MTHFR Mutations

Have you heard about the MTHFR gene mutation? If not, don’t worry…it’s relatively new, and it’s mostly just cutting edge functional medicine and anti-aging physicians who talk about it.

Researchers link it to an increased susceptibility to heart disease, colon cancer, stroke, recurrent miscarriage, Alzheimer’s disease, and depression [2,3]. 40% of people have it [4] and I’m one of them (some guys get all the luck!). This article will tell you how to find out if you have it too, and how you can protect your body and influence your genes to combat this common mutation.

What is the MTHFR gene, exactly?

The human body contains over 50 trillion cells, and each cell contains a complete set of instructions for making you. The instructions are encoded in your DNA. Short segments of DNA are called genes. Your DNA is the cookbook, your genes the recipes. Genes encode for specific proteins, and those proteins play a crucial role in the function of the body’s tissues and organs. Humans have about 20,000 genes. [4]

Among those 20,000 genes is the MTHFR gene. Most people have two copies of it. It provides instructions for making methylenetetrahydrofolate reductase (MTHFR). When you eat foods that contain folic acid (vitamin B9), MTHFR converts it into methyl-folate, folate’s active form. This process is super important because methyl-folate plays a role in just about everything your body does.

Methyl-folate keeps your body running through methylation

Methyl-folate is a key player in methylation, the process of adding a methyl group to a compound. Methylation is fundamental to the proper function of almost all of the body’s systems [5]. It’s involved in:

•Repairing and regenerating your cells, tissues and DNA

•Regulating gene expression and protein function

•Synthesizing neurotransmitters that influence mood, sleep, behavior, cognition and memory

•Controlling homocysteine (an amino acid that can damage blood vessels)

•Keeping inflammation in check

•Assisting your liver in processing fats

•Activating and regulating the immune system

•Modifying toxins and heavy metals

Methylation is hugely important!

Those of us with the MTHFR mutation have a defective MTHFR enzyme. We produce 30 to 70% less methyl-folate than someone without the mutation does [6].

That can be bad news. With lower methylation, your performance can suffer, and you have a higher risk of developing many different diseases. But don’t fret: there are ways to increase your methylation and keep yourself running at your best. It’s a simple problem to hack, if you know about it.

Having the MTHFR mutation is an opportunity to eliminate tipping point factors that lead to disease, maximize your methylation, and optimize your diet and nutrition to change how your cells function. [5] Your genes are one of many factors influencing your performance. You determine your future.

Hacking this MTHFR Gene

Download and listen to the Bulletproof Radio interview with Dr. Ben Lynch, one of the foremost MTHFR experts, to get his help and advice. You can also check out his blog to find a lot of research on how to hack your genetics if you have the MTHFR gene mutation.

Here are my top recommendations for hacking the MTHFR gene mutation:

Genetic testing

The first step is to get tested to see if you have this marker and which variations affect you.

Check out these great resources:

Dr. Amy Yasko’s Nutrigenomic Testing: This site will test about 30 methylation single nucleotide polymorphisms (SNPs), or mutations. It’s pricey but very complete – about $500 when I did it.

23andMe is a more affordable saliva test that gives you raw data (with five fewer SNPs tested than in Dr. Yasko’s test) for only $99.  This site allows you to download your genetic data, which can then be used to determine which mutations you have.

LabCorp and Quest Diagnostics also offer genetic testing with a prescription. You remember prescriptions? They’re like expensive permission slips you have to get signed by a doctor before you can get access to your own data.

The labs will provide you with what is called your “raw data,” a number/letter listing of your genes. There are programs (listed below) that can help you compare your results to a typical human genome and identify where you differ. The differences you find are genetic mutations.

Once you have your raw data, upload it here for methylation interpretation:

GeneticGenie

LiveWello

MTHFR Support

You can do this testing on your own for basically the cost of a $99 23andme test. It’s way cool to install the SNPtips Firefox plugin, which highlights the specific SNPs you have whenever they appear on a website you visit, so you don’t have to remember your genes or constantly cross reference.

 

The gold standard is to work with an experienced MTHFR practitioner to determine an effective course of action for your unique genetic makeup. Dr. Lynch’s site MTHFR has an extensive list of trained MTHFR and methylation docs. If you’re “stuck” on a health issue, these are the people who know how to hack it.

Top Ten Bulletproof Hacks for MTHFR Mutation Carriers

Having a MTHFR mutation doesn’t guarantee that you will have any of the negative symptoms or develop the conditions I mentioned previously. MTHFR has more than fifty variants, so it depends on what variants you have, and whether the mutations affect one or both of your MTHFR genes. It’s in our interests as a society to build a world that assumes people have these variants, because people without MTHFR changes do fine on MTHFR-safe foods, but not the other way around.

