What Causes Down Syndrome? MTHFR?
by Dr Lynch on September 28, 2016 in MTHFR Mutations
What causes Down Syndrome?
I know you are searching for answers.
Do you have a child with Down Syndrome?
Or do you want to minimize the risk of having a child with Down Syndrome?
Either way, the information here may help.
I want to first state very clearly that there is no ‘defined mainstream way’ to reduce the risk of Down Syndrome except to have your child before the age of 40.
It is also unacceptable.
Why is it that many, who are far younger than 40 years old, are still having children born with Down Syndrome?
First, let’s discuss some points which will help you if you have a child with Down Syndrome.
If you have a child with Down Syndrome, it is not because you did anything wrong.
It is because you did not have information which may have reduced the risk.
What I am presenting here is absolutely cutting edge information.
I have to share what I know.
My goal is to help. Please keep this in mind.
Last thing I want is you to feel anger or the need to blame someone – including yourself.
I want to empower you and create hope.
I want to create awareness and lasting change.
I want to reduce the known causes which lead to Down Syndrome.
I also want to help those with Down Syndrome.
Health professionals, at least all that I’ve talked with, and I’ve talked with thousands, do not know what causes Down Syndrome.
If health professionals don’t know, then how are you supposed to know?
If you have a child with Down Syndrome, there is a LOT you can do to keep them healthy and vibrant.
A friend and colleague of mine, Dr Erica Peirson, runs a clinic devoted to children with Down Syndrome.
She’s by far the leading expert out there in Down Syndrome treatment. I encourage you to learn more about how she can help you and your child.
Here are some free Down Syndrome treatment resources to help you and your child with Down Syndrome:
My goal with you right now is to inform you what I believe causes Down Syndrome.
As with any condition or syndrome, there are many contributing factors. There is rarely just one.
Down Syndrome has many contributing factors.
How do we find out what they are?
I believe in research.
The U.S. National Library of Medicine is where I find my information on a daily basis.
I also look at genetic research.
Take a look at which genetic polymorphisms, some of which are very common, are known to cause Down Syndrome:
What is the most researched gene associated with what causes Down Syndrome?
That’s a big deal.
Let’s go a step deeper shall we?
How many of these top 10 researched genes are in the Folate pathway?
Four (4). MTHFR, RFC1, MTHFD1, SLCC19A1
We’re not done yet.
Let’s dig a bit deeper into another key pathway during pregnancy which is shown above to be contributing to Down Syndrome.
The Methylation cycle.
One of my sons has 6 out of 10 of these known genetic polymorphisms which are known to contribute to Down Syndrome.
He is doing very well.
So is it just genetics?
No. Definitely not.
Lifestyle, diet, mindset, environment, nutrition all play a major role here.
What causes Down Syndrome also has to do heavily with the genetics – and epigenetics – of the mother.
Again, it is not just genetics here as genetics are greatly affected by so many things – as mentioned above.
It is known that genetics are affected by lifestyle, environment, infections, diet and nutrition.
If this is the case, and it is, why aren’t health professionals digging into this and educating themselves what causes Down Syndrome??
They’re busy. They don’t have time.
I’ll give them that.
Now it is up to you to share them this article – which they cannot refute.
Here is some of the evidence, 94 published research papers, taken from the U.S. National Library of Medicine, using the term ‘MTHFR Down Syndrome‘:
Let’s get specific.
Breaking it down makes it easier to grasp and show what action must be taken.
Here is what they found:
Now was it a well done meta-analysis? I think so.
When performing research, one has to limit variables.
It is not possible to have a ton of moving parts in research as that can skew the results. They did what they could.
We mentioned earlier that there are four (4) genes in the Folate Pathway which are heavily studied as a contributor to Down Syndrome.
What is the #1 recommendation for pregnant women across the globe?
Take folic acid.
Here lies the problem.
Folic acid has to bust through many barriers to actually become useful for the body.
These barriers are genes.
Many of these genes have issues.
Down Syndrome research is showing that four key genes in the folate pathway have issues.
What are the issues?
The issues are that the folate genes do not make 100% functional enzymes.
The enzymes produced by dysfunctional genes are slightly defective which slows their ability for one to convert folic acid into active usable folate!
Yet public health and health professionals are recommending folic acid?
They are recommending the very thing that has to bust through barriers in order to support active folate and methylation??
Yet it is known that both folate and methylation dysfunction contribute to Down Syndrome?
Folic acid has to get through 8 genes in order to become the body’s #1 form of folate which is 5-MTHF.
Did you know that 5-MTHF is now readily available as a supplement?
Did you know that 5-MTHF has been readily available in leafy green vegetables since the dawn of time?
Why do health professionals and medical organizations recommend folic acid when 5-MTHF is readily available.
There is no reason.
It needs to stop.
If you are looking to understand what causes Down Syndrome, I have actionable information for you:
- Don’t use folic acid.
- Eat natural folates found in leafy greens
- Use prenatal vitamins which have 5-MTHF and other active nutrients
- Check your homocysteine level prior to pregnancy and make sure it is around 6 to 10. Too low isn’t good and too high isn’t good.
- Read this article on MTHFR and Prenatal Supplementation.
Take a moment, 26 minutes actually, and educate yourself on how bad folic acid is during pregnancy – and what you should use instead.
How do you check to see what your genetics look like?
- Order a 23andMe test or Genos Research
- Once your results come back, run your raw data through StrateGene.
Here is what one of my son’s StrateGene report looks like – in his Folate Pathway:
As you can see, my son has slow downs in MTHFD1 and MTHFR along with SLC.
My wife did take folic acid during her pregnancies, as we didn’t know at the time it was the wrong thing to do.
She did eat salads often and her homocysteine levels were normal.
This goes to show you that even with genetic issues in key pathways, one can lead a ‘normal’ life.
The key here is to understand that one may have increased susceptibilities and this increases the need to take precautions.
Genetic testing is empowering. At least it should be.
Another key point is my wife does not have the MTHFR C677T homozygous genetic polymorphism.
Remember, many research papers are evaluating the genetics of the woman.
This is very important and why I greatly emphasize the need to prepare the future mother prior to pregnancy.
Need more information on how folic acid is harmful?
Do you want to see the science behind it?
I hope this has served you well.
There is a lot of information to wade through here. Take your time with it.
What is presented here strongly informs us all what causes Down Syndrome.
The key is to share this empowering information to your health professional.
Let’s optimize pregnancies.
I believe we can.
Let’s also improve the lives of those with Down Syndrome.
We can do that, too.
Please do share your stories and comments below.
I typically do respond to comments as I learn from you as well.
17 Responses to “What Causes Down Syndrome? MTHFR?”
Excellent post, well the Down syndrome is caused by a random error in cell division that results in the presence of an extra copy of chromosome 21 mainly, thanks!
I dont think it is random.
Hi Dr Lynch,
Thoughts on 22q.11 deletion (aka DiGeorge/Velo-cardio-facial) – cause of and how to supplement for an infant?
Our 4 week old daughter was diagnosed en utero with a congenital heart defect and then 22q after amniocentesis. She had heart surgery on day 2, and we’re still in the hospital working on getting home. Due to various complications, she just started getting breast milk (skimmed however and with monogen due to chylothorax), has had 3 courses of antibiotics, has had at least 1 chest X-ray each day of life/3 CT scans/1 MRI, and has been on a host of medications ranging from blood thinners to pain killers and anti-seizure meds, to heart function drugs like epinephrine. Early after surgery she had 3 seizures identified via eeg, and her MRI showed minimal brain damage – reportedly on par with 22q infants.
22q is second to Down syndrome in frequency – but thought to be considerably undiagnosed, often confused with autism spectrum – and also claimed to be “random”. Neither my husband nor I have the deletion, however we both have MTHFR variants, both heterozygous – he has one c677t and I have one A1298C. I took your prenatal before and during pregnancy and am still on it while breastfeeding; also took fermented cod liver oil; optimal pc and optimal fish oil; prescript assist; d3; mag + calcium before and during.
Given her diagnosis, want to do anything we can as soon as possible to lessen the impact of the challenges of her diagnosis: learning disabilities, social issues, mental illness, etc.
I’m sorry to hear about this. I am not familiar with it but will become so. I am making a note of it now.
You supported yourself very well during pregnancy.
Makes me wonder what occurred during pregnancy. Exposures, illnesses, medications, high stressors, unknown high levels of heavy metals, underlying infections.
Do you suspect some of these?
After my first child I had 3 miscarriages, followed by 2 more children, my seventh pregnancy resulted in my sweet daughter with Down Syndrome in addition to CAVSD/TOF and prenatal stroke causing brian damage, CP and a severe growth delay. I did the genetic testing recently specifically looking for a reason on why I have such horrible skin conditions, extreme sleep problems (insomnia, sleep walking/talking) severe anxiety, two small CVA’s (strokes) at ages 31 and 33 (first one happened during my 4th child pregnancy) and some other more personal issues.
My results are confusing and im looking for a doctor in my area to help me sort them out, but I thought you may be interested in adding my results to your research on Down Syndrome.
Hi Dr Lynch,
I studied your site and worked on my health for years before getting pregnant. I cleansed any heavy metals and completely changed my diet along with that of my husbands. I am heterozygous 667 and my husband compound heterozygous. We both supplement accordingly and have a doctor very well versed in mthfr and has studied under your guidance.
I took your prenatals and followed your protocol. We got pregnant the first month of trying and in the 12th week I was told our fetus had a very severe form of T21- Downs Syndrome. The doctors were convinced from the scans that it would be T12 or T18 due to the severity. The tests confirmed T21. Needless to say we had to decide what to do as everything that could possible be wrong, physically – was wrong. We terminated the pregnancy in the 15th week after much heartache. It was too much to bare that the baby would die in utero late stage or shortly after birth because of the physical defects which were incompatible with life. The possible suffering was too much too bare.
We did everything in our power to prepare for pregnancy. And had been doing so since 2011. I still firmly agree that what we did was correct and most defects and issues are from environmental factors including diet.
But I now also believe that sometimes, its just horribly bad genetic luck.
We are going to start trying again and still believe in excellent prenatal health. I have been taking the necessarily supplements and hope next time will work out just fine.
Sorry to hear about your journey. That’s tough. I commend you for your effort and persistence.
Please do suss out more with an integrative physician to see if you’re not missing something. Dr Barry Smeltzer is quite good with prenatal concerns and may be a good fit for you.
Something is slowing your methylation despite supplementing – and need to find it.
Infections? Heavy metals? Mold? Inflammation?
First off, a trisomy diagnosis should never be referred to as ‘bad luck” as u called it. Are their sometimes severe health issues terrifying to parents? Yes. BUT that does not condone the murder of your child! I was offered an abortion and refused! My daughter has DS and was born with THREE holes in her heart and they said she would live too age 3 without open heart surgery . A knife has never touched her and the Lord healed her and she is the most amazing thing that’s happened to my family. Under no circumstances should a child be killed bc of the possibility of a “poor quality of life” as it’s often called. Who are you to determine that for a child?! Innocent and helpless. Did u also know that 60% of the DS testing is a false positive?! And that women have murdered their perfectly healthy babies?! Parents are selfish not wanted to “deal” with the speacial needs of their child and use the excuse “I don’t want them to suffer” yet u think they enjoy being ripped to shreds and pulled apart inside of what’s supposed to be the safest place in their world?! Shame on you. You will forever have your child’s blood dripping from your hands!
I absolutely never mentioned that an unborn child with DS should be killed? How did you think I mentioned that?? I even mentioned it in the beginning that if a child does have DS they can live happily and healthfully. Not sure where you are reading this?
Hi Dr. Lynch,
I’ve recently had 3 pregnancy losses- one ectopic, and 2 consecutive miscarriages. I’ve tested normally for all fertility testing (AMH, thrombophylia, antiphospholipid syndrome, all normal) except for Homozygous MTHFR C677T. My homocysteine recently was 6.4 (though this was tested after pregnancy). And, I had a karyotype done on the last miscarriage, which showed Trisomy 15.
