People inherit one MTHFR gene from each parent.
Every one of us has two MTHFR genes.
MTHFR stands for Methylenetetrahydrofolate reductase.
It is an enzyme that causes the amino acid homocysteine to break down.
The ability of the enzyme to function normally and fail to completely inactivate homocysteine that then leads to high levels of this amino acid is impeded when the enzyme mutates.
It also leads to low levels of vitamins and folate.
With this, the idea of different health conditions being influenced by this MTHFR gene mutation has been worrying people and has resulted in having more tests conducted over the years.
Gene mutation can either affect one (heterozygous) or both (homozygous) of the MTHFR genes we have.
Having a heterozygous mutation leads to fewer probabilities of having health issues because of the mutation.
On the other hand, homozygous mutations are believed to cause serious problems.
The two known MTHFR mutations are C6777T and A1298C.
Statistics show that MTHFR gene mutations are evident in an estimated 25% of people of Hispanic descent and a percentage between 10 – 15% of Noth American Caucasians.
These percentages fall under the C677T type of MTHFR and possess homozygous variants.
Data for A1298C are limited although there are geographically or ethnic-based researches regarding this variant.
However, it has been proven that the possibility of acquiring both C677T and A1298C gene mutations exist.
Underlying conditions in having MTHFR gene mutations
As mentioned earlier, the MTHFR gene mutation leads to high levels of homocysteine.
Different conditions involving high levels of homocysteine are hypothyroidism, obesity, inactivity, diabetes, high cholesterol, high blood pressure, mental health disorders, glaucoma, birth abnormalities, and some types of cancer.
The diagnosis of these conditions is mainly focused on high levels of homocysteine.
MTHFR is associated with these conditions when the following are diagnosed together at the same time: high homocysteine levels, vitamin deficiencies in choline, folate, vitamins B-12, riboflavin, or B-6, and a tested and confirmed MTHFR mutation.
Conditions linked to MTHFR mutations are:
- Ataxia, a condition in the nervous system that causes coordination issues
- Peripheral neuropathy, a neurological concern where nerves are damaged
- Microcephaly, evident at birth, a condition where the head is abnormally small
- Anaemia, a deficiency of healthy red blood
- Scoliosis, a spinal condition where abnormal curvature is observed
- Homocystenemia, a condition present in the blood or urine in which homocysteine levels are higher than usual
- Depression and other mental health and behavioural disorders
- ADHD or attention deficit hyperactivity disorder
- Cardiovascular diseases like strokes, heart attacks, and blood clots
People who have MTHFR gene mutations are advised to take preventive measures that help in lowering levels of homocysteine.
These preventive measures are through choosing to live a healthy lifestyle.
In living this healthy lifestyle, one must not smoke.
If you are a smoker, it is best to undergo withdrawal therapies for addiction to tobacco.
Moreover, exercise is also an important component of healthy living, together with eating a healthy and balanced diet, free from alcohol and other food that causes different health conditions.