Recent lab results indicate that I have a single copy (heterozygous) MTHFR C677T gene mutation.....I have done some reading on this online and on this board and understand that this condition inhibits the conversion of dietary folic acid to a usable form in the body and this leads to a deficiency.
Questions:
Could this gene mutation be the reason why my B12 and Folate lab blood levels are always very high?
Could this mutation be inhibiting the absorption of other nutrients? I have low Vitamin D, iron, and iodine ?
I read that this gene mutation causes high homocysteine level.....my current labs show that this is in the low normal range but it has been in the high normal range in the past.....any thoughts about this?
Anyone have this mutation, and how are you treating it?
Would really appreciate any advice or suggestions you may have.
Thank you . JJ
Posted by jwall (Member # 22999) on :
Yes, my Dr. would like for me to take Deplin (prescription folic acid that passes the blood brain barrier), but I cannot tolerate it (causes me pain), so I take Metafolin per his suggestion (can be ordered online) instead and I seem to do alright with this. I also do B-12 injections.
Sorry, don't know the answers to your other questions. I do know people with this mutation are at a higher risk for strokes, miscarriages, blood clots and cannot detox properly.
Deplin and B-12 injections help open the detox pathways.
Posted by Abxnomore (Member # 18936) on :
JJ29, Can I ask you what lab was used to test for the MTHFR C677T gene.
Thanks. Posted by JJ29 (Member # 5288) on :
Thanks, Jwall for your info......were your labs high or low for b-12 and folate?
Abxnomore: I had bloodwork done at labcorp......not sure how reliable this lab is for this test.
Posted by Abxnomore (Member # 18936) on :
Thanks JJ29.
Posted by faithful777 (Member # 22872) on :
I had the same result from this test and my folate and B12 are not high, they are low.
I was prescribed deplin, b12 methlcolbalmine injections twice a week.
Posted by JJ29 (Member # 5288) on :
Faithful, what did your LLMD say about this mutation?
Do you give yourself the b-12 injections?
Posted by lauirel (Member # 16640) on :
There are single mutations and double mutations. What other results did you get with the 677? Please tell me they did other testing within the methylation cycle. The methylation cycle is just that, a cycle in which rotates kinda like the gears in a watch. There are certain points in that cycle that must function for the entire gear or watch to work.
I have the double mutation of the 677T, the double mutation of MTRR, and the double mutation of MAO-A.
The methylation cycle you will find across the board in others in whom have posted their testing results, mutations exist in each one. If you look at the cycle and follow your own single and double mutations, you can see where some of these single mutations would be compensatory for others present along the pathway. So be careful to assume that a single mutation would be a problem causer. If it is compensatory to others present in the pathway, then the single mutation wouldn't become an issue except when the body is thrown out of whack by chronic disease. And it is here, in conjunction with other results in the methylation cycle, that with Lyme, we can track and find points in the cycle and test them further.
Posted by faithful777 (Member # 22872) on :
quote:Originally posted by JJ29: Faithful, what did your LLMD say about this mutation?
Do you give yourself the b-12 injections?
Just that I had the single mutation and needed to take deplem and do the B12 shots. I found a compounding pharmacy nearby that made up the vial of methly colbalmine and I inject subcutaneous with insulin syringes twice a week.
I am not on antibiotics yet. I had my first appt a couple of weeks ago with my LLMD. All the tests are still coming in and my follow up appointment is the end of October. When I went to have the bloodwork done, they took 22 tubes from me. As the tests are coming in, they are calling me and telling me what they want me to take.
They put me on cortef a couple of days ago based on the blood tests. I know my adrenals are toast. I am taking marinol for pain which is really working and ativan at bedtime so I can sleep. I am hypothyroid and take Nature Throid daily and also add cytomel twice a day.
Posted by JJ29 (Member # 5288) on :
Lauirel, thanks for your explanation.....I was tested tested only for the MTHFR mutations C677T and A1298C(this was negative).
If I understand what you are saying, I should be tested for all other possible mutations on the complete panel before we reach any conclusions? What is the complete methylation panel called and where can I have it done?
Faithful, it sounds like your LLMD is really on top of things......did you have the complete methylation panel done?
Posted by Abxnomore (Member # 18936) on :
I'm pretty sure Genova does the complete panel and there is one other lab whose name has been mentioned but it escapes me.
Does anyone else know the name?
Posted by lauirel (Member # 16640) on :
Health Diagnostics Methylation Panel
Genova Diagnostics Metabolic Analysis Profile
Metametrix Plasma 40 Amino Acids Panel
23andme.com Saliva Genotyping Panel
Amy Yasko Nutrigenomics Panel: that looks at polymorphisms in enzymes associated with the methylation cycle.
University of Toronto testing of the intracellular B12 metabolism enzymes.
For testing the methylation cycle for gene mutations, the Health Diagnostics Methylation Panel or 23andme genetic testing are two choices.
The Health Diagnostics is crazy expensive but it includes interpretation where as 23andme is not expensive and easily affordable, but then you are left with finding someone to interpret your results, or learning to do it yourself. I chose the latter due to financial strain.
The other panels listed are supportive in investigating which nutrients you are either deficient or abundant in, and help to support the interpretation and correlate to mutations found by the genetic testing.
Also, Health diagnostics only tests for mutations in the methylation cycle, 23andme, will give you about a million results, of which then the methylation cycle can be found within.
You can go through a doc to gain this particular testing, or your can go to a lab in which will perform the tests without an RX. But then you are obligated to get them to your doc, or again, interpret them yourself.
Posted by Abxnomore (Member # 18936) on :
Lauirel, thank you for this wealth of information.
Posted by lauirel (Member # 16640) on :
Here's some more info that may be helpful.
Genova Labs formerly known as Great Smokies Diagnostic Lab
From what I understand, MyMedLab is an extension of the Great Plains Lab. Where as Great Plains requires a doc orders, MyMedLab does not.
Posted by lauirel (Member # 16640) on :
Your welcome!! Posted by JJ29 (Member # 5288) on :
Lauirel, thank you so much for this extremely helpful information, I will look into these labs.
I must admit I'm a little overwhelmed with all of this?
Were you able to interpret your methylation results yourself or did your LLMD do it for you?
Did you also have the supportive nutrient panel done as well?
Is the Intrancellar B-12 metabolic enzyme test the best way of determining if the cells are absorbing B-12 and if there is a deficiency?
I apologize for all the questions Lauirel.
Thank you Abxnomore for your info.
Has anyone else done a complete methylation panel and/or nutritional panel?
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