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» LymeNet Flash » Questions and Discussion » Medical Questions » MTHFR mutation-does anyone know the significance?

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Author Topic: MTHFR mutation-does anyone know the significance?
amkdiaries
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I recently had a blood test indicating I was positive for the gene causing MTHFR mutation. After doing some reading it seems to be related to high homocysteine levels which I don't have.

I don't have a relationship anymore with the doctor who ordered the test because it was going to cost a fortune to have a consult but I remember her saying it has something to do with the inability to remove toxins. Any suggestions on finding out what it means would be appreciated.

Most of the information on line is too hard to comprehend Thanks!

Posts: 425 | From NY, United States | Registered: Mar 2005  |  IP: Logged | Report this post to a Moderator
hshbmom
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Aamk, I recently learned my family member has this deficiency. I'm in the learning stage & trying to see what this implies.
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maureen2174
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I have MTHFR deficiency. I had this tested after having a miscarriage years ago (before lyme or at least before I knew I had lyme).

My homocysteine levels have always been normal when they were checked.

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GADaisy
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Not sure which MTHFR you tested positive for but 5,10 methltetrahydrofolate reductase methylation is a gene that has a 40% higher positive affinity in Italians.

The genotype is so predominate in Italians it puts you at risk (doesn't mean you will - just increased risk overtime)for elevated homocysteine and S-adenosylhomocysteine (SAH).

If SAH is elevated you can have disrupted neurotransmitter metabolism and disrupted synthesis of DNA, carnitine and coenzyme Q10.

People who are positive for the MTHFR gene MAY benefit from pre-methylated vitamins. Particularily the premethylated B vitamins, methylated folic acid and methylcobalmin B12 and betaine TMG.

None of this genetic testing profiles has any proven evidenced based medicine as far as I know but it is a cutting edge area full of speculation.

I am not a doctor, so don't consider this post as scientific fact. It's all just my own opinion.

--------------------
When you are going through hell, just keep going. Winston Churchill

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TerryK
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My sisters and I all have several of the MTHFR mutations. I don't know which ones you have but one is probably the C677T mutation if your homocysteine is affected. This mutation affects the ability of your body to convert homocysteine to methionine.

So much of how these mutations affect a person depends on which mutations they have in combination with each other. One mutation can alter the effect of other mutations.

You may have other genetic mutations that modify homocysteine and thus yours is normal. In addition to a problem with methionine, this particular mutation means that your body is less able to make 5 methyl tetahydrofolate and you will require this form of folate to bypass this mutation. You also should not take any other type of folic acid when taking 5 methyl tetahydrofolate because they compete with each other. Look for a product called folapro.

Less folate pre-disposes one to colon cancer and possibly other cancers. I wonder if you also have the MTHFR A1298C mutation? That one makes it hard to get rid of parasitic infections, causes difficulty in deactivating viruses and causes one to have problems getting rid of toxins in addtion to other things.

I've heard others say that this is all highly experiemental and while there is much to learn about the implications of all of this, there have been studies that verify the significance of some of these issues.

Before supplementing with anything to open the methylation cycle, please learn more about it. It is complex and one can have bad reactions to opening the methylation cycle if they have mutations in SUOX or CBS upregulations.

http://health.groups.yahoo.com/group/CFS_Yasko/messages

http://www.ch3nutrigenomics.com/phpBB2/index.php?sid=6ddb9f1180ebc6eeaebc66541c1d3f04


Edited to add:
If you have methylation cycle mutations in addition to lyme, you will want to explore this further since it can be much harder to get well from lyme if you have significant methylation cycle mutations in my opinion.
Terry
I'm not a doctor

[ 24. August 2008, 08:33 PM: Message edited by: TerryK ]

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maureen2174
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I have both mutations and no doctor (I even went to a hematologist, seemed to think any of it was a big deal at all).

When I was pregnant with my son I had to take folgard. That was over 3 years ago and I have not done anything since.

What type of doctor knows a lot about this- I have both of those mutations mentioned.

thanks

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TerryK
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Dr. Yasko has several websites and books, CD's and discussion groups about the methylation cycle and what to do about various mutations.

Somewhere on her main site, she has a list of Doctor's. Not the yahoo group but the other link that I gave above. You can get answers from her or her admins if you ask questions on that site.

This doctor I believe knows quite a bit too.
http://heartfixer.com/AMRI-Nutrigenomics.htm

Terry

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antsettler
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yes, yasco and the depletion of glutathione; are some articles in pubmed where borrelia deplete the glutathione without touch the enzimes, and treatment with antibiotic rise it again; without glutathione not oxidative burst of neutrophills...; others bugs use the same strategy for null the innate defense, cheney theory of cfs; persons with mutations create less glutathione and in theory are weaker to borrelia and its (theorical) strategy of consume glutathione;
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Dawn in VA
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My LLMD tested me for this after I had clots resulting from a PICC. Turned up homozygous for the mutation. Elevates inflammation in vessels, can cause miscarages, etc.

She put me on a prescription vitamin called Cerefolin (methyl tetra hydrete folate...er something- can't remember the real name); it also has some NAC and methylB12 in it. Those with this mutation can't turn folic acid into folate- or it might be the other way around, sorry- and need this specialized form.

--------------------
(The ole disclaimer: I'm not a doctor.)

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seekhelp
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I too was Dxed with this a few weeks ago by a holistic doctor. He recommended MSM and DMG supplementation to "bypass" the error. I'm not sure what to make of it.
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TerryK
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seekhelp wrote:
quote:
He recommended MSM and DMG supplementation to "bypass" the error. I'm not sure what to make of it.
Hmmm....without knowing the exact mutation I can't say for absolutely certain but I'm 95% sure that this will not solve the problem if you have MTHFR mutations. As I mentioned previously, you need the tetrahydrofolate to solve the problem.

MSM and possibly DMG could be a problem if you have the SUOX or CBS mutations.

One doctor who is supposedly an expert told me that you treat all the mutations pretty much the same way. WRONG!!! Pays to do some research and not just accept what a doctor tells you since many doctors are just now learning about this problem and seems like some are giving incorrect advice.

Some of us have to be careful adding too many methyl groups (like methyl B12, glutathione, MSM and many other supplements) if we have a COMT mutation because we already have too many methyl groups. This can cause mood swings and other problems.

Terry
I'm not a doctor

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Dawn in VA
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Terry, that's an EXCELLENT link you posted! Thanks for doing so.

--------------------
(The ole disclaimer: I'm not a doctor.)

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jenin98
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google Yasko and get in her website. hollistic heal is her site. She does genetic testing, and helps kids who are on the autistic spectrum, otherwise known as mercury poison. If you have this mutation, you need to get plenty of b12 before you have nitrous oxide for surgery. this mututaion is in the methylation pathway, which is precursor for dna and rna.
Jenin

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