MTHFR Mutation Explained In Plain English
Advances in genetic testing has opened up a whole new world of nutrition science. And one of the more common and well studied genetic variations is known as an MTHFR mutation. (bell chimes) Firstly, MTHFR really looks like an abbreviation of a bad swear word.
But it's actually an important enzyme in the body and it stands for Methylene tetrahydrofolate reductase. I practiced that before. MTHFR is necessary for Methylation to occur which is a metabolic process that switches genes on and off, repairs DNA and many other important things. Methylation is also essential to convert both folate and folic acid which are each a form of Vitamin B9 into its active form that the body can use. With the enzyme activity of MTHFR, conversion of folate and folic acid into a form that the body can actually use will not occur. The production of that MTHFR enzyme is triggered by the MTHFR gene.
Now a variation or defect in that gene is known as an MTHFR mutation, and its thought that 30 to 50 percent of us carry a defect in this gene. Now this part's important. Most people with a mutation remain unaffected and do not experience any adverse symptoms this is because the mutation is not inherently dangerous, in fact genetic mutations are very common.
It's the reason that we all look and behave differently from one another. However for those who are sensitive to this mutation, enzyme efficiency can drop down to between 30 to 70 percent depending on the type of mutation. Now this means they do not convert folate and folic acid into their active form very efficiently.
The consequence of this is increased levels of homocysteine which is a strong independent risk factor for heart disease. Now those who are sensitive to the mutation are also more likely to develop a folate deficiency and therefore are at increased risks for health problems if their diet is not folate rich. Now what about its influence on cancer, autoimmune diseases Alzheimer's disease and other disease states? Considering our genes are influenced somewhat by our diet and environment, many studies are able to find a weak link between MTHFR mutations and a particular disease process or disability. But a link does not prove cause and effect. An MTHFR mutation could very well contribute to heart disease or folate deficiency but that's because of the direct effect that it has on homocysteine levels. Researchers understand that mechanism. But with the current evidence available it's a really big stretch to claim that the mutation is a direct cause affect of other disease states or disabilities. Innocent until proven guilty.
There's one other area of health when an MTHFR mutation can be influential and that is during pregnancy. This is because active folic acid is highly protective against Neural Tube Defects of newborns, like spina bifida. That's why all pregnant women are encouraged to take folic acid supplements during the first trimester.
And the problem is that the folic acid supplements are less likely to be protective if it does not get converted to into its active form. So in that sense testing and flagging an MTHFR mutation could be particularly useful, especially for women in childbearing age or if you have had recurrent miscarriages. Remember that genetic testing should only be used as a tool to support you in better health. Having a genetic variation or mutation does not necessarily mean it will affect your health. As they say, "genes load the gun, but it's your environment - which is your lifestyle and your diet - that pulls the trigger." If you'd like to learn more about MTHFR mutations, please click the link in the description and if you found this video useful please give it a thumbs up and a share.
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