What causes Down syndrome, MTHFR?

NutriWhite, in its commitment to providing cutting-edge information based on scientific evidence and to helping answer questions that can contribute to the prevention of syndromes and diseases, took on the important task of translating from English to Spanish the article by Dr. Ben Lynch: "What Causes Down Syndrome? MTHFR?"

Dr. Ben Lynch is the author of the best-selling book Dirty Genes (available on Amazon) and the President of Seeking Health, a company dedicated to educating both healthcare professionals and the general public on how to overcome genetic dysfunctions. He also oversees testing at Strategene.com. He holds a PhD in Naturopathic Medicine from Bastyr University.

In this article, backed by research studies and his deep knowledge of methylation pathways and MTHFR—also called the folate cycle—he offers answers to this major question.

Everything NutriWhite expresses or shares is always based on what science, researchers, and experts support with evidence:

We know you're looking for answers.

Why?
Do you have a child with Down syndrome, or do you want to minimize the risk of having one?
Whatever your answer may be, this information could help you.

First, I want to make it clear that there is no “established path” to reduce the risk of Down syndrome, except having children before the age of 40.
That’s all there is. And that is also unacceptable.

Why do many women who are much younger than 40 also have children with Down syndrome?

Let’s start by discussing a few points that may help if you already have a child with Down syndrome:

If you have a child with Down syndrome, it is NOT because you did something wrong.
It’s because you didn’t have the information that could have helped reduce the risk.

What we present here is truly cutting-edge information.
And we must share what we know.

My goal is to help. Please keep that in mind.
The last thing I want is to hurt anyone’s feelings—including yours.
I want to empower you and give you hope.
I want to raise awareness and create lasting change.
I want to reduce the known causes that lead to Down syndrome.
I also want to help those with Down syndrome.

In general, healthcare professionals know little about the causes of Down syndrome.
If the professionals don’t know, then how are you supposed to know?

If you have a child with Down syndrome, there is so much you can do to keep them HEALTHY and VIBRANT.

Below, we share an article by Ben Lynch, a specialist in genetics and epigenetics:

A friend and colleague, Dr. Érica Peirson, runs a clinic dedicated to children with Down syndrome.
She is by far an expert in the treatment of Down syndrome. I encourage you to learn more about how she can help your child.

My goal right now is to inform you of what I believe causes Down syndrome.
As with many conditions and symptoms, there are several contributing factors—rarely just one.

How do we find out what they are? I believe in research.

The U.S. National Library of Medicine is where I found my information.
I also looked into genetic studies.

Take a look at the polymorphisms—some very common—that are known to cause Down syndrome.

What is the most studied gene associated with Down syndrome?‍

MTHFR

This is big. Let’s go deeper.

How many of the top 10 researched genes are in the folate pathway?
Four (4): MTHFR, RFC1, MTHFD1, SLC19A1

But we’re not done!
Let’s go deeper into another key pathway during pregnancy that has also been shown to contribute to Down syndrome: the methylation cycle.

Key genes involved include: MTRR, MTR, CBS

One of my children has 6 out of 10 of these known genetic polymorphisms that are known to contribute to Down syndrome.
He is doing well.

So, is it just genetics?
No. Definitely not.

Lifestyle, diet, mindset, environment, and nutrition all play a very important role here.

What causes Down syndrome also has a lot to do with the mother’s genetics—and epigenetics.

Again, it’s not just genetics, because genetics is influenced by so many factors—as mentioned earlier.

It is well known that genetics is affected by lifestyle, environment, infections, diet, and nutrition.

If that’s the case—and it is—then why aren’t more healthcare professionals researching and educating themselves about what causes Down syndrome?
They’re busy. They don’t have the time.

Now it’s up to you to share this article—which cannot be refuted.

Here is some of the evidence: 94 publications taken from the U.S. National Library of Medicine using the search term “MTHFR Down Syndrome”.

