“What is MTHFR?”
When people ask, ‘What is MTHFR?’, do they mean what is the MTHFR gene or do they mean what is the MTHFR enzyme?
In this article, I am going to provide you the basics of the MTHFR gene.
- What does MTHFR stand for?
- Is MTHFR a gene or an enzyme?
- What other terms are used for MTHFR?
- Where is the MTHFR gene found?
- How big is the MTHFR gene?
- What is the function of the MTHFR gene?
- Why is the MTHFR gene important?
- How much of the MTHFR gene gets mutated?
- Common mutations of the MTHFR gene
What does MTHFR stand for?
MTHFR stands for the methylenetetrahydrofolate reductase gene (methyl-ene-tetra-hydro-folate-reductase).
Is MTHFR a gene or an enzyme?
For some reason, scientists thought they should name the gene MTHFR and also name the enzyme MTHFR. This is confusing and causes confusion especially if MTHFR is not labeled as MTHFR gene or MTHFR enzyme. Think of it this way: a healthy non-mutated MTHFR gene is supposed to produce plenty highly functioning MTHFR enzyme.
What other terms are used for MTHFR?
NADPH is 5,10-methylenetetrahydrofolate reductase. The MTHFR enzyme, made by the MTHFR gene, converts 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate.
Where is the MTHFR gene found?
The MTHFR gene is found on the short arms of Chromosome 1. There are two short arms of chromosome 1. Why? Because one short arm of chromosome 1 comes from the mother and the second copy comes from the father.
How big is the MTHFR gene?
The MTHFR gene is made up of 20,373 base pairs. A base pair contains two DNA nucleotides. A DNA nucleotide is made up of pyrimidines. The MTHFR enzyme actually helps produce pyrimidines – but that is getting ahead of ourselves.
What is function of the MTHFR gene?
The function of the MTHFR gene is simply to produce the MTHFR enzyme. However, if the MTHFR gene is mutated, the enzyme produced is not entirely correct.
Why is the MTHFR gene important?
The MTHFR gene is responsible for making a functional MTHFR enzyme. If the MTHFR gene is slightly altered (mutated), the MTHFR enzyme’s shape becomes distorted. Enzyme function depends a lot on shape. It is similar to the grooves on a key. If the grooves on a key are slightly different than the lock, the key may fit and turn the lock a little but it does not unlock the door.
The genetic code of the MTHFR enzyme must be perfect in order for it to function properly. A dysfunctional MTHFR enzyme may lead to a slew of health problems.
How much of the MTHFR gene gets mutated?
In heterozygous MTHFR mutations, only 0.000098% of the MTHFR gene is mutated. In homozygous MTHFR mutations, the value is basically the same.
This means there is just 1 mistake for a heterozgyous MTHFR gene mutation out of 20,373 steps done properly.
There are 20,373 base pairs making up the MTHFR gene on each chromosome. Remember one chromosome comes from the father and one comes from the mother.
What are the most common MTHFR gene mutations?
The most common MTHFR gene mutations are found at position 677 and/or position 1298 on the MTHFR gene.
At position 677 of the MTHFR gene, a Cytosine is what is supposed to be found there. When mutated, the Cytosine gets replaced with a Thymine.
At position 1298 of the MTHFR gene, an Adenine is what is supposed to be found there. When mutated, the Adenine gets replaced with a Cytosine.
Researchers present MTHFR mutations most commonly like this:
- MTHFR 677CC = a normal MTHFR gene
- MTHFR 677CT = a heterozygous mutation which is one mutation
- MTHFR 677TT = a homozygous mutation which is two mutations
- MTHFR 1298AA = a normal MTHFR gene
- MTHFR 1298AC = a heterozygous mutation which is one mutation
- MTHFR 1298CC = a homozgyous mutation which is two mutations
- MTHFR 677CT + MTHFR 1298AC = a compound heterozygous mutation which is one mutation from two different parts of the gene
Any comments or questions relating to what the MTHFR gene is, please post a comment below.