Mother Effer Mutation- Are You At Risk?

Scott Braver
5 min readMay 29, 2021
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It’s a fun play on words with this genetic mutation. Technically, the MTHFR mutation stands for methylenetetrahydrofolate reductase, but that’s a mouthful and boring to say.

Some in the medical community with a sense of humor call it the Mother Effer mutation. By and large, it is a pretty serious genetic mutation that has impacted roughly 40% of the population and can be a risk factor for heart disease, B12 deficiency, mental health problems, can lead to vitamin D deficiency, and renders many B vitamins useless due to the methylation pattern needed in the liver.

All that means is that there are several factors that can be affected by having this genetic mutation and knowing if you have it could save your life or prevent an unnecessary prescription medication.

What Does The Mother Effer Do?

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There are some variants of the MTHFR mutation, however, I don’t want to spend time going down each one of those, rather, I want more information known to the populus so you can make an informed decision about your health care and know some preventative measures to take place.

That mutation has been closely linked to a blood level called homocysteine. Why that is important is it is a newly identified risk factor for heart disease.

Homocysteine is broken down in the liver by converting methionine to cysteine. Although this mutation is usually caught earlier in childhood if there are significant side effects, most are insignificant and many don’t know they are at risk without doing genetic testing.

Yes, genetic testing is quite expensive, however, there are several third-party testing organizations that can let you know if you have the mutation for a very reasonable price!

Companies like 23 and Me and Ancestry are just a few of the organizations that can give you affordable knowledge of something like this.

What happens if you have the mutation? Well, it can obviously play a role in your liver metabolism. Associated issues can be neural tube defects if you are of childbearing age. Malabsorption is a very common side effect that can play a role in our symptoms. It can also lead to severe joint issues along with optical complications. Even some cancers have been linked to this deficiency!

It is certainly something not to just sweep under the rug. We all know that preventative medicine is the best medicine and it is often disregarded due to cost or unwillingness.

Getting these little checks is just like doing an oil change on your car. Sure it will work if you go past the mileage, but it won't run forever without the proper checks!

Complications of MTHFR

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We can see that MTHFR has its hand in many metabolic processes- ranging from cardiac to optic, and everything in between.

The biggest issue I see is people are horribly malabsorbed with their B vitamins- even if they are eating meat products or green leafy vegetables. Their body simply cannot convert the food into the appropriate pathway for the liver to actively use it and disperse it to where it’s needed.

As a result, we tend to have B12 deficiencies, which often display as a large, flat, and reddened tongue, mental fog, low energy, and some neuromuscular issues.

Another issue that arises is that if we have chronic kidney disease, we can have a harder time filtering excess levels of homocysteine out of our blood. Thus, increasing the risk of cardiovascular events because elevated homocysteine levels are directly linked to cardiovascular and metabolic issues.

Not only that, but Attention Deficit Hyperactivity Disorder (ADHD) autism, thyroid issues, autoimmune issues, and digestive issues, to name a few are closely related to this genetic mutation.

This goes to show, the presenting symptoms might need a deeper look to see what is actually going on.

Medicine is not a quick fix. It is an art and a science beautifully intertwined to help get us feeling better and we need to stop addressing symptoms as segmented issues and look at the whole picture.

More needs to be done when you go to your primary care doctor for “routine screening.” Unfortunately, insurances tend to dictate what is “medically necessary” or more commonly what that monopoly is willing to pay.

This should send rifts throughout our health care system, but insurance companies have deep pockets and deeper connections- so don’t expect anything to change soon.

With that being said, talk to your primary care doctor about checking your folate and B12 levels. Ask for vitamin D levels, look at all your cardiovascular risk factors and see if there is something additional you could be missing that is making you not feel your best.

Remember that food is ALWAYS the best medicine and we if aren’t able to absorb our micronutrients, we will have downstream effects.

Our body is not segmented, it works in conjunction with numerous different processes happening all at the same time.

Treatment Parameters

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Because this genetic mutation has a large impact on our liver and what our liver does for the rest of our body- there are a few things we can do regularly to help support the process and reduce negative symptoms.

The first would obviously be to intake more folate and B12. That can be found in various foods and even in specific supplementation forms.

Eat foods that help support your liver. Have a well-balanced diet that has high protein, moderate fats, and low carbs.

Certainly, no PROCESSED FOODS. Personally, I would also try to limit alcohol consumption as that is a pretty big disruptor in keeping our liver nice and healthy.

Always a good idea to manage stressors and improve your lifestyle with moderate amounts of activity. Much like anything, if we are constantly stressed, that can exacerbate many symptoms we are trying to manage.

In addition to increasing your folate and B12 supplementation, try to add in a good form of magnesium like Glycinate and Vitamin D to help absorb and really maximize the ability of the supplements to work.

I hope that you see a pattern with all the interventions I have listed, not only here, but in prior articles.

Treating the ailment is not the way to fix the problem. We have to start by fixing our lifestyle.

Eat better, stay active, sleep better, and manage our stress. Supplement when needed, but eating real food goes a long way.

Understand there is not a one size fits all approach and head into this with a hopeful heart and a willingness to improve.

Be strong. Be brave.