, these synthetic B vitamins can potentially mask what is going on with the homocysteine levels, leading to misdiagnosis. And if the methylation system of the body is broken, it leads to all sorts of issues, issues that are prevalent in modern life, not well understood and for which so many patients are being gaslit, told the pain and fatigue is imagined, in their heads etc. A very recent study at Tulane University in Florida has shown that there is a strong link between the MTHFR gene and hypermobile Ehlers-Danlos Syndrome (hEDS). It would explain so many of the symptoms of EDS patience, the pain, the chronic fatigue, collagen issues, bone issues, IBS etc, etc, etc. Another recent study has found that ME patients, though they had normal blood homocysteine levels, all had elevated homocysteine in their spinal fluid! I believe that there is a huge under reporting of the MTHFR gene polymorphism and GPs have no idea of what to look for and what the results mean. I think if this part of medicine was better understood, we would find answers to many of our unexplained modern-day illnesses. Living with chronic pain and fatigue and all the other symptoms, is soul destroying….

@mimmi - welcome to Mayo Clinic Connect.

I'm wondering how your daughter and grandson were diagnosed with MTHFR mutation and how they have been doing lately?

@lisalucier, my mother and one of her sisters were hypermobile and had several unexplained things happening, but of course no one understood EDS back then. I myself am not hypermobile, but have also had a few things going wrong (such as my uterus tearing at end of second pregnancy). Then my daughter came along with a multitude of issues which really kicked in during her late teenage years and got worse with every pregnancy, all unexplained. Chronic pain, chronic debilitating fatigue, bones that easily break, hair falling out, terrible stretch marks, other skin issues, IBS, multiple prolapses, brain fog, and lately she has been quite anxious. The list is just too long, and doctors have no answers. Eventually she was diagnosed with hEDS and two of her children are also hypermobile and one already struggles with IBS at age 8. That gives it a name, but still no answers as to why and how to make things better for them. As a mother and grandmother and now retired, I have made it my mission to read as much as I can so I can understand and try to help. My daughter, my one grandson and I all took Direct to Consumer DNA tests as it was impossible to get DNA testing done through the medical system here in NZ, even if you are prepared to pay out of pocket. We then uploaded the test results to Promethease to get a report that leads to more information on potential health issues. I spent hours on it but without knowing what to look for, it is difficult. Until I stumbled onto an article on the internet, from March this year on “The Prevalence of MTHFR Polymorphisms in Patients With Hypermobile Ehlers-Danlos Syndrome and Hypermobile Spectrum Disorders in a US Hypermobility Clinic”.
In short, a dr at Tulane University has found a link between hypermobility/hEDS and the MTHFR gene mutation. This is big as there has never before been a gene linked to this affliction. I then went back to our Promethease reports and found that I have one copy of the MTHFR C677T morphism and my daughter and grandson both have two copies of it. This explained so much! It also pointed me in a specific direction to concentrate my own readings on. It is all still very new for us and still so much to learn. As a first step, my daughter did blood tests, checking homocysteine levels, B6, B9 and B12. Her results came in early this week and the most alarming thing is the toxic levels of B6. The report says she is probably overdosing on supplements, when in actual fact she is taking no supplements at all at this stage. We will be doing a follow-up test before she goes back to the doctor, but now we will at least be able to go armed with information and results already in hand and hopefully, get help and some relief. Sadly, where we live, there is very, very little knowledge around any of this and especially women are constantly fobbed off with comments like "you need to practice positive thinking", "manage the pain with happy thoughts", "the pain must be psychosomatic because there is nothing wrong with you". So yes, a 23andMe test, two Ancestry DNA tests, Promethease reports, a hEDS diagnosis and many hours of reading and separating the wheat from the chaff. And there is a lot of "chaff" out there!

I have tested positive for being double heterozygous for the MTHFR gene mutation. I can't find much info on this particular mutation combination, but I have been taking 3,000mcg of l-methylfolate and wonder if I should be taking more. I suffer from depression and anxiety, fibromyalgia and various muscle aches and pains.

I too am homozygous for the MTHFR gene the supplements I take are Homocysteine supreme, vitamin D3, magnesium citrate, 50mg CBD and hair, skin and nails supplement.