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MTHFR Gene, Fibro and Serrapeptase?
11 Replies
January - March 23

I'm starting a new thread, with the appropriate title, because everybody should know this. Especially if you or your famly have had homocysteine levels, fertility problems or clotting or vascular problems, please read. Here's a repost of what fantod said on another recent thread:

MTHFR Gene Mutation

This is interesting as it mentions fibromyalgia as a possible outcome of this deficiency. Genetic testing is needed to determine if you have the problem. Also, I was told that Canadians have a higher incidence of this mutation. I originally posted this information in 2009.

What is it?
The gene MTHFR (Methylenetetrahydofolate Reductase) encodes the protein MTHFR. Its job is to convert one form of folate (5,10-Methylenetetrahydofolate) to another form of folate (5-Methyltetrahydrofolate). 5-Methyltetrahydrofolate is used to convert Homocysteine (a "bad" amino acid) to Methionine (a "good" amino acid). Therefore, if MTHFR is not doing its job as well, homocysteine will not be converted to Methionine and will be elevated in plasma. Elevated Homocysteine has been associated with a variety of multi-factorial diseases.

Essentially what this means is that the genes that instruct MTHFR to convert homocysteine to Methionine are mutated and may not be capable of doing this important function. MTHFR is an enzyme that converts Homocysteine to an essential amino acid (Methionine). When the genes are mutated you may be lacking this enzyme. Your Homocysteine levels can possibly climb making the blood clot. Some doctors don't check for the MTHFR mutations and rely only on homocysteine levels. This isn't as reliable as testing for the mutations, because Homocysteine levels fluctuate (if you catch your level on a normal day, you may go undiagnosed).

What Type Do I Have?
With MTHFR, there are two different genes identified for this mutation, and it's possible to be "heterozygous," "compound heterozygous," or "homozygous." The MTHFR gene mutation has varying degrees of possible implications. The order of potential severity from most to least is:
1. C677T & C677T (Two C Copies - C677T Homozygous)
2. C677T & A1298C (One Copy of Each The C & A - Compound Heterozygous)
3. C677T (One C Copy - C677T Heterozygous)
4. A1298C & A1298C (Two A Copies - A1298C Homozygous)
5. A1298C (One A Copy - A1298C Heterozygous)

The MTHFR mutation is fairly common in the general population. Approximately 44% of the population is heterozygous and another approximate 12% are homozygous for the MTHFR mutation. Compound heterozygous and homozygous MTHFR have the highest incidences of being linked to implantation failure, late term miscarriages, specific birth defects and overall vascular health. Whichever type of MTHFR you have, it should not be discounted, particularly if there is a personal or family history of any such incidences.

What Are the Implications?
Any and all of the mutations can affect homocysteine levels, but there is much dispute as to whether elevated homocysteine levels are actually needed in order for MTHFR to cause medical complications. Many other MTHFR patients have normal homocysteine levels; yet have had implantation problems, m/c(s), and/or stillbirth(s) due to clotting problems. So it is important to find out your Homocysteine levels (although again, normal doesn't necessarily mean all is well). This is a serious field and MTHFR is a serious condition, so consulting an expert is wise.

Research shows that high homocysteine levels and/or those with the mutation show a higher propensity for thrombosis (blood clots), arteriosclerosis (hardening of arteries), Alzheimer's, stroke, heart attack, Fibromyalgia, migraines (especially with "Aura" migraines), osteoporotic fractures, bone marrow disorders and for those of child bearing years, it has found to be connected to higher incidences of down's syndrome, spina bifida, other neural tube defects, trisomy, miscarriage, stillbirth, implantation failure, placental abruption, preeclampsia, higher incidences of autism, amongst others. Additionally, if you test positive you may want to have your parents, siblings, and any children you may already have tested, as well. There are a few positives to this disorder. Because folate is necessary for cellular division, there is support that shows having this disorder can actually help keep certain types of cancer cells from multiplying as rapidly, so there are some benefits from having this mutation.

Many doctors prescribe Folgard, which is a prescription vitamin supplement containing high levels of folic acid, B12 and B6. These vitamins are what the body essentially needs to convert Homocysteine to Methionine. To put this into perspective, the average multivitamin contains 400 mcgs , most prenatals have 800mcgs of Folic Acid (200% of the normal daily value). Those that are compound heterozygous and those that are homozygous for the mutation are recommended taking 5 mgs. of Folic Acid/B vitamins (12 times the average multi-vitamin and 6 times more than prenatals). It is also recommended to begin taking a low dose (LD) aspirin (81 mgs) once a day, every day, for the rest of your life.

And here's my recent post, wondering if anyone has more information on this:

January - Mar 23rd, 2011 7:13 PM
Fantod - and anyone else? Have any ideas about Serrapeptase and how it might tie in to MTHFR problem? I'm thinking it might, because it's supposed to prevent plaque buildup on arteries - and break down fibrin. Homocysteine indicates inflammation in the body, and Serrapeptase is a "natural" anti-inflammatory...


January - March 23

Excuse the typo -- first line should say "if you've had HIGH homocysteine levels…"


mdak - March 24

January- I was just reading your article. I have a genetic clotting disorder. I dont think it's that name you have said. I have a hard trouble remembering due to a stroke from this disease. Maybe I can ask my Dr. the name of mine. I have had 3 pulmonary embolis which is extremely dangerious. If I get another clot my dr said I would need a filter. I am on coumadin a blood thinner for life. I do see a hematologist. I am wondering is this part of the FM. I Know as soon as I started my blood thinners, my legs stop hurting so much. They said I was having clots in my legs and it moved up to the lungs. I just learn more and more each day from everybody. Thanks for the info.


mdak - March 24

January- This is really bizzar!~ I have a clotting disorder. Not sure which one at this time. You put having high homocysteine levels have a potential for stroke, alzheimers, FM. I have all three. I was tested not long ago and they said I have dementia with early alzheimers going on. It was hard to accept, but it answered a lot of problems I was having at home.I dont know if I have high homocysteine levels, it makes me wonder. I cant even drive due to my dementia.


