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MTHFR and COMT SNPs and what they mean for your health

Discussion started by Maff 12 years ago

Hi all,


Last year I had genomic testing done for common SNPs including MTHFR, MTRR and COMT - all vital for influencing enzymes involved in the methylation cycle.


My SNP results showed I am homozygous for MTHFR (C677T & A1298C), MTRR (A66G) and COMT (V158M) - so essentially the worst combination of gene variants in terms of methylation capacity...


For a bit of context I was diagnosed with M.E./Chronic Fatigue Syndrome 20 years ago at the age of 12. I also suffer badly from adrenal fatigue and mood and sleep problems.


After getting my results I did a lot of research and that went a long way to explaining why I would suffer from these secondary conditions in addition to ME/CFS. These papers will make interesting reading for anyone with these SNPs, heterozygous or I wanted to share them. Take a look:





If anyone wants to share their SNP results relating to the methylation cycle and what illnesses/symptoms they suffer from that would be great!


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Hi Michellina, thank you for sharing your results with us. I like to think this old post has helped a few people with their own results but your comment has also highlighted to me an important omission that I'll rectify now - a book written by Dr. Amy Yasko who is the most knowledgeable person I have come across when it comes to the methylation cycle genes themselves and SNPs in related pathways that lead to the likes of VDR, MAO, BHMT and AHCY.

The book is titled 'Autism: Pathways To Recovery' but it is by no means an Autism-only text - it will be of huge benefit to those suffering from any environmental, invisible or mystery illness who has had genomic testing and is attempting to decipher the results. I urge you and anyone else in a similar position to get a copy as it covers every SNP commonly tested for, explains what each one does, and how they have knock-on effects in other genes and the enzymes the control. Dr. Yasko provides diagrams for each metabolic pathway and most importantly - recommends supplements to compensate for each SNP.

I would point out however (and Dr. Yasko does also) that genomics is a complicated science and not entirely understood at this point so it is extremely wise to work with a knowledgeable medical doctor if at all possible. Still, at least her book goes a long way to explaining why we might be experiencing particular symptoms, or indeed specific illnesses based on thorough SNP genomic test results.

In your case you have a lot going on but as you have pinpointed - the VDR is extremely important since vitamin D is actually a steroid hormone and has huge effects on immune system function, neurotransmitter synthesis and myriad other vital influences on overall health.

It's somewhat good news that you are "only" heterozygous for the genes you've been tested for but this can still hugely impact your health, particularly when you have the mutations in so many key methylation cycle and related pathways.

Please search for the book on Amazon or Google Dr. Amy Yasko's on website as you will find a huge amount of useful information. This goes for anyone who has had genomic testing but doesn't really know what to do with the results!

I have not had the VDR testing myself but my own illness is hugely affected by the changes in seasons and sun exposure here in the UK so I strongly suspect I too have issues there. I wish you all the best in creating your safe environment Michellina and hope the Australian Spring brings you some relief. If you need help with anything else you know where to find us - it's usually best to post in the forums where regular visitors are most likely to reply. You can of course also message me personally, I'm here to help.
Best wishes!
8 years ago
Hi Maff, I've got the heterozygous Mthfr c677T and the Mthfr A1298C. And heterozygous for compt V158M, Compt h62h, Mao-A R297R, bhmt-02, bhmt-08, AHCY-19 and AHCY-01

My homozygous are VDR bsm, MTRR a66g, MTRR A664A.

I'm not sure what this means as far as methylation goes apart from its good I'm hetero and not homo with Mthfrs. I'd like to see more discussion on this. Perhaps it will supply the path to better health. I'm really crook right now, and I've only done the testing to see if I've got methylation going on strong or not. I can see I've got the VDR, which I think, from memory, might mean I don't store/process vitamin D well. If I sit in the sun (it's the start of spring here in Australia) for a couple of hours, I feel great. I don't have the resources for a doctor to look at my results as I'm trying to build a safe home, but it's nice to think that o may be able to have some control over how my body reacts to the environment rather than trying to control the environment most of the time.
8 years ago

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