MTHFR results

Gabes-Apg · Post by **Gabes-Apg** » Wed Apr 23, 2014 8:52 pm

The results are in

MTHFR Gene Mutation (C677T): Mutation not found
MTHFR Gene Mutation (A1298C): Mutation not found

despite my little collection of 'interesting' medical issues, that mutation of either/both MTHFR genes would clearly explain...
not the case for me. Still awaiting results for the Pyrrole.

With that situation confirmed, we can proceed with some changes to my supplements to focus on natural balance of mast cells/histamine, adrenal fatigue, moderated immune system.
Albeit, if the results of the MTHFR had been positive, there would not have been that much of a change in the treatment protocol.
The most valuable use of MTHFR gene testing is for people who are parents, and if they are positive to then have their children tested so that modifications (diet/supplements) can be implemented to minimise occurrence of chronic conditions later in life.

maestraz · Post by **maestraz** » Wed Apr 23, 2014 9:06 pm

Sorry, gotta say it.
This gene needs to be called the M-th-ER-****er

Gabes-Apg · Post by **Gabes-Apg** » Wed Apr 23, 2014 9:11 pm

Suze...
too funny, that is exactly what I thought when I first saw Connie (Stanz) post on this forum... and on more than one occasion almost said it that way when I was talking to family about it!!!

dfpowell · Post by **dfpowell** » Wed Apr 23, 2014 9:47 pm

Gabes,

Since you posted this topic, I decided to look at my gene testing results again.

I tested positive (homozygous) for the MTHFR (A1298C) gene mutation, and negative for C677T. When I met with a Functional Medicine MD, earlier this year, she did not think much of those results. So what have you been advised to do regarding supplements, and how do you know if you are having problems specifically related to that mutation.

Another gene mutation I am homozygous positive for is the VDR Taq, which I think means my vitamin D levels can be low and vitamin D supplements are important.

Gabes-Apg · Post by **Gabes-Apg** » Wed Apr 23, 2014 10:23 pm

Hello Donna

The chart/mindmap in the link below shows what issues are linked to A1298C (and C677T), Aggravating factors etc (interestingly alot of the aggravating factors are similar to Mast Cell/Histamine.......)

http://www.mindmeister.com/12694596/mth ... h-problems

had the test(s) been positive then we would have changed the type/delivery method etc of supplements I use (namely for B group and avoid folic acid, have L-methyl folate etc)
we are still proceeding with a very similar approach to what is mentioned below, we are going to test parasites / bacteria / microbes of the gut. I have started probiotic Saccharonmyces cerevisiae boulardii

I would recommend working with a practitioner (doctor / nutritionist / etc) who is knowledgeable in this area.
and make sure you approach 'treatment' (which may be change of supplements) in the right way. (also with the VDR Taq result for you..)
My practitioner has been awesome about making changes that a) i can afford b) wont send the MC into chaos.

I am not sure about the VDR Taq. I did share the recent Vit D3, VDR, mast cell discussion with my practitioner today. We agreed that the current system (ie blood test) does not test the right elements to give insight to the Vit D3/VDR situation. And there are still conjectures amongst Vit D3 advocates about what the current Vit D3 test levels is really saying.....

This is the best 'not too technical' info I have found about 'treatment' for A1298C issues
Hope this helps!
(Based on what the article below says, having a healthy digestion, that is healed and has minimal leaky gut issues affecting the liver is an important first step BEFORE taking treatment for A1298C)

http://www.fitzeefoods.com/tag/mthfr-treatment/
How do I fix the problem you ask? It’s relatively simple in many cases. You will want to avoid any supplements and foods fortified with folic acid or folate, since you are unable to metabolize it. The most important step is taking L-5-methyltetrahydrofolate, or L-5-MTHF. While some supplement companies have changed to this form, many are still using regular folic acid. Many people jump straight to just taking large doses of this vitamin. This is a HUGE mistake and can make you quite sick. Because the methylation pathway is a primary method of detoxing heavy metals and environmental chemicals, taking a large dose of this nutrient right away will result in toxins being dumped too quickly. And if your gut and liver are not functioning properly, you may recirculate toxins, moving them around instead of out! The older you are and the more toxins that you’ve been exposed to, the more slowly you must proceed with correcting your methylation pathways. If you’ve been on several rounds of anti-biotics, either in adulthood or as a child, it’s important for you to supplement with a high-quality probiotic. If you’re not having at least one bowel movement per day, you will want to not only supplement with a probiotic, but you should also likely pursue a stool test. A stool test will indicate what level of each of the good bacteria that you have, if there are any pathological bacteria present in the large intestine, any yeast that may be present, as well as any parasite infections. Why do you need this test? You want the gut functioning at a high level and emptying twice/day preferably before beginning any methylation protocol. As mentioned above, if this is not done, one will likely reabsorb toxins and experience an increase in symptoms. While optimizing gut health deserves an entirely separate article, suffice it to say that this must be addressed before moving on to fixing methylation. And remember, many times gut issues will not present as gastrointestinal symptoms, but may produce skin eruptions/rashes, fatigue, difficulty concentrating, etc. - See more at: http://www.fitzeefoods.com/tag/mthfr-tr ... Ui8i2.dpuf

http://www.stopthethyroidmadness.com/mthfr/

How to treat it
You can’t change a defective gene. But you can help it do its job better and minimize problems.

