Breakthroughs in MTHFR Gene Mutation You Should Be Aware of

Only recently did I come to grasp the meaning behind MTHFR. Up until that point, I mistakenly believed it to be some form of slang or expletive whenever I encountered the term on the internet or in various medical writings. For those who are not familiar with what the acronym stands for, it actually refers to methylenetetrahydrofolate reductase.

This is used to relate to a mutation in the gene that could cause a high concentration of amino acid homocysteine in the blood and a deficiency of lysine and other essential vitamins in the body. There have been speculations that the mutation of MTHFR in the genes has been the reason behind some health issues. And they have been a need for testing to decipher the extent to which it can cause damage to the human system.

Understanding Homocysteine

Before you begin to understand the nature of MTHFR mutation, you first need to know the role homocysteine plays in the body. Based on clinical findings, there is a correlation between homocysteine and protein formation which is understandable as a high concentration of protein in the blood can be something that will trigger adverse effects on the central nervous system.

It is proven that elevated levels of the amino acid homocysteine can lead to stroke, heart disease, and dementia. And these are all problems of the CNS. Its basic function in the body is to work on B-vitamins in two ways. It works on the B-vitamins to convert it to methionine which is an amino acid that is responsible for the synthesis of proteins. Secondly, by the action of B-vitamins, it is converted to cysteine which is obtained by the further synthesis of methionine to responsible for the reduction of inflammation.

Cysteine also helps with promoting liver health and immune cells communication. These are the roles it plays in the body when there is an adequate secretion of the amino acids. But the MTHFR mutation is the condition that arises when there is an elevated secretion of the amino acid homocysteine. You can find more here on the amino acid homocysteine.

Understanding MTHFR Mutation

Before you understand the symptoms of MTHFR mutation, you should understand the different variants as the symptoms differ depending on the variants and the individual’s body morphology. It is important that at this point you understand that studies into MTHFR mutation are still taking place and there is not enough evidence to support the claims below. But you want to know the progress being made which was the reason behind this article in the first place.

Now that we’ve got the disclaimer out of the way. The two known variants are the C677T and the A1298C which are positions of the gene in the body. The condition is termed to be heterozygous when the individual has only one of the variants. It is however homozygous when one suffers from more than one variant. The heterozygous variant is thought to leave the individual with a not-too-serious health issue.

But people with the homozygous variant will surely suffer serious health problems. Since genetic encodings are obtained at birth from parents, if you have a parent with MTHFR mutation, you will suffer from the heterozygous variant and if both parents have an MTHFR mutation, your chances of acquiring both variants are high. This link has additional info for understanding the condition better.

Symptoms of MTHFR Mutation in the Gene

Given the studies over the years and the available data up till now, it is believed that the variants and the individual morphology determine the symptoms that will be exhibited. Since everything is still basically speculations as there is still in-depth research to come to a conclusive clinical decision on the symptoms, let’s just go with the available hypothesis and share the symptoms as published in many medical studies to date.

  • Migraines
  • Colon cancer
  • Depression
  • Schizophrenia
  • Anxiety
  • Bipolar disorder
  • Nerve pain
  • Women of childbearing age suffer from reoccurring miscarriages
  • Cardiovascular diseases
  • Acute leukemia

How to Test for MTHFR Mutation in the Gene

Diagnosis is needed to be able to conclude whether the individual is only suffering from elevated levels of homocysteine or other related health conditions. Checking with your doctor is the surest way to conclude making a diagnosis when it relates to MTHFR mutation. They will check the rate of symptoms and clear with other available medical experts in the field of gene mutation to ascertain whether it’s a heterozygous or homozygous condition.

You can use the web to check for home testing kits for MTHFR mutation as some research facilities are already ahead of the pack to make breakthroughs on the subject. Many of the available test kids will have you taking saliva or a nasal swab which aims to collect DNA samples for testing at the lab. After carrying out the test, you will need to send it to the lab for further analysis.

Treatment Options Available

Some available research suggests that it is not always an intensive treatment that is needed for treating MTHFR mutation. You could manage deficiency in cysteine by taking a managed dosage of vitamin B supplements daily. But it is in cases where the patient has an elevated level of homocysteine that intensive treatment is prescribed.

There is also a method currently employed where doctors try to manage the condition responsible for the MTHFR mutation or by administering treatment for the medical conditions causing elevated levels of homocysteine if any. Some of the life changes that help manage MTHFR mutation include quitting smoking if you do, taking a balanced and healthy diet, exercising, reducing your weight if obese among others.

Bottom Line

As mentioned earlier, there is still a need for ongoing studies to determine the extent to which MTHFR gene mutation could affect normal health functions. But it is a known fact that an elevated level of homocysteine and deficiency in lysine and other vitamins can easily be reversed with the right B-vitamin supplements. An adequate medical checkup is required for further diagnosis of symptoms related to the condition.

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