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The MTHFR gene: Have you run into this?

A relative in the States was just on the phone updating me re progress in the diagnosis of another relative's autoimmune condition. He is being investigated for chronic multisystem autoimmune symptomatology including peripheral neuropathy & muscle weakness etc. I've long suspected he has a connective tissue disorder.

Apparently he recently learned that he has one version of the MTHFR gene, and that this may help with his diagnosis. I googled MTHFR (you can imagine the nickname people have given this gene: please don't be shocked if you google it too...this isn't some cranky least I think it isn't). Apparently there are variations of this gene. Perfectly healthy people can have the MTHFR gene too. My impression is that this subject is only just beginning to be researched

Anyway, I'm wondering if anyone on here has heard of this gene & its apparent implications. Here is a little excerpt from one link:

This gene plays an important, significant role in the methylation process in your body and is necessary for the production of nutrient enzymes.....this particular gene...causes your body to have a very hard time detoxing, and makes you have a predisposition to having many other illnesses and ailments.

The lists of relevant illnesses I found during my v brief online search include lupus & connective tissue disorders

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Had to Google that!! Very interesting! I would love to be around in 100 years to see how much progress is made in autoimmune and CTDs....

On my dads side we have several children with autistic spectrum disorders, MS, diabetes, and on my mums, reynauds, RA, hyperthyroidism, psoriasis and PsA...

I seem to have MCTD, and my son has a personality disorder and bipolar..... Very interesting there seems to be a genetic clue to all of this....

I had felt our family's MS/ Autoimmune stuff was northern hemisphere/vit D stuff, but this is another slant.


I think we'll see A LOT becoming clearer as research advances in this area...and I bet results come in quite quickly, say in the next 20 years...


Very interesting info yet again from you.

I was just looking at gene stuff associated with angiodema called hereditary angiodema.Having just looked on NHS site which states triggers for angiodema are penicillin, ibuprofen,asprin,wasp stings and latex plus ssri like amityptilene all of which I have had similar reactions too was gobsmacked as you would think doctors could look at their own NHS site.What is really shocking is the fact that I have had these reactions and both boys and daughter have been diagnosed over the years with urticaria angiodema yet no one has tied that in with my allergy type symptoms.The same as thyroid problems widespread in my family and Ehlers Danlos so add all that to the Lupus and RA make me think there must be identifiable genetic changes visible if only they would look further.

Will have a look tomorrow the information you've just given and kick my gp into touch or somewhere ; )

Thanks again x



Please let us know what your medics say

Have you looked at that TED talk: boy oh boy did it make me think of you:

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Oops battery went!

Yes I read and reread as always it takes two times to really grasdp and understand things .

It is a real Eye-opener

It really is something I had never considered that testing wouldn't be done and results not correlated from men and women. There are enough illnesses such as Lupus and fibromyalgia which always have as note relating to more women than men presenting with this or that yet there hasn't been full scale research into the why and wherefore.

As for the asprin being harmful to women it was again suggested I took low dose regularly for heart until I mentioned my adverse reactions to it only three months ago.

Unfortunately until I obtained a filter screen for my pc I couldn't access the internet due to the light from screen which as does lighting seriously agitate my Lupus symptoms or I may have looked and thought of things like this awhile ago.The medics on the other hand have absolutely no excuse for being blinkered to the effects of their one size fits all prescribing.

Ooh big soapbox feeling but think hubby is giving me that sideways calm down and rest Effie you can fight them better tomorrow face to face.

It would be interesting to get feedback from everyone on here if they ask ,at their next appointment, if there meds are suitable for women and where the results are to back that info up.Fly on the wall would be interesting watching don't you think?

Thanking you for all this stuff

Effie xx

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It's all 1 step at a time stuff...feeling my way...aren't we all...I retain a certain amount of skepticism about all this info while I bide my time watching out for corroboration....there are so many biased types out there trying to preach their own angle

Your hubby is such a good guy

Take care: hope you can get a good sleep tonight



Hi littleffie. Do you think it could have something to do with the make of of male/female? I think women are a lot more proactive than men (ooooo I'll be in trouble for saying that)?

Makes me wonder, women multitask much more than men and seem to go at 100 miles an hour compared to men. I'ts a bit like the manifestation of this condition. I feel the symptoms of lupus are like "a neurotic workaholic". Don't know if I'm making any sense. Babs x

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I do think our hormone differences and general body make up must make a difference in the way meds react and illnesses present .

Can't say much about the man thing as hubby is as much of a workaholic as me and even with fibromyalgia and osteo still is amazing.We definitely work as a team and try help each other through the flares don't think we'd cooe without each other and at least we can relate to what each other is feeling. It does make us think though that both have fibromyalgia but it does present differently in him to me and the meds do work differently too so I can see as good argument that we should be tested and treated in desperate ways.

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Tried to pm you 3times yesterday and today plus email none will leave here.Lengthy or short won't send and disappear and email stuck in the outbox.Aaarrrggghh. Will try and fight the techy gremlins tomorrow as they seem to have taken up residence in my tablet. Hope you're OK my friend .

Effie x


Computers....grrr....have sent you a PM (hope you get it! Yes, am ok...& hoping you are) XO


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