Understanding MTHFR Gene Mutation Testing

Understanding MTHFR Gene Mutation Testing

The condition MTHFR mutation which is a genetic condition characterized by high levels of the amino acid homocysteine has been under serious scrutiny over the years. There are ongoing studies to understand the condition better and how it can affect the human body negatively. While it is normal for there to be an excess level of protein in the body or the other sense a deficiency, there are worries about how it can cause problems for the offspring of parents who suffer from the condition.

But while we won’t be spending time on why you should be worried if you happen to have excess amino acids levels or a deficiency of folates, what this article focuses on is the breakthroughs in the area of MTHFR gene mutation testing. 

What is MTHFR Gene Mutation? 

It is only right that before we progress on the topic, we shed light on MTHFR gene mutation so you can better understand the subject if you are unaware of what it is. And not to worry, it is not another street slang for cursing someone’s parent. methylenetetrahydrofolate reductase which is shortened as MTHFR is a gene mutation that is common mainly in adults. This website link here https://www.medicalnewstoday.com/articles/326181 has more on the methylenetetrahydrofolate reductase mutation if you want detailed information. 

There are claims that it starts earlier on because offspring collect their genetic encoding from their parents. But it is possible that most people won’t show any signs of this condition until they get to adulthood. And they will only become aware when there is an underlying health issue that makes them go for further testing. 

You may only discover after your doctor diagnoses the high levels of homocysteine and a deficiency of the essential vitamin B needed by the body to support healthy function. But you want to know now that current findings suggest that the condition is not life-threatening. Only that you will have to contend with symptoms that make it like searching for a needle in a haystack when it comes to diagnosing the condition. This is due to the many similarities with symptoms of other ailments. 

MTHFR and Folate Relationship 

The enzyme methylenetetrahydrofolate reductase is responsible for the conversion of folic acid into the form that is usable by the body known as L-methylfolate. The derivative of the folic acid conversion L-methyfolate plays important role in the body like the production of neurotransmitters such as norepinephrine, dopamine, and serotonin which helps in mood regulation. 

Ideally, the body needs folate to be able to produce red blood cells. And while it is possible to obtain folate from diets rich in vitamins, or by consuming folate supplements, people with an MTHFR gene mutation find it hard to convert folic acid into L-methylfolate. And in such cases, methylenetetrahydrofolate reductase testing is required to know the extent of deficiency in the amino acid. 

MTHFR Testing 

Testing will need to be carried out by health care experts who understand MTHFR gene mutation testing to make the proper diagnosis. This is done to determine the extent of variation in the MTHFR gene of an individual. The reason for this varies and in many cases is needed to determine whether a person could benefit from the use of folate supplements in managing depression. 

To know this, the test results will show if or not there is a variation in a person’s methylenetetrahydrofolate reductase gene by looking into the C677T diversity in the genetic encoding.

Safe Treatment Options for MTHFR Mutation 

The use of supplements has always helped with vitamin and mineral deficiencies in the body. And in the case of a reduction in the activity of MTHFR, two treatment options are available by way of supplementation.

Folic Acid

It only seems right that the addition of folic acid in the form of supplements will be ideal for taking care of any deficiencies in the amino acid in the body. But health care experts aren’t sure if this is the right approach for dealing directly with the related gene mutation. This is even more so as research into the use of folic acid supplementation to manage depression hasn’t provided a clear result. In some cases, it was discovered that including antidepressants with a folic acid treatment could improve symptoms of depression.

In other cases, there weren’t any signs of added benefits with the treatment method. But since there is still ongoing research to determine which treatment option is best for MTHFR mutation after testing, there is still room for further discoveries.


Again, using L-methylfolate supplements has been successful when added to a medically approved antidepressant for managing depressive symptoms. But studies are still sketchy, since the only available data is from a particular case where the action of L-methylfolate supplementation was evaluated in a patient with a known MTHFR C677T genotype. 

Still, the findings were inconclusive as there was a need for further studies and examination of many patients to draw a medically certified conclusion. It is thought that as time goes on and with further studies, there will be a breakthrough into the extent to which the use of amino acid supplements and antidepressants can help manage depression. 

Testing for MTHFR Mutation at Home 

It is possible to discover genetic ancestry with test kits that can be used at home and sent to a lab for further analysis. You will have to first speak with your doctor to know about the upside and downsides to carrying out such a test. It is also mandatory that you clarify from your insurance provider to be aware of the extent of your medical coverage. This website has more on how to test for genetic ancestry at home. 

Bottom Line 

More than often, deficiency in minerals and vitamins can be resolved by making diet changes and the use of the right supplements. But when it comes to solving issues that are thought to be hereditary in the case of gene mutations like MTHFR, you will need to meet with a specialist to get a clearer understanding and make a proper diagnosis.