Why the MTHFR gene is also called the MoTHerF*ckeR gene.

Repeat miscarriages, chronic diseases and the danger of folic acid
With a defect in the MTHFR gene, you could be in for quite a shock. Especially if you are pregnant or want to become pregnant. If you follow the usual advice to take folic acid, you and your child could be seriously harmed. Also, unexplained repeated miscarriages, depression and a battery of chronic conditions are now associated with an MTHFR gene mutation. A real MoTHerF*ckerR, then.

Methylation: a crucial process
The MTHFR gene is responsible for the functioning of the MTHFR enzyme. This enzyme converts folate or folic acid into its biologically active variant (5-MTHF) and is crucial in the process called 'methylation'. This process takes place trillions of times every minute in every cell. It regulates healing, converts cellular energy, regulates genetic expression of DNA, stimulates liver detoxification, optimizes immunity and maintains neurological functions. Quite a thing when that process is not going well. An abnormality of the gene results in a reduced function of the MTHFR enzyme, ranging from 10-20% to as much as 80-100%.

Danger of folic acid
Women who want to become pregnant are advised to take folic acid. But if they have a mutation on the MTHFR gene, they cannot convert the folic acid to the active form. This can cause major problems for the child, including a greater risk of developing neural tube defects, cleft lip, tetralogy of Fallot, failure to close the fontanelle and spina bifida. In the mother, it can mask vitamin B12 deficiency and lead to problems with memory and cognitive functions. It reduces the function of natural killer cells, increasing the risk of cancer.

Vitamin B12 deficiency
Constant vitamin B12 deficiency despite good nutrition and supplements? That too can be a consequence of the MTHFR mutation. You can take vitamin B12, but if your body does not convert it into the biologically active variant, it is of no use to your body. And it is precisely this conversion that is disrupted by this mutation. Consequences of a lack of vitamin B12 vary from fatigue, tingling, memory loss and muscle cramps to problems with concentration, an inflamed tongue, menstrual problems and depression.

From depression and cardiovascular disease to repeated miscarriages
When the methylation process is disrupted, it can lead to elevated levels of the harmful homocysteine. And that increases the risk of an impressive list of chronic diseases including cardiovascular disease, venous thrombosis, pulmonary embolism, CVAs, TIAs, lowered immunity, depression, Alzheimer's, Schizophrenia, Crohn's disease, osteoporosis, complications of diabetes 1 and 2, miscarriages, infertility and cancer. When several of these conditions run in the family, it is possible that they are all linked to an MTHFR defect.

Disruption of neurotransmitters
The MTHFR enzyme is also involved in the production of neurotransmitters such as serotonin, melatonin, dopamine, norepinephrine and adrenaline. These substances are important for a person's mental well-being. Therefore, disruption of the MTHFR gene is also associated with mental disorders such as depression. In 98% of people with autism, there is an MTHFR mutation.

Free play for other bad genes
Scientific research has shown that the body is very good at regulating so-called 'bad genes', genes that are disrupted and initiate harmful processes in the body. The body does this through the process of methylation. Unfortunately, in the case of an MTHFR mutation, this process is disturbed. This means that the way is opened for all kinds of genetically determined defects that our body would normally suppress. Gene regulation also plays a very important role in the development of a fertilized egg into a fetus. Disruption of this can lead to congenital defects.

Disrupted detoxification process
Finally, the methylation process is important for the detoxification of the body. Reduced activity of the MTHFR enzyme can cause toxins to accumulate in the body. This is also linked to an increased risk of obesity: the body protects itself by storing toxins in fat cells. Losing weight is therefore difficult and can even be dangerous because of the amount of toxins that are released.

Treatment of an MTHFR gene mutation
There is no one-size-fits-all treatment for people with an MTHFR gene mutation. Because the methylation process is so complex, treatment is customized. It's about restoring the balance so that the interlocking cycles in the methylation process can run smoothly again. What is clear is that taking "normal" folic acid is always harmful for people with an MTHFR gene mutation. Taking the active 5-MTHF or other supplements can be part of the treatment, but the dosage is very specific. Targeted dietary and lifestyle modifications can also help. It can ensure that you get the right, supportive nutrients and that you avoid as many toxins as possible. Eline ten Have-Kerstholt is specialized in follow-up counseling of clients with the MTHFR polymorphism. Through this link you can search for a counselor who is specialized in the interpretation of Igene DNA analyses.

Types of gene defects
The MTHFR gene can be defective at several locations; the most common gene mutations are at position 1298 or 677. The detrimental effect on the methylation process depends on the type of defect. Fortunately, we have two copies of each gene, one from our mother and one from our father. So opposite to a defective gene there can be a healthy gene that saves a little bit. You are then heterozygous (you have two different types). But if you are unlucky that the defect is present in both copies, then you are homozygous and the methylation process can be seriously disturbed.

It's all in the family
You inherit genes from your parents and pass them on to your children. About 45% of the world's population has some form of MTHFR gene abnormality. So the chance that there are defects in your family tree is considerable. People with a gene mutation can walk around with no symptoms, but when - as explained above - there are two broken genes, symptoms can result that doctors will not readily associate with an MTHRFR gene mutation.

So order the iGene DNA kit for MTHFR DNA testing today. You'll find out if you have a mutation in the MTHFR gene, where the mutation is located and whether you are heterozygous or homozygous. This determines the extent to which the function of the MTHFR enzyme is disrupted.

Since summer 2020, the MTHFR gene and the COMT gene are reported in the IGene Health version: