What Is MTHFR Mutation and What Does It Mean?

What Is MTHFR Mutation and What Does It Mean?

Published by Wonder Laboratories on Nov 5th 2018

Health, nutrition, and supplementation together cover a myriad of topics, and there are times that such discussions have the look and feel of a science fiction novel. Such as when the subject turns to gene mutation, in this case MTHFR mutation, a gene variation that can affect how successful your body is in metabolizing folate and folic acid, both of which are forms of vitamin B9 that play key roles in many key bodily functions. MTHFR is short for an enzyme known as methylenetetrahydrofolate reductase, per An MTHFR mutation is a problem that has been linked to poor methylation and enzyme production, with a prevalence rate that has been estimated as affecting up to 30 to 50 percent of all people, with the mutation inherited by being passed down from parent to child. Those who have this inherited mutation run a higher risk of developing certain diseases or conditions, such as ADHD, Alzheimer's, atherosclerosis, autoimmune disorders, and autism.

Two Main Types of MTHFR Mutation

Per, researchers are currently concentrating on two particular types of MTHFR mutations – MTHFR C677T and MTHFR A1298C, and having one mutated allele is associated with increased risk of certain health problems, but having two increases the risk much more, with allele referring to an alternative form of a gene (one of a pair) that can be found at a specific location on a specific chromosome, per

Which Brings Us to ‘Methylation'

Obviously, one of our intents with this blog today is to expand your scientific vocabulary, but this is all relevant; bear with us. Methylation, per, is a metabolic process in which not only are genes switched on and off, but DNA gets repaired as well as a number of other important processes that take place – all affecting our health one way or another. So yes, you need to be concerned (but not alarmed, at this point; just be careful in terms of knowing your body and what you put into it). Note, though, that most people with a gene mutation don't experience symptoms – they stay unaffected. As per the earlier mention of folate and folic acid, if those two things can't be properly converted into their active form, referred to as 5-MTHF or L-methylfolate, then they can't perform one of their primary missions. That mission is breaking down homocysteine, an amino acid that, while naturally formed in your body, is believed to damage the lining of your arteries and other of your body's cells. Note that elevated homocysteine levels in the blood is a risk factor for various cardiovascular diseases, such as heart disease.

Let's Look at Some Numbers

In fact, let's look at some BIG numbers. In our world of genes, chromosomes, DNA, etc., we start with a human body that is composed of more than 50 trillion cells, per, with each one of those cells embedded with its own unique set of instructions for putting you together. These instructions are encoded into your DNA, short segments of which are known as genes. Your DNA is the cookbook, your genes the recipes, is how puts it. Here's another number for you: 20,000 – that's roughly the number of genes each of us humans have. The MTHFR gene is but one of those, and most people have two copies of it, complete with instructions for manufacturing MTHFR. When you eat foods that contain vitamin B9 (folic acid), MTHFR converts it into methyl-folate, which is folate's active form and an active contributor, via methylation (the process whereby a methyl group is added to a compound) to every conceivable function your body performs, per These indispensable functions include:
  • Repairing and regenerating your cells, tissues, and DNA
  • Managing gene expression and protein function
  • Synthesizing neurotransmitters that influence mood, sleep, behavior, cognition, and memory
  • Regulating homocysteine
  • Controlling inflammation
  • Helping your liver to process fats
  • Activating and regulating the immune system
  • Modifying toxins and heavy metals

Dealing with the MTHFR Mutation

If you have the MTHFR mutation, no question it would be good to know about it, even if you have no discernible symptoms. Start by seeing your physician. As to what you can do about it, here are some foods to be sure to include in your diet, per
  • Folate (not to be confused with folic acid). The list of food sources of folate is long, and it's all good. Included are artichokes, asparagus, bananas, Brussels sprouts, dark leafy greens, flax seeds, potatoes, raspberries, squash, sunflower seeds, and yeast.
  • Vitamin B12. Crucial for the brain, nervous system, and red blood cell formation. Think beef (grass fed), chicken, clams, eggs, salmon, tuna, octopus, shrimp, turkey, and yogurt.
  • Vitamin B6. Avocado, broccoli, cod, garlic, pistachios, pork tenderloin, turnip greens, and yams.
  • Riboflavin (Vitamin B2). Almonds, cheese, cremini mushrooms, mackerel, venison, and yogurt.
  • Vitamin C. Bell peppers, cauliflower, grapefruit, kiwi fruit, oranges, papayas, peaches, and thyme.
  • Vitamin D3. Beef, catfish, flounder, herring, liver, mushrooms, oysters, pork, sole, and tuna.
  • Vitamin E. Apricots, collard greens, peanuts, Swiss chard, and tomatoes.
  • Others Betaine, choline, glutathione, N-acetyl-cysteine, turmeric, EPA/DHA.

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