6 Sep

SO I have a gene mutation, two actually.

I had some blood work done late last year and when I picked up the report the first page declared I was Compound Heterozygous. Compound referring to the two mutations. I am positive for one copy of  C677T mutation and one copy of A1298C mutation.

Basically this means I have an increased risk of hyperhomocyteinemiavascular diseases, some cancers, emotional problems and degenerative disease in general. Yea me!

Both of my parents died from cancer; my dad lymphoma and my mother lung cancer. My brother had  prostate cancer. My nephew died in his 40’s from a form of leukemia. I am somewhat estranged from the rest of my family so I am not sure if there are more. So basically I already knew I had genetic risks for cancer/degenerative disease, no surprise there. My family’s health history is part of the reason I have an interest in natural health.

The other reason for my interest in wellness is I grew up with my mom dabbling in all things natural health  so it was natural for me to do the same, dabble in natural health. I grew up in a home where carrot sticks were more common than potato chips, I drank milk or juice, not Coke & Kool-aid. Yet I also learned to love ice cream, fried chicken, & bagels loaded with cream cheese there. Those foods are just normal thought, right? And I wasn’t eating a lot of junk on a regular basis. But the truth is normal people get cancer or die young from heart  disease every day, and I’ll see your normal and raise you two gene mutations 🙂

These test were a wake up call for me to quit dabbling and get serious. I owe it to the things my mom instilled in me about eating right & exercise that I am fairly healthy now. But, she was fairly healthy for her age and cancer showed up. So, I am going to take my health to the next level. That’s right I am going to the extreme. I’m not nieve enough to think anything I do will make me completely immune to cancer or any of the other problems; BUT, I will give my body the best chance I can to survive THRIVE; and if I do have to  battle against a disease I plan to go into that fight in the best shape of my life. I’ll be posting more about some new things I am doing soon, but for now lets look at MTHFR.


mutation2***The information on this page is from research I have been doing the last few months, I am by no means an expert on MTHFR or gene mutations.

The official name of the MTHFR gene is methylenetetrahydrofolate reductase gene (methyl-ene-tetra-hydro-folate-reductase).

 MTHFR most often refers to a genetic mutation that inhibits the body’s ability to methylate or convert folic acid from the food we eat into Methylfolate (L-MTHF).

The normal function of the MTHFR gene:

The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase, or the MTHFR enzyme (leave it up to the scientists to confuse us). This enzyme plays a role in processing amino acids, the building blocks of proteins. Methylenetetrahydrofolate reductase is important for a chemical reaction involving forms of the B-vitamin folate. Specifically, this enzyme converts 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. This reaction is required for the multistep process that converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds.

Why the MTHFR gene is important:

The MTHFR gene is responsible for making a functional MTHFR enzyme. If the MTHFR gene is slightly mutation3altered (mutated), the MTHFR enzyme’s shape becomes distorted. Enzyme function depends a lot on shape. It is similar to the grooves on a key. If the grooves on a key are slightly different than the lock, the key may fit and turn the lock a little but it does not unlock the door.

The genetic code of the MTHFR enzyme must be perfect in order for it to function properly. A dysfunctional MTHFR enzyme may lead to a slew of health problems.

This MTHFR gene mutation affects how our bodies process B vitamins for absorption and use; this biological process is called methylation.  Methylation is simply the transformation of food into enzymes or ‘active elements’ the body’s cells can directly and immediately use.

Remember, a healthy MTHFR gene is responsible for converting folic acid into Methylfolate (the ‘active element’ form of Folate that your body uses).  Our cells cannot actually use folic acid. Folic acid must get converted into Methylfolate before the body’s cells can use it.   This conversion from folic acid to Methylfolate is a 4-step process, but if someone has an MTHFR genetic defect, then the enzyme transformation between steps 3 and 4 is mutated which causes many systemic problems.

