Wednesday, July 11, 2012

MTHFR gene mutation: the 'cause' of Down syndrome?

After a long hiatus from Babycenter I got back to the Down syndrome group there.  I do like it.  For many reasons.  There are moms (and once in awhile dads) who need support (like one who noticed how hard it was for her baby to eat once off oxygen - been there done that and thinking about it brings out the stress) and share information.  One mom posted about recent (1994 I believe) discovery of the MTHFR gene mutation.

The way I understand it is there is speculation this could be the 'cause' of Down syndrome.  Not only Down syndrome, but addictions (smoking, alcoholism - run in my family), miscarriages (I've had 2 that I know of), depression, Chronic Fatigue Syndrome (I am always tired, LOL), and much more.

I have a call in to my doctor and I plan to be tested for this.  The next question is what can be done about it.  I will cross that bridge when I get there (and need to read more about it) but some speculate people with the mutation need a lot more folic acid in a more readily available form.

This is something that is genetic, so if I have it (which I do not doubt) then my kids all have it, my siblings probably as well along with other relatives of mine.  I do not see a cause for alarm.  But knowing is half the battle :)

I will say though, if this is 'why' Cal has Down syndrome I do feel a bit of guilt and a sense that something is wrong with me.  I'll get over it.  This is not a new feeling and I still think The Big Guy is in charge and this is truly a blessing because God does not intend for our lives to be easy AND he knows what we need, and Calvin is what/who I need.

----------------------------From the above linked site----------------------------

“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 Alanine is what is supposed to be found there. When mutated, the Alanine 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


  1. It will be interesting if research finds out more about this. Depression runs in my family, and I have a close family member who is an alcoholic, but he's the only one I know of with that severe an addiction. Years ago, everyone smoked, so I wouldn't think too much into that one. Most of my family memebers who smoked have quit now. I have never had a miscarriage, so I don't fit into that group. We just finished doing the Emory University DS research study. They ask about miscarriages, birth defects, and heart defectsbut they don't ask about any of those other health issues.

  2. First, I love your new header. Second, I have my annual check up on Monday and had decided a long time ago that I want to be tested for this. I will let you know the results.

    1. I also have a son with Down Syndrome...and I just got my MTHFR test results back today. I have the MTHFR 1298AC mutation. My 4 year old daughter also has this mutation. If they link that to Down Syndrome...then at least my daughter would be aware of what could happen.

  3. I have read a lot about this and while addictions are scattered through my family I don't fit the rest of the profile. I did just hear a study that said that babies with ds that were born to moms under 35 were because the moms had a higher risk of alzheimers. That does run in my family so that is probably my link. It also makes me feel a bit guilty but I wholeheartedly agree with your conclusion.

  4. I tested positive for one copy of the gene. Not sure what I'm going to do next. I'm thinking about forking over the cash and having Dr. Ben give me advice. He seems legit. I'll keep you posted.

  5. Hi Lisa,
    My name is Luann and the answer to what can help with this MTHFR mutation is taking a special form of Folate that your body can absorb. Our Naturopathic doctor is working with us in this, but first my son Chris, who is 30 years old and has DS, has to be test for his Homocysteine levels and then possibly some other tests. The if he has this mutation, they will test me too. Here is a site with some good info on the special Folate/vitamin B that would help our bodies with the B vitamin/folate deficiency:

    By the way, I live just south of Madison, WI. I can keep you posted as to our outcome and what all tests they'll do. Take care!

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