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MTHFR Variants and Their Effective Diagnoses

In 1962, it was reported that many teens developed a severe cardiovascular disease due to a rare genetic condition called homocystinuria. And there was no MTHFR home test kit available back then to detect the mutation. In this rare condition, there was an accumulation of homocysteine in the blood due to a defective enzyme. 

Studies on children with homocystinuria found that elevated homocysteine (amino acid) levels are a risk factor for developing blood clots and atherosclerosis in the arteries and veins. 

Further, the researchers quoted that this rare occurrence in the body was due to a common genetic variant called methylenetetrahydrofolate reductase (MTHFR) that impairs their ability to process folate. This defective gene led to elevated levels of homocysteine in some people who inherited MTHFR variants from both parents.

What is MTHFR?

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MTHFR stands for methylenetetrahydrofolate reductase. It is a gene, and all human beings carry two copies of MTHFR. It tells our body how to create an enzyme to break down the amino acid homocysteine. Every individual is different, so are each one’s DNA. Hence, the DNA code for the MTHFR gene can vary.

Genetic research has identified two variants that either cause harm or benefit to health. They are MTHFR variants – C677T and A1298C.

Let’s Study the Variants

The variants of MTHFR were actively studied in the past few years, and these variants are common. In America, about 25% of Hispanic people, and 10-15% of Caucasian people have two copies of C677T. Studies found that women with two C677T gene variants have an increased risk of having a child with a neural tube defect. 

Also, risks of having one C677T and one A1298C is the same, or possibly slightly lower than that of having two C677T gene changes. Although A1298C has not been found clinically to affect homocysteine levels, it has a larger effect on the production of BH4 (tetrahydrobiopterin). 

It is a cofactor in the production of neurotransmitters such as epinephrine, serotonin, L-Dopa, melatonin, etc. Cardiovascular and neurological systems suffer a huge impact due to the deficiency of BH4.

MTHFR Deficiency Diagnosis

There are various symptoms associated with MTHFR deficiency like blood clots, stroke, embolism, recurrent miscarriages in women of child-bearing age, heart attacks, and pregnancies with neural tube defects, like spina bifida and anencephaly. Even if any of the mild symptoms seem prevalent, you must immediately buy an MTHFR home test kit.

The diagnostic techniques used to identify a deficiency in MTHFR start with testing of homocysteine concentrations in plasma from whole blood samples or total homocysteine measurement in cell-free amniotic fluid. You may measure it using conventional amino acid chromatography or by a radioenzymatic method that determines total homocysteine levels, including free, protein-bound, reduced, and oxidized forms.

Once a diagnosis of MTHFR deficiency is made, treatment begins. For mild deficiency treatment, patients are asked to control their diet and follow folate supplementation. The treatment of severe MTHFR deficiency uses a combination of therapies aimed at decreasing homocysteine levels and maximizing any residual enzyme activity.

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