My question is, does the methylation cycle affect all trisomies? Which specific factors can I look at to determine how well I am methylating at this point in preparation for another pregnancy? It seems clear from this article that methylation affects egg quality, and I would love to know how to measure my progress in preparing for a healthy pregnancy.
Thanks so much for this information and for your dedication to helping women like me,
I am glad you reached out.
Please watch the video and read the article here on MTHFR and Prenatal Supplementation
For labs – it is not that simple – but I would look at:
– RBC Fatty acids
– RBC glutathione
– Urinary organic acid
– Comprehensive digestive stool analysis
– http://www.DutchTest.com – hormone analysis
– Blood amino acid levels
– CBC with chem panel – TSH, free T3, free T4, and antibodies
I suspect your glutathione levels are low.
By preparing as I have outlined in my Prenatal Supplementation article, this should help a lot.
If you are exposed to environmental chemicals or live in a toxic area, then that is something to really consider and evaluate. Please read this – MTHFR’s are Toxic
Keep in mind that ‘removal’ of exposures is far more important than ‘adding’ supplements.
Both are key – but if I were to pick one – it would be cleaning up the environment first.
Well, hate to say it — but according to another study o newborn children, Down Syndrome is not the most common chromosomal disorder — Nielsen & Wohlert, et. al(https://www.ncbi.nlm.nih.gov/pubmed/2037286). I’m not sure where the 1 in 1200 figure comes from — is this live births, or does it take into account aborted fetuses with Down Syndrome? Accord to Nielsen & Wohlert:
As part of a larger prospective study of the influence of environmental factors on pregnancy, birth and the fetus, chromosome examinations have been made in 34910 newborn children in Arhus over a 13-year period. Klinefelter’s syndrome was found in 1 per 576 boys, XYY in 1 per 851 boys, triple-X in 1 per 947 girls and Turner’s syndrome in 1 per 1893 girls. Other sex chromosome aberrations were found in 1 per 11,637 children. The total incidence of sex chromosome abnormalities was 1 per 426 children or 2.34 per 1000. The most frequent autosomal abnormalities were that of Down’s syndrome with 1 per 592 children, and reciprocal translocations with 1 per 712 children. The total incidence of autosomal abnormalities was 1 per 164 children. Chromosome abnormalities were found in 276 liveborn children and in 19 fetuses, who were aborted after prenatal chromosome examination. The combined incidence of sex chromosomal and autosomal abnormalities was 1 per 118 children or 8.45 per 1000 children.”
And MTHFr A1298C homozigous and down? is there more risks?
I lost my baby with 18 weeks, and I’m afraid new pregnancy.
Flavia – one gene – MTHFR – is one out of 18,000. It is a significant one, yes – but it does not drive all the issues. My wife and I have MTHFR as well and we have three healthy beautiful boys. Please read this article on MTHFR and Pregnancy
Dr lynch, does giving a child with Ds and mitochondrial issues, high folinicacid acid, coq10 and triple b12 shots seem to be a worth treatment? My sons thyroid is doing pretty good now but his muscles are still weak. I suspect my husband and I have genes for poor muscle formation despite exercising. Any ideas on where to look.
I’d consider creatine, carnitine and PQQ. Folinic acid may help too – and B12 if needed. Low methylation will definitely contribute to poor muscle formation. The nutrients here will help – along with phosphatidylcholine as well. Glad his thyroid is doing well!
The COLV1A gene is overexpressed in Down Syndrome and is associated with poor collagen formation. Dixie lawrence, an expert in DS biochemistry discovered the addition of alpha ketoglutarate, proline, vitamin C and bioflavanoids improved the muscle tone of children with Down Syndrome. These ingredients have been added to Nutrivene, a supplement formulated for children with DS. I am a Naturopath treating people with DS via Targeted Nutritional Intervention, an approach which down regulates the over expressed genes to reduce inflammation and restore health.