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Let’s be specific:
Published in September 2016, the meta-analysis titled “Maternal MTHFR polymorphism (677 C-T) and risk of Down’s syndrome child” states:

“Down syndrome (DS) is the most common chromosomal abnormality, occurring with a prevalence of 1 in 1200 births (Pathel and Adhia, 2005).
Many studies have reported that elevated homocysteine levels and the presence of the MTHFR 677 C-T polymorphism impair folate metabolism and result in DNA hypomethylation, which leads to trisomy of chromosome 21 (James et al., 1999; Fenech, 2001).
The results found in the literature are contradictory, possibly due to small sample sizes, making it difficult to clarify the role of a single nucleotide polymorphism (SNP) in the risk of DS.
This meta-analysis was conducted to understand whether the MTHFR mutation is a risk factor for DS.”

They found:

“It is suggested that the TT genotype significantly increases the risk of DS. However, the risk varies by ethnicity and DS results from the interaction between genetics and environment.”

“Our study has some limitations:
We analyzed only one polymorphism, the analysis was not adjusted, and no environmental factors were considered; non-English publications and unpublished reports were excluded.
Nevertheless, the advantages were: this meta-analysis included a higher number of studies (37), overlapping studies were excluded, and subgroup analyses were performed.”

When conducting research, variables must be limited.
It’s not feasible to have a large number of moving parts in a study, as that can hinder results.

As previously mentioned, four genes in the folate pathway are strongly studied as contributors to Down syndrome.

What is the #1 recommendation always given to pregnant women around the world?‍

To take folic acid. And there lies the problem.

Folic acid has to pass through many barriers in order to actually be useful to the body.
These barriers are genes—and many of these genes have problems.

Research on Down syndrome shows that four key genes in the folate pathway are affected.

What’s the problem?

These folate-related genes don’t produce fully functional enzymes.
The enzymes made by these dysfunctional genes are slightly defective, which slows down their ability to convert folic acid into active, usable folates.

And yet, public health authorities and healthcare professionals still recommend folic acid?
Are they recommending exactly what needs to pass through all those genetic “gates” to support activated folate and methylation?

And yet—both folate and methylation dysfunction are known to contribute to Down syndrome.

Let’s take a closer look:

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Folic acid must pass through eight genes to be converted into the number one form of folate: 5-MTHF.

Did you know that 5-MTHF is now available as a supplement?
Did you know that 5-MTHF has been present in vegetables since the beginning of time?

Let me add this:
Why do healthcare professionals and medical organizations recommend folic acid when 5-MTHF is available?

It’s shocking.
There is no reason.
It needs to stop.

If you're trying to understand what causes Down syndrome, here’s my advice for you:

• Don’t use folic acid.
• Eat natural folate, found in leafy green vegetables.
• Take prenatal vitamins that contain 5-MTHF and other active forms of nutrients.
• Check your homocysteine levels before pregnancy and make sure they are between 6 and 10. (Too low is not good, and neither is too high.)
• Read the article “MTHFR and Prenatal Supplementation.”

Take a moment—actually, take 26 minutes—and educate yourself on just how harmful folic acid can be during pregnancy.

Want to see what your genes look like?
Take the 23andMe test or use Genos Research.

When you have your results, analyze them with StrateGene.

This is the StrateGene report for my son, showing his pathway through the folate cycle.

As you can see, my son has a slow MTHFD1 and an MTHFR with SLC.

My wife did take folic acid during pregnancy, because we didn’t know the harm we were causing at the time.
She ate enough salad, and her homocysteine levels were normal.

This shows you that even with genetic issues in key pathways, it’s possible to live a “normal” life.

The key is understanding that genetic susceptibility increases the need for caution.

Genetic studies are empowering. Or at least they should be.

Another important point: my wife does not have the MTHFR C677T homozygous polymorphism.

Remember, many research papers are focused on studying the mother’s genetics.
This is extremely important and the reason why I strongly recommend preparing women before pregnancy.

Need more information about how harmful folic acid can be? Want to go behind the scenes?

Ben Lynch has created a free one-hour presentation.

We hope this has been helpful.
There is a lot of information out there—take your time.

What has been presented here informs us of the many possible causes of Down syndrome.

The key is to share this empowering information with your healthcare provider.

Translated by: NutriWhite
Article written by: Dr. Ben Lynch on September 28, 2016, in MTHFR Mutations
Original English article available here.