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One of the questions we've been trained to ask about anything related to our health is whether it's genetic. Unfortunately, this is not really a great question, because it has so many different possible meanings.
Down Syndrome is a genetic condition, but does that make it genetic in nature? Let's explore what we currently know about Down Syndrome, what causes it, and what can be done about it.
Understanding What Genetic Means
When someone asks whether something is genetic, what they commonly mean to ask is whether it is hereditary, which is something wholly different. Hereditary means that the condition passes on from one generation to another. Sometimes, hereditary conditions may skip a generation, or even several. This is because the condition may be a recessive trait, and must be met with the right conditions from both parents in order for the condition to manifest itself.
As far as we know, Down Syndrome is not something hereditary in most cases. However, if one parent has Down Syndrome, especially if it's the mother, there is an increased chance of a baby having Down Syndrome. Besides that, there is no known genetic trait where Down Syndrome is passed from one person to another.
However, there's another definition of genetic that Down Syndrome does meet. This definition is that the condition is something contained in the genetic makeup of the person, and cannot be changed. When you apply this definition to something like heart defects, it's often called congenital. A genetic condition, specifically, means it changes how the genetics express in the person. For people with Down Syndrome, the way the genes express is different because of the extra copy of the chromosome. This change in expression is something that follows the person for their entire life, if left untreated, and will continue to raise new symptoms.
What We Know About the Cause of Down Syndrome
So, what do we know about what causes Down Syndrome right now? First, know that if you have a child with Down Syndrome, you did not cause it. There may be things in your own genetic makeup that may have contributed, which we'll discuss momentarily, but you likely would not have known this.
Several genetic conditions have been tied to folate deficiency, with Down Syndrome being one of them. When a human egg is fertilized, it starts a process of division, called cell meiosis. There are four stages of this process, the first happens before fertilization even begins. The human egg has 46 chromosomes, two copies of each of the 23 unique chromosomes. As the egg leaves the ovary, it splits one, creating two distinct eggs, each with 23 chromosomes. This division happens a second time, making for four possible eggs available for fertilization.
In order for the egg to split properly, the egg needs methyltetrahydrofolate, or the active form of folate. If there isn't enough active folate, then when the cell divides, the cell half may not “grab” onto each chromosome correctly, potentially leaving two copies of the chromosome in one half. There are several forms of Trisomy, not only Trisomy 21, but the cause is the same. This is part of why prenatal vitamins all have substantial amounts of folate in them, to prevent issues with cellular division.
While there's no specific hereditary condition that leads to Down Syndrome specifically, there is one that increases the risk of not having enough active folate at the moment of cell division, known as an MTHFR gene mutation. This mutation inhibits the cycle whereby the body converts dietary folate into the active form the body can actually use. This means that even if you're taking a folate supplement, your body may not be using it on the cellular level because of this genetic change. For more detailed information on this, have a look at the information from Trisomy21Research.org.
How to Prevent Down Syndrome
As mentioned previously, there is no guaranteed way to prevent Down Syndrome. However, given what we know about the importance of folate to cellular division, there are some things we can do to help minimize the risk. First, we can make sure that women of childbearing age are getting plenty of folate, including through supplementation. In fact, there is some strong correlation between depression and anxiety and having enough folate, so this goes beyond just the mitigation of Down Syndrome.
Second, we can become more aware of the various genetic changes that may affect people's ability to effectively use folate. There is a building body of evidence of how lithium deficiency affects people. Lithium helps transport folate around the body, including into brain cells. Supplementing with an appropriate amount of lithium rotate may help provide more folate in the egg cells when it's time for them to divide, allowing them to divide without errors.
If you suspect you have an MTHFR gene mutation, consider adding a small dose of lithium orotate to your daily supplementation regimen. We prefer the Swanson Brand lithium orotate. For folate, we prefer a full B-Complex vitamin to ensure our bodies are getting the full spectrum of B vitamins it needs to function properly.
**These statements have not been evaluated by the Food and Drug Administration. This information is provided for educational and entertainment purposes only and is not intended to diagnose, treat, cure, or prevent any disease.