Some find their ‘folic acid’ lab test levels are high (it’s one of several folate vitamins) since a defect in the gene prevents your body from using it, so it goes high…unused. The recommended solution is avoid supplements and many processed foods with folic acid, especially if you are Homozygous (having a copy of the same defective gene from each parent). Healthy foods that contain folate should be okay, as would be the active form of folate called methylfolate as a supplement, also called 5-MTHF (5-methyltetrahydrofolate).

B12 might also be high, so patients tend to avoid the synthetic supplemental version of B12 called cyanocobalamin and instead favor the more useable methylcobalamin (methylB12), which will help break down those high levels. But the methylB12 will be used by your body in detoxing you from toxins, so you may need to start low to avoid detox side effects like fatigue, achiness, etc.

Another good B-vitamin is the methyl version of B6, called P-5-P.

Dr. Ben Lynch feels that “repairing the digestive system and optimizing the flora should be one of the first steps in correcting methylation deficiency”, and that especially includes treating candida because of the toxins it releases, inhibiting proper methylation.

Some experts recommend eating clean, such as Paleo or the GAPS diet.

Avoiding exposure to toxins is important.

If adding methyl B’s cause you to over-methylate, taking time-released Niacin, 50 mg, can slow it down. Symptoms of over-methylation can include muscle pain or headaches, fatigue, insomnia, irritability or anxiety.

Minerals play a key role in several enzymatic functions. Vitamin C helps reduce oxidants. Molybdenum (500 mcg) helps break down excess sulfates and sulfites

red highlight was mine... reduce inflammation and healing the gut is SUPER important first step

This website http://www.knowyourgenetics.com/ offers suggestions on how to treat your defects.
High Copper/Low zinc
This can be a common finding when you have an MTHFR defect–a high level of the neurotransmitter copper, which will conversely mean your zinc levels will fall. And since the ratio of these two metals is highly important, correctly the problem is crucial, since high copper can be related to hyperactivity, depression, headaches, acne, frequent colds due to lowered immunity, sensitive skin and/or bruising, worsening hypothyroid, adrenal stress and more.

High copper can also make it difficult to raise iron levels, including your ferritin.

Vitamin C is known to help lower high levels of copper via detoxing, but patients report they need to go low and slow to tolerate the detoxing. Zinc is also used the same way–to encourage the lowering of copper, but the same caution with detoxing applies. Lawrence Wilson, MD recommends a nutritional approach to correcting the imbalance: remove IUD’s, avoid high copper foods like chocolate, seeds and avocados, avoid stress and more. Work with your doctor.

The bold is my highlight

Heady · Post by **Heady** » Wed Apr 23, 2014 10:33 pm

Soooo.... Being a mother(diabetic&MC) of two sons(25&22yr).... You have my attention. Is there testing that I should be having done to know whether my sons are likely to follow in my genetic pool of imperfect genes? I have appointment next week with GP to discuss last weeks blood test results. Then hopefully start with Enterolab. Is this test something that I can ask my GP to order through our provincial health plan? What does it involve? It would be good for the boys to make dietary changes now before irreparable damage occurs!

Zizzle · Post by **Zizzle** » Wed Apr 23, 2014 10:35 pm

That's a relief Gabes! Not having the mutation hopefully means your detox pathways are working properly.

Gabes-Apg · Post by **Gabes-Apg** » Wed Apr 23, 2014 10:56 pm

There are quite a few tests that will be beneficial to your children if they want to minimise the risk of chronic illness occurring.
I know of a few PP forum members that have daughters/sons/nieces/nephews do the enterlab testing and they did identify issues with Gluten, Dairy etc and have modified their diets to minimise damage to the gut.