Having said that – all people with the MTHFR mutation will benefit from these Bulletproof hacks:

1Dr. Ben Lynch says, “Repairing the digestive system and optimizing the flora should be one of the first steps in correcting methylation deficiency”, and that includes treating candida because of the toxins it releases, inhibiting proper methylation.

2Check your supplements. If any of them has folic acid added, stop taking the supplement or switch brands. Your body won’t process the folic acid well, and it can build up inside you.

3Avoid processed foods that have synthetic folic acid added to them.

4Get your folate from natural sources, including cooked, dark leafy greens like spinach, kale, bok choy, and Swiss chard. The Bulletproof Diet Roadmap is a valuable reference for the best greens. You should aim for at least 1 cup or more of dark greens every day.

5Get your homocysteine levels measured. If your homocysteine levels are high, you may have a methylation issue or a B12/folate deficiency. If so, supplement with methylcobalamin (Vit B12), Vitamin B2, Vitamin B6 and 5-MTHF.

6Eat hormone free, grass-fed meats, grass-fed butter or ghee, and organic free-range eggs.

7Remove mercury amalgams from a trained biological dentist.  Avoid aluminum exposure in antiperspirants and cookware. Help remove toxins using liposomal glutathione.

8Supplement with essential nutrients like methyl-B12, methyl-folate, TMG, N-acetylcysteine, riboflavin, curcumin, fish oil, Vitamins C, D, E, and probiotics.  If you are double homozygous for MTHFR mutations (both your MTHFR genes are mutated), you should advance carefully with methyl-B12 and methyl folate supplementation. Some patients do not tolerate high doses.  Avoid taking high doses of niacin (vitamin B3), which can hinder methylation.

9Make time for gentle detox regimens throughout the week.  That can include infrared sauna sessions, Epsom salt baths, and regular exercise or sweating. My favorite detoxers are (you guessed it!) Bulletproof Upgraded Coconut Charcoal and Glutathione Force.

10Avoid exposure to toxins like chemical house cleaners etc. They can inhibit methylation, among other things.

Making Bulletproof choices in diet, supplementation, and lifestyle provides a kick-ass antidote to the MTHFR mutation!

If you have the MTHFR gene defect, please share your experiences to help readers know what has been the most useful information for you.

1.   http://clincancerres.aacrjournals.org/content/10/22/7592.long

2.   http://www.ncbi.nlm.nih.gov/pubmed/23116396

3. http://www.clinchem.org/content/55/9/1742.full.pdf

4.http://static1.squarespace.com/static/505e7a18e4b0a01995610030/t/51509826e4b0910b2442d8d7/1364236326092/Science-2012-Pennisi-1159-61.pdf

5.http://www.blatny.com/Epigenetika2007/2007-11-20/papers/chromatin/Robertson%202005.pdf

6. http://www.ncbi.nlm.nih.gov/pubmed/10679944

TAGS

All humans have certain genetic variations or “mutations” that can influence our health.

One of the more well-studied variations is known as an MTHFR mutation; more specifically MTHFR C677T and A1298C.

Unfortunately, not only is the concept of genetics difficult, but the terminology makes it even more confusing.

This article attempts to clarify what an MTHFR C677T and A1298C mutation is, in a way you can understand.

What is MTHFR?


MTHFR
 is a critical enzyme in the body.

It’s required for a metabolic process that repairs DNA, switches genes on and off, and numerous other important functions (1).

MTHFR is also essential to convert folate and folic acid – each a form of Vitamin B9 – into the biologically active form called L-methylfolate (or 5-MTHF).

Not to be confused with the enzyme, the MTHFR gene provides the instructions for making that MTHFR enzyme. In other words, it “triggers” production of the enzyme.

A mutation in the MTHFR gene may therefore affect enzyme function.

Summary: MTHFR is an enzyme with many important functions. The MTHFR gene triggers production of the enzyme.

What is MTHFR C677T and MTHFR A1298C?

A mutation in the MTHFR gene (also known as a polymorphism, defect or variation) can be passed down from your parents.

What is MTHFR C677T and MTHFR A1298C?

MTHFR mutations are actually quite common, and researchers suspect there are at least 30 different types (2).

C677T and A1298C are the most well-studied and tested MTHFR mutations.

This number and letter sequence refers to what is known as a single nucleotide polymorphism or SNP (pronounced “snip”). The numbers represent the base position, while the letters represent the allele.

