MTHFR Gene Mutation possibly linked with Endo

Thanks for this - you are obviously a scientist ! This is exactly what my medicinal herbalist has been talking about lately.She believes that many with endo have a genetic mutation which means the liver can't detox at stage 2.

She is currently working on my liver function ,digestion,immune system but has mentioned supplementation with methyl B12.It is available as a supplement for endo,but is very pricey so I have decided to wait see how other approaches help first.

Very interested to hear how you get on -is you DR on NHS?

Wow very good info! I will show my gynae dr too xxx

Hi, just had a look at Pubmed (main medical papers online database) and only found one paper searching for MTHFR and endo.

Szczepańska M, Mostowska A, Wirstlein P, Lianeri M, Marianowski P, Skrzypczak J, Jagodziński PP. (2011) Polymorphic variants of folate and choline metabolism genes and the risk of endometriosis-associated infertility. Eur J Obstet Gynecol Reprod Biol. 157(1):67-72

The authors state in their conclusions:

"Our study did not show an association of the 16 studied SNPs in 12 folate and choline metabolism genes, namely BHMT, BHMT2, CBS, CHDH, CHKA, MTHFD1, MTHFR, MTR, MTRR, PCYT1A, PEMT and TCN2, with endometriosis-associated infertility. We observed an interaction, however, between MTHFR Ala222Val and PEMT rs4244593 polymorphic variants in infertile women with endometriosis."

Translated in to lay terms this means that there is only a small correlation between mutations of genes in this family (MTHFR specifically) and endo-associated infertility. SNPS are small nucleotide polymorphisms, or point mutations in the gene sequence.

There are more studies listed on Pubmed looking at MTHFR and inflammation-associated pathologies, such as MS, pancreatitis etc, but no endo per se.

Note of caution: some of the sites you linked to have no proper scientific references, becareful with info in these. As a scientist myself, these worry me a lot.

Also, there is a wide body of literature on MTHFR which, as for any scientific question, can be contradictory. So again, don't take these sites as gospel.

Hopefully the discussion with your doctor will clarify things, do keep us posted.

Interesting, I'm a negative reuses blood group (not a common one) I also suffer with psoriasis , on my scalp, legs arms and torso. I've had various treatments for it but the latest is that my consultant wants to try tablets that affect the liver, I would have to go for weekly bloods for liver function, I really believe that all this affects each other including my endo x

Hi Brownlow - I just wondered if you have progressed any further looking at this possible MTHFR/methylation pathway link to endometriosis. I have done a lot of reading (it is a complicated topic!) and have also had my SNPs tested (via 23andme). Would love to compare notes (via PM) if your thinking and research has moved on (and especially if you have talked to your Dr - I have not gone anywhere near there yet!) x

Hi

Just stumbled upon this post and thought ... wow what a coincidence! ...

At present I have asked my hemotologist and my daughters for the blood test for the MTHFR c677t mutation and also for the homocysteine test too. The reason I did this is because my mother has tested positive for the genetic mutation and also v high homocysteine. Her Dr has mentioned that all children should b tested for this too. All 3 od us r already under hemotology as we also r S Protein Defieicent which means we cannot break down blood clots. So far my mother to date has had 22 (many of these as heart attacks, PE's and strokes).

My mother had major issues with her periods when I was a child, then was diagnosed with cervical cancer. She underwent an oophorectomy and total abdominal hysterectomy age 40. I strongly believe she has severe endo and her diagnosis was missed.

My reasoning for this is because I too have severe stage 4 endo and I know my symptoms etc were exactly the same as my mothers. I have had 2 major surgeries for my endo and this year underwent a subtotal hysterectomy and oophorectomy for my endo. My daughter (age 17) also has exactly the same symptoms and will undergo her laparoscopy on 28th May for this, although our surgeon says he is fairly sure she also has endo too

I have requested these blood tests be done for my daughter and me, not because we have endo but because it is genetic and due to my mothers diagnosis we also must b tested. This is the 1st thing I have read that suggests it may b linked to endo .... tho I'm not that surprised. I will however talk to the surgeon when we see him on the 28th about it.

My daughter is also Chronic Neutropenic which means she has a much lower than average immune system and needs to b very careful. She has spinal fusion surgery 2 years ago for a very severe spinal curvature which I also believe is linked to this mutation.

I think there could b a link here!! Certainly seems like it to me anyway Have been awaiting a call from the hemo all week now and he has already recieved the letters confirming these conditions from my mothers Dr's. Can't tell u anymore just now tho until he does the tests and the results r back.... Wish he'd hurry up with it all.

Thanks for the post too... very good idea

Cheers Mia x

Hi Mia,

Your family have been through a lot. Hopefully you are now starting to find reasons that will help you find solutions. A total hysterectomy and oopherectomy by laparotomy is also being suggested to me. Hence my need to research everything.

When it comes to endo, yes I think if that gene is mutated in any way then you will have problems methylating folate and folic acid into a form that is used by the body. This situation eventually leads to the high homocysteine but additionally it has been discovered that high levels of unmetabolised folic acid in the bloodstream is associated with reduced natural killer (NK) cell cytotoxicity (ability to kill cells). And what do women with endo have?.....deficiency in natural killer activity. There could be other links and pathways but this is the main one I've figured out. It's not necessarily causative that I can yet see but possibly contributes to endo's proliferation.