January - March 24

Hi mdak. I don't really know anything about the medical implications of this clotting disorder and fibro, so you really must ask your doctor. This is new to me too, so I am trying to learn more.

Fantod wrote this wonderful article, and it's about a genetic defect that affects the production of a protein called MTHFR. MTHFR is an enzyme that converts homocysteine into methionine. It isn't good for you to have too much homocysteine, so you need this enzyme working properly to change homocysteine into methionine.

There are two genes that might cause problems. They are C677T and A1298C, so those are the genes you would need to be tested for. IF you have a combination of these genes, you MIGHT have a problem with too much homocysteine - or you MIGHT be at risk for some of the diseases mentioned. I am not sure if they have established a DEFINITE link yet, so please don't stress!

You said your doctor has put you on Coumadin and you are feeling better. And, as Fantod said, this is a serious field, so your doctor might want to refer you to an expert to get more information on your own situation. I am certainly no expert, so you must talk to someone who is. Write down the names of the enzyme and the genes, and the diseases, and ask your doctor about it.

The good news is, it looks like they have some treatments, like B vitamins - but please DO NOT treat yourself or you could cause interactions with the meds you are taking now; this must only be prescribed by your doctor if he thinks you need it. This is very complicated medicine, and especially since you take other meds, I would strongly suggest you take this information to your doctor and talk to him about your own symptoms and see what he thinks. He might want to send you for a genetic test. It depends on what he knows about your individual situation, so trust your doctor over anything you read on a website.

I wanted to post this information to educate people about a fairly new development in genetic testing, so they could talk to their doctors about it. But it is complicated, so you will need to talk to someone who knows all about it. Maybe there will be something new to help you with your symptoms; that's my prayer for you. I know you are dealing with a lot, and it sounds like you have some good doctors on your side. Let us know if you learn anything about this from them!


Fantod - March 24

January - I've been noodling this for a couple of days. As I have mentioned before, I believe that my FMS originates on my Dad's side of the family. He has many of the conditions associated with FMS but not the syndrome itself. As it happens, my parents and I are all Canadian.

My Dad has cardiac issues and is now 84. He also has mild dementia. About 6 years ago, he had a stent put in for a heart blockage. A full twenty four hours after the procedure he threw a clot that almost killed him. The cardiologist happened to be in his room writing up the discharge papers when it happened. The percentage of that happening is less than 1%. I now feel that the MTHFR factor may have caused this although he has never been tested. Dad has also had a heart attack and hardening of the arteries is also part of the big picture.

If I ever have to have any kind of cardiac procedure, I will get tested for the MTHFR mutation first as a precaution. If I can figure out a way to get it covered prior to that, I'll get it done. With Dad's history, I would be foolish not to take this seriously.

Thanks for dragging some of my old stuff out of the attic to refresh people's memories - myself included. Take care.


lacey - March 28

That's funny, I just received a pamphlet in the mail a few days ago and there was an article in it about fibromyalgia and amino acids. As I can't scan it and insert it here, I will type it up and then copy and paste it here. Sorry I hope that made sense.

There was a bit in that article that the researches were working for a nutrician company, so I started to think, it was rubbish.

I type it up tomorrow.


January - March 28

Lacey - hope you will share your information, even if it is potential rubbish. Maybe not…?

I think a lot of strange illnesses have their root in bad nutrition or an inability of the body to absorb nutrients. I used to have a huge book on nutrition, but I never read it because I thought that stuff was too BORING back then! And… it may have been not-so-accurate because...

Another thing to consider is the information we get is so media-driven - and who pays for the media? Huge corporate sponsors - like the big food manufacturers that are selling us processed, GMO, watered-down, nutrient deficient food full of chemicals. I believe it was kvc who recently posted something about the ridiculous US recommended food pyramid that states we should be eating a LOT of grains. Just for fun, google "Dangerous Grains." That is a book that changed my life - and probably saved it too!



lacey - March 28

Hi January,

I've finished typing it all up. DO you want me to insert it here or make a new thread? it's just a small bit of info but if these guys are right, it makes sense.


January - March 28

Hi Lacey - why not start a new thread about fibro and amino acids, as I think the title of this thread might not be of interest of a lot of folks…. looking forward to reading what you have, thanks!


lacey - March 28

OK will do that now.


ozzette - January 29

I found this topic extremely interesting and knew the people commenting were smart enough to try to do some research on their own. I just brought home a copy of a DNA test that was done to identify the best meds for me. I have heterozygous for the C677T polymorphism in the MTHFR gene. I looked at the page, which was headlined by a large box checked which said reduced folic acid conversion. I remember that folic acid was a B vitamin, which I know is recommended for Fibro patients. So, I preceded to search the c677t, etc. and figured it out quite quickly. Then I searched for Fibro with it. Tada. If I can get this far in just 20 minutes, what is taking them so long to find a fix??? My sister has RA and had numerous miscarriages, which are also consistent with this mutation. I am almost crying with relief of physical proof of my illness. But why can't the people who play in the labs figure this out? Like I said, I haven't been looking for more than 20 minutes and found this much. Imagine unlimited funds and the intelligent lab rats they have. The only thing I can think of is the fix is so easy it won't make any money. :(
Thanks for listening.



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