This 2-minute 23andme video illustrates the concept very well and explains alleles:

 

Take C677T for example (also written as C677>T)

While a “normal” MTHFR gene would be C677C (c = cytosine), a mutation/polymorphism has made the gene C677T (t = thymine). Carriers of this T allele produce MTHFR enzymes that are less efficient, hence issues associated with an MTHFR mutation (13).

Annoyingly, the gene can also be written with all letters placed after the numbers. So C677T and A1298C can also be written as 677CT and 1298AC, respectively.

Summary: C677T and A1298C are the most well-studied types of MTHFR mutation. They are known as SNPs, with the letters and numbers describing where they are and what they look like.

What Is Heterozygous and Homozygous MTHFR?

MTHFR mutations are typically referred to as heterozygous or homozygous.

The prefix “hetero” means different.

The prefix “homo” means same. Zygous just refers to degree of similarity.

In genetics, hetero- and homo- refers to the two alleles on the gene. For example, for C677T the alleles are C and T, which are different and therefore heterozygous.

Heterozygous

Heterozygous MTFHR means you have one copy of the mutant allele on the MTHFR gene.

Homozygous

Homozygous MTHFR mean you have two copies of the same mutant allele, which is considered more severe. It looks like this T677T, although it is typically just referred to as homozygous C677T.

So homozygous C677T actually means T677T.

Compound Heterozygous

There is also compound heterozygous, which is when you have one mutant allele on both the 677 and 1298 base position.

Summary: In genetics, hetero- and homo- refers to the two alleles (letters) on the gene. A heterozygous mutation means one copy of the mutation, homozygous means two copies.

List of Common MTHFR Mutation Variations

This brief list helps to make more sense of the entire concept.

Remember that the mutation can be re-written with both letters at the end (for example C677T = 677CT) or even just the letters with no numbers (for example CT or TT):

  • MTHFR C677C = normal MTHFR gene
  • MTHFR C677T = heterozygous mutation (one mutation)
  • MTHFR T677T = homozygous mutation (two mutations)
  • MTHFR A1298A = normal MTHFR gene
  • MTHFR A1298C = heterozygous mutation (one mutation)
  • MTHFR C1298C = homozygous mutation (two mutations)
  • MTHFR C677T + MTHFR A1298C = a compound heterozygous mutation

What should I eat with an MTHFR mutation?

Get your free guide here:

Or click here to download the guide.

MTHFR C677T and A1298C and Homocysteine

One of the biggest concerns for those with an MTHFR mutation is the effect it may have on homocysteine levels in the blood.

Homocysteine is an amino acid linked to a wide range of health problems, and is an independent risk factor for heart disease, stroke and other forms of cardiovascular disease (456).

It is naturally formed in the body, but gets broken down (recycled) by L-methyfolate (active folate). Said another way, a lack of L-methylfolate can lead to an increase in homocysteine.

Although diet and lifestyle are major influences, your genetics are thought to be responsible for between 45-60% of the variance in plasma (blood) homocysteine levels in normal adults (78).

Of that genetic variance, C677T mutations are thought to account for between 24-53% of all cases (7).

Research shows that regardless of how much folate you consume, homozygous C677T (T677T) subjects always have significantly lower folate levels than heterozygous C677T. Subsequently, they also have remarkably higher homocysteine concentrations than everyone else; most pronounced when folate intake is low (9).

Folate vs homocysteine

Other research confirms that both homozygous C677T (T677T) and compound heterozygous (C677T + A1298C) are linked with higher homocysteine concentrations and greater risk of heart disease (10).

It was concluded that a heterozygous A1298C mutation on its own does not influence heart disease risk.

Summary: High homocysteine is an independent risk factor for numerous diseases. Those with a homozygous or compound heterozygous MTHFR mutations are more likely to have elevated homocysteine and greater risk of heart disease.

Which MTHFR Mutation Is A Problem?

Heterozygous MTHFR mutations seem to have only minor influences on enzyme activity and health.

Heterozygous A1298C is thought to be of minor consequence (if any), while heterozygous C677T may affect folate metabolism by up to 35% (311).

MTHFR mutations that have the greatest influence on health are:

  • Homozygous A1298C (C1298C) and homozygous C677T (T677T)
  • Compound heterozgous A1298C + C677T

Compound heterozgous is considered the most severe or “at risk”, but it is thought that homozygous mutations can inhibit MTHFR enyzme function by up to a whopping 70% (11).

Remember that MTHFR mutations don’t directly make you unwell. But they may cause an exaggerated response to poor diet or lifestyle choices that others can “get away with”.

This is why dietary considerations are fundamental for certain MTHFR mutations.

As the saying goes, “Genes load the gun, environment pulls the trigger.”

Always consult with a Dietitian or health professional who can give context to your results and specific situation.

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