Therefore the basic key to this is to treat with a form of folate that the body is able to use. It's called methylfolate, metfolin or 5-MTHF. Whatever you do don't take folic acid as this will only make your situation worse and is very dangerous. B12 is also required and dosages of both need to be carefully chosen. Other problems can arise if this is not treated properly.

Did you know that the UK government is considering adding folic acid to bread? There are people out there with the gene mutation who could end up in serious trouble over this. I'm thinking of starting a petition and lobbying my local MP.

I have done a great deal of reading on this subject and I know another forum user has also independently come across MTHFR and is researching. I hope to write up something about it to explain a bit more. I feel it is only part of the endo story and prefer to have a multifaceted approach to dealing with endo. If women with endo do not have the gene mutation I still believe there could be problems methylating folate so it can still be a factor.

Please PM me if you'd like to exchange contact details for a chat. I think it would be useful in putting our minds together on this with a view to sharing our findings with others. Also, it will be helpful to you when you go to your surgeon on the 28th. My bet is that he won't have a clue about this so you will need all the research ready at your fingertips to convince him. xx

Hi Brownlow,

I have pm'd u about it I'm afraid that I'm still in the early stages about finding out about MTHFR and homocysteine stuff, and I'm REALLY bowled over by how much info there is and exactly how much of that I REALLY dont understand .... yet! I am sooo confused! I think there is alot of similarities tho and would love to keep in touch. Feel free to email me about it Did u also know that there is many great pages on fb relating tho this? If not then I could send u the links for them, just let me know. .(maybe u can help me understand it all) Lol!! My daughter and me have many other medical issues and this is just the most recent. To make matters worse we both r S Protein Deficient too which means if we do get a blood clot that our bodies r unable to break them down... not a great thing if we test positive for the MTHFR, so obviously we r worried. I also have psoriasis and major allergies, cellulitus from bites etc, slight scoliosis of my spine and osteo-arthritus there because of that. My daughter also has something called Drusens which is a swelling of her optic nerves and in May 2012 she underwent an enormous surgery to fuse her spine for a very extreme form of Scheurrmanns Disease (she became a hunchback in 11 months) ... which took her a whole year to recover from. Phew! Glad that one's over with!! All of these things I have also found out can b linked to MTHFR too..... I have a very suspicious feeling that we will both test positive as these r very rare problems ;-/ Anyhow, feel free to mail me anytime Take care and speak soon, mia xx

I've had endo since menarche at 15, finally diagnosed in 2009, though I had suspected it for years beforehand. My family also has a history of health issues that are commonly seen with the MTHFR defects, but it wasn't until my son was born with a tongue tie that I started to research causes and that led me to MTHFR. When I saw the list of common ailments associated with this defect, I realized I probably had the gene so got tested with 23andme. I'm still wading through a lot of information with the help of 2 family members (both biologists and able to 'translate' the research into layman's terms), but methylation plays a big role in the breakdown and elimination of estrogen. It's an essential part of Phase II detoxification in the liver, so if there is a block anywhere in the methylation process, estrogen will remain in the highly reactive form produced by Phase I detoxification instead of going on to be broken down in Phase II and then eliminated. It remains in the body and does all sorts of damage. Meanwhile, the endometrial implants and healthy endometrial tissue in the uterus go on merrily producing MORE estrogen, further overburdening the detoxification process and having all sorts of other unpleasant side effects. For instance, there is some evidence that women with endometriosis often have insulin resistance later in life to a much greater frequency than in the general population. MTHFR genes are not the only culprits either; there are several other genes that contribute to methylation (as mentioned above) and other associated processes in the body that can directly impact hormonal regulation. If I've learned anything, it's that to look at just one gene or group of genes in isolation is too small a view; as a PP has already mentioned, endo is a multifaceted disease in terms of contributing factors and possible causes. However, from a personal standpoint, for the last 10 months (since September 2013) I have been actively working to address my endo with significant lifestyle changes, and seen some huge results. These changes were: diet - actively avoiding all estrogenic foods for the first few months, and only gradually reintroducing the whole foods. I focus on whole, unprocessed foods, only healthy fats with lots of veggies, especially leafy greens, healthy lean veggies, whole grains (avoiding wheat and other gluten sources), no GMO products. Exercise - I cycle to and from work daily, about 40 minutes in all, 5 days a week. Eating patterns: smaller meals but protein-rich snacks between meals, so I'm eating every 3 hours until about 6.30-7.00pm. No more energy crashes! Acupuncture and Chinese herbs - working with a fantastic Chinese doctor. And finally, supplements. Lots of them. As the OP mentioned, MTHFR is pretty straightforward in that it can be addressed pretty well with a few supplements, but guaging how much and how to take them takes a little homework. In addition, if you have an ongoing condition (like endo) then you may need to look into other supplements. Since I started this program, I've lost a stubborn 25lbs in the first 3 months and kept it off without eating less or going hungry - i'm at my ideal weight and steady. Pain during periods has been majorly reduced, as has duration and intensity of flow, my skin is better, my hair and nails are healthier, I rarely get sick, my IBS has only flared up once in all that time, my concentration and focus is better, my moods are more stable - I could go on, but you get the picture. Endo responds really well to dietary and lifestyle support - I recommend the website endo-resolved.com/ - this lady resolved her Stage IV endo entirely naturally and has a lot of great pointers. Just remember she's not a doctor, merely a former sufferer passing along what she has learned. Good luck to all you ladies who've found yourself with endo - it's a sucky club to belong to.