So this means the vitamin processing pathways are not functioning properly and because of this the cells are trying to use defective enzymes, which can cause the body to malfunction and display a variety of symptoms and diseases.  These B vitamin pathways are responsible for many foundational health processes:

  •  Clearing the body of toxins (making glutathionine to do this job),
  • Regulating central nervous system health (making serotonin, dopamine, norepinephrine to do this work),
  • Regulating cardiovascular health (reducing homocysteine levels which are damaging to the heart)

The most common MTHFR gene mutations:

  •  Mutation 677 – can be linked to: Heart disease, heart attack, Stroke, Blood clots, Peripheral neuropathy, Anemia, Miscarriages, Congenital birth defects, and more
  •  Mutation 1298 – can be linked to: Depression, Fibromyalgia, Chronic Fatigue Syndrome, Migraines, IBS (Irritable Bowel Syndrome), Memory loss with Alzheimer’s and Dementia, even other psychiatric problems can be tied to this defect (OCD, Bipolar, Schizophrenia), and more

Symptoms of toxin build up may be linked to one or both of the MTHFR defects – nausea, diarrhea, abdominal pain, liver and kidney dysfunction, hypertension, tachycardia, pulmonary fibrosis, asthma, immune problems, hair loss, rashes, and much more

  • MTHFR 677CC = a normal MTHFR gene
  • MTHFR 677CT = a heterozygous mutation which is one mutation
  • MTHFR 677TT = a homozygous mutation which is two mutations
  • MTHFR 1298AA = a normal MTHFR gene
  • MTHFR 1298AC = a heterozygous mutation which is one mutation
  • MTHFR 1298CC = a homozgyous mutation which is two mutations
  • MTHFR 677CT + MTHFR 1298AC = a compound heterozygous mutation which is one mutation from two different parts of the gene  ** this is what I have **

Symptoms of MTHFR

There are many different symptoms someone with one or both gene mutations might encounter.  Not everyone has the same set of symptoms because there are many other genetic and environmental differences that complicate health. There is a key systemic problem that comes from low methylation and it causes three different symptom areas.

Systemic problem:  Homocysteine levels are too high due to the fact that not enough Methylfolate is available to convert the Homocysteine into Methionine, SAMe and Glutathione.  Think of Methylfolate (L-MTHF or 5-MTHF) as the wizard changing the bad guy (Homocysteine) into good guys (SAMe and Glutathione).

 Three symptom areas:

 1.  Central Nervous System disorders – some of these come from Homocysteine not getting converted into SAMe.  SAMe is responsible for creating Serotonin, Dopamine, and Norepinephrine (neurotransmitters responsible for mood, motivation, and to some degree energy levels – if these are low, then Depression is often the result, but even aggression and alcoholism are symptoms sometimes found in men).  Pregnant women may encounter extreme Post-partum depression.  Also, things like Fibromyalgia, Chronic Fatigue Syndrome, Migraines, IBS (Irritable Bowel Syndrome), Memory loss with Alzheimer’s and Dementia and other psychiatric problems can be tied to this issue (OCD, Bipolar, Schizophrenia, and more).  These challenges are typically more related to the 1298 gene mutation.

 2.  Cardiovascular problems often occur when Homocysteine levels in the body are too high.  Heart attack, Stroke, Blood clotsPeripheral neuropathy, Anemia even Miscarriages and Congenital birth defects can be related to this issue among others.  These problems are typically more related to the 677 gene mutation, but the worst is for a person who has one 677 variant and one 1298 variant.

 3.  Environmental poisoning can increase when not enough Homocysteine gets converted into Glutathione.  Glutathione is responsible for detoxifying the body of the heavy metals we encounter in the environment – it is our body’s most powerful antioxidant.  When a body gets too burdened by heavy metals and toxins, a lot of unexpected health problems emerge.  Some symptoms of this can be: nausea, diarrhea, abdominal pain, liver and kidney dysfunction, hypertension, tachycardia, pulmonary fibrosis, asthma, immune problems, hair loss, rashes and more.

MTHFR is at the top of a list of 16 genetic defects for autism.  Another study showed 98% of children with autism had one or both of the MTHFR gene defects (677 and/or 1298).  A recent clinical study indicated that mothers with MTHFR who didn’t take folate during pregnancy were 7 times more likely to have an autistic child than mothers without the MTHFR gene defect.  Colon and gastric cancers also have key links to the MTHFR gene defects, just do an internet search on ‘MTHFR and colon cancer’ or ‘MTHFR and gastric cancer’ and you will find many clinical studies and articles on the subject.