For the other tests I am not sure what the set up is in the USA (Aussie health system is way different)

there is the HLA - DQ2/8 (which is the likelyhood of coeliac) (this test is 'free' via the Aus Govt Medicare system when requested by a doctor)

Tex or some other guru can comment on the who what when of these tests
via this part of the forum is the list of results for various members
http://www.perskyfarms.com/phpBB2/viewtopic.php?t=10084

the MTHFR testing was via a 'private lab' ie not subsidised by govt medicare structure. Albeit the test has to be ordered by a registered practitioner (ie they are registered with the private lab) and the results go to them.
it is MTHFR C677T and A1298C.
the test kit was via saliva DNA, pay upfront for kit and test, they send you the kit, small brush, brush the inside of the mouth and place back in the pouch, post express service to the lab.
It cost me $50

The other test - depending on symptoms etc is Pyrrole.
http://www.truevitality.com.au/articles ... -disorder/

My friend and her children, the testing was requested by her Dr and covered by the Aus Govt Medicare system, and she got the results straight away as the test was done on the spot
Mine via private, was $75. I had to go to a lab collection place to do the urine collection, as they have to protect it from light and then freeze it straight away.

For my friend, confirming Pyrrole explained alot about her health issues. Then confirming that her 11 year old daughter has it, she has started to make the changes with treatment/diet etc. with the intent of eliminating issues later in life
(the family were already GF/DF)

Hope this helps

Gabes-Apg · Post by **Gabes-Apg** » Wed Apr 23, 2014 11:06 pm

Zizzle

Not having the mutation hopefully means your detox pathways are working properly.

mmmm not quite...
I know via BIA and Kinesiology that clearance of heavy metals is blocked and causes issues (mid to high level renal impairment)
MTHFR would have been the 'easy' answer for that..

for now, (3 months or so) we are focussing on managed mast cells/histamine, eliminate inflammation, no leaky gut, calm immune system.

We are pondering options for heavy metal detoxifer/antioxidant along the lines of Biocurcumin /Theacurcumin

mcnomore · Post by **mcnomore** » Fri May 02, 2014 7:27 pm

I am pretty sure Medicare covers the MTHFR test. I had my doc order it, but she only ordered the 1298 instead of both. I ended up getting genetic testing at 23andme.com and then uploading the results at geneticgenie.com and promethease.com (they give you different types of results.

mcnomore · Post by **mcnomore** » Fri May 02, 2014 7:29 pm

Good info Gabes, thanks

Joefnh · Post by **Joefnh** » Fri May 02, 2014 7:50 pm

Hi Gabes, thanks for sharing the results, I am glad its not a genetic issue, hopefully that will allow for a better range of treatment options. When do you expect the Pyrrole results?

Since you mentioned this I have been reading up about these tests and they are quite interesting, this is quite and interesting area of medical science.

As aways your attention to detail and mental focus is incredible.

Fern · Post by **Fern** » Sat May 03, 2014 9:44 am

Gabes,

I want to thank you for posting that you were being tested for MTHFR mutations. I had never heard of it and googled it. You'd better believe it got my attention!

With pre-eclampsia in my first pregnancy, anencephaly in my second and a sister with a history of miscarriages, I guessed that I probably had a mutation. When I read that the mutation(s) could make A1c's run higher and cause more diabetes complications, I decided I had better get tested and see if my 3 sons with Type1 needed to be tested, too. My PCP had that test run along with my other labs at my physical 10 days ago.

I wasn't prepared for the result.

I was expecting one or possibly two copies of the C677T. Lucky me! I am compound heterozygous. Quest labs did the test and the report stated,

This individual is compound heterozygous for the mutations C677T and A1298C in the MTHFR gene. This risk has been associated with an increased risk for hyperhomocyeinemia and vascular diseases… Hyperhomocysteinemia is a risk factor for arterial disease and venous thrombosis.

Yikes!

Sounds like I need to eat more dark green leafy raw foods… but I can't! It's a real Catch-22.

Anyway, thanks for raising my awareness. I would never have found it, had you not posted about your testing.

Gabes-Apg · Post by **Gabes-Apg** » Sat May 03, 2014 3:15 pm

Fern,
The thanks should go to Connie (Stanz), she was the one that got me researching it etc.

I am fairly confident that there is way to get the right nutrients/minerals without upsetting the MC, just takes a bit of detective work, and a bit of tenacity...
Either by food or supplements, or both.

With the increase availability of lingual, powder, sprays, creams products there are ways of getting good levels, and not upsetting the gut...

MBombardier · Post by **MBombardier** » Sun May 04, 2014 2:44 pm

I got my genome deciphered, or whatever they call it, at 23andme, then after I sent it to geneticgenie and a couple of others, I sent it to MTHFR Support. The test was fairly inexpensive--less than $50? MTHFR Support does a number of tests, including IgA, IgG, allergy/mold, clotting factors, and a couple of others.

As far as MTHFR mutations, there are a bunch of them. It looks like someone bled on my results. The good news is that of the two important ones I do not have a c677T mutation. I do have a double mutation of A1298C. I take L-5-MTHF and the methyl forms of the other B vitamins. I feel like it has made a difference in my health.

This is a really important and little understood puzzle piece, in my opinion. Thank you, Stanz and Gabes for keeping it up front.