*** OK- incase you are reading this after discovering you have this one or more of these gene mutations and this is scaring you, don’t let it. This is information. Information is power. Decide to do everything you can to  build your health as much as possible starting today. The health issues I currently have are all controlled with proper diet & supplementation.  I have had 3 healthy pregnancies and three healthy children. When I started taking folate instead of a multi with folic acid I started feeling 110X better, so start there!! This diagnosis is NOT a death sentence, so don’t act like it is.

SO, what to do if you have a MTHFR mutation:

1. Find some good supplements. **And Yes, supplements are important because if you have a MTHFR mutation your body is not going to convert folic acid you are getting from food.

Don’t take a vitamin supplement that your body can’t convert properly. B-9 as folic acid and B-12 as cobalamin are NOT good options for an MTHFR gene mutant.  Make sure you bypass mutated B vitamin pathways and take the already transformed version of the vitamin enzymes: Methylfolate for B-9 and Methylcobalamin for B-12.  These are harder to find, especially in a multivitamin, but definitely available.

The multivitamin I am currently taking is from Seeking Health . They also have a very good Active B12 Lozenge With L-5-MTHF – 60 Lozenges as well as a ton of info relating to MTHFR. Dr. Ben Lynch who formulate the supplements actually has MTHFR mutations himself. He also offers MTHFR Test – MTHFR Genotyping Laboratory Test, if you choose not to have these done through your Doctor.

Joel Fuhrmien also makes a good multivitamin with folate instead of folic acid. I learend a lot reading Eat to Live by Joel Fuhrman and listening to some of his recommendations. I am not an affiliate of his, but I do really respect his work, there is a ton of science behind it.  Although he does not specifically address MTHFR, you can read what he has to say about a multi HERE.

2. Pay VERY close attention to your diet. 

I’m still going to say everyone is different so you have to  get to know YOUR body and find what works best for it!!

plaeo prymid EAT WHOLE REAL FOOD!!! For Pete’s sake, give your body a fighting chance!! It is NOT going to be able to fight off all of the things it MAY have against it if you are fueling with crap!!! Stop eating processed food as much as possible!!

Cut out GLUTEN. At least cut it for a month and see how you feel. Dr. Lynch has a ton of info on this if you go to his site. But I will tell you my memory and my energy levers are 110 times better since I have stopped eating anything with gluten in it.

Cut out SUGAR!!! I mean it!! Read every label you have in your house- it is hidden everywhere!!!

Dr. Lynch recommends a Paleo diet. (when I say diet here you KNOW I mean lifestyle, not diet!!) A Paleo diet is mainly meats and vegetables, some fruits, some seeds, some nuts, healthy fats, no gluten, beans, grains, or most dairy. A huge part of eating Paleo is the source of your meat- it needs to be as natural as possible-  beef needs to be grass fed, chickens free range, etc. If you want more info on eating Paleo, NERD Fitness has a great article. I LOVE the book Practical Paleo by Diane Sanfilippp, she has a blog/podcast: Balanced Bites. Dr. Lynch recommends Robb Wolf, I have not read any of his work personally, but from what I understand it is more of the science behind this way of eating. I am also reading It Starts With Food it comes from the Whole9 Life site, who started the Whole30 so many people are doing. I love this book and plan to do a Whole30 after my last race of the season. I am really looking into this way of eating, and will probably write a blog post on it soon.

I have noticed HUGE improvements in my energy levels, my memory, my digestion, and my ability to focus (ADHD) when I changed my diet to whole/real foods. The most important change I made was cutting out gluten, but I am also avoiding sugar and processed food in general. I am tracking and limiting carbs and feel much better without my blood sugar jumping all over the place. I have also measurable increased my healthy fats, mainly through coconut oil.

I will add to this page as  learn more 🙂


One Response to “MTHFR”

  1. hollytietjen September 19, 2013 at 7:00 pm #

    Great MTHFR information!! Thanks for posting.

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