What Is a Genetic Methylation Test?
Published: January 2024
What if you could look into your genes and determine whether you were at risk for problems with cognition, inflammation, cardiovascular health and mood? This information could be a game changer: you might even be able to make proactive lifestyle changes to avoid worst-case scenarios.
Fortunately, you have the ability to crack the code on your DNA and identify these potential health risks with a readily available lab test that looks into a range of your genes that control multiple areas, and that includes a methylation panel.
So, what is methylation, and what exactly does a methylation test reveal? We interviewed expert Dylan Blaiwes, who manages lab testing at Life Extension, to learn more.
What is methylation?
Methylation may not be a word you hear often, but it's kind of a big deal. It plays a critical role in many bodily systems and ultimately impacts how you are "wired," Blaiwes pointed out.
"Methylation is a biochemical process that helps regulate everything from your metabolism and brain chemistry to your immune function, to how well you absorb folate," he explained. He noted that it is also involved in inflammation, detoxification, and in DNA synthesis and gene expression.
Now, to be clear: methylation is a normal and important part of our metabolism. But a problem can occur when a specific methylation process doesn't work as it is supposed to, which can result in a wide array of health concerns—even diseases.
Some methylation-related issues could result in elevated homocysteine, cognitive decline, mood-related concerns, cardiovascular disease and more.
How Does Methylation Work?
To get really technical, here's a brief view of the biochemical process of methylation:
- Methyl is a simple molecule of one carbon and three hydrogens; it's also called a methyl group.
- Methylation is a biochemical reaction that happens when specialized enzymes attach a methyl group to another molecule.
- These molecules can include everything from neurotransmitters to lipids and proteins. Methyl groups can also attach to nutrients like B vitamins—as well as our DNA.
- In the case of DNA methylation, when genes are methylated, they are usually silenced or "turned off," which slows the production of different proteins which can result in a whole host of health effects (see DNA Methylation sidebar below).
How do you know if you have methylation issues?
When methylation is balanced, everything is "business as usual." On the other hand, when there are methylation issues—meaning you carry a variation on a gene that controls certain aspects of methylation, and as a result, some methylation pathways in your body don't function right—it can lead to a variety of symptoms. But the only way to know if your mood disorder or elevated homocysteine levels are due to genetic methylation issues is with a genetic test that identifies any variations in genes that control methylation pathways (and by pathways, we mean the biochemical reactions that occur during the methylation cycle).
What is a methylation test?
A genetic methylation test is a lab test that looks at certain methylation pathway genes. When variations in specific genes involved with the methylation pathway are present, the methylation pathway won't work like it should.
"A methylation panel can identify variations (also called SNPs) in some genes associated with specific methylation pathways, and this can help reveal risks for developing a methylation-related concern," Blaiwes explained. Two of the most important genes related to methylation to check are MTHFR and COMT; assessing variants of these two gives a picture of the body's methylation potential in these two pathways. MTHFR is important for ensuring proper B vitamin and amino acid metabolism, while COMT is essential to neurotransmitter and hormone metabolism. As Blaiwes explained, these target genes are analyzed for variations in the DNA sequence that may impair their normal function.
So, that's a lot of information from just one lab panel. And don't worry if you're not a fan of needles or blood tests: the best part is this lab test only requires a cheek swab (no blood test)!
Are there other ways to check on methylation?
Yes! MTHFR and COMT aren't the only way to keep tabs on methylation. You can also choose a more in-depth analysis to identify advanced methylation concerns and optimize your health by examining other related genes, including MTRR, MTHFS and MTHFD, along with various other methylation and health-impacting genes to optimize wellness.
Plus, genetic testing isn't the only option, either: "If a genetic test is unavailable, you can still check for potential methylation issues with a simple homocysteine blood test, due to homocysteine's involvement in a key methylation-dependent process," Blaiwes said. When MTHFR isn't functioning properly, homocysteine can build up.
Why should I get a methylation panel?
Assessing methylation gene function, like MTHFR, is a great idea for anyone concerned about healthy aging. Variations in genes may mean a variety of health concerns, as studies have shown:
- Increased homocysteine levels, a biomarker for inflammation, which can result in cognitive decline, heart disease and more
- Inability to turn vitamin B9 (folate) into its active form (methylfolate), meaning your body won't be able to benefit from this important vitamin
- Cognitive and mood disorders
- Methylation is important for balanced hormone metabolism and detoxification from harmful substances
If results show an MTHFR variation, you can adjust lifestyle habits, like increasing your intake of folate-rich foods (liver, broccoli, brussels sprouts, cabbage, leafy greens, nuts and more) to support optimal brain and heart health.
What causes methylation problems?
Just like your curly or straight hair is inherited, SNPs (variant segments) on genes that control methylation patterns are also inherited. "The genetic variations that affect methylation-related enzyme synthesis are also inherited," Blaiwes explained.
But as you've seen so far, how you eat and other lifestyle factors play a significant role in your methylation pathways and can trigger issues, he added. "Impairments in the methylation process may occur due to B vitamin deficiency and variations in methylation enzyme genes," Blaiwes added.
What Is DNA Methylation?
DNA methylation is an important part of your epigenetics, and it's different from what's examined on a genetic methylation test. "Think of the methyl groups as on/off switches that express (turn on) or silence (turn off) your genes, directly impacting your well-being; this is also known as gene regulation," said Blaiwes. In other words, DNA methylation refers to how and where your genes are "turned on" and "off," regulating overall gene expression. When switches that were supposed to be turned off are turned on, and vice versa, you might feel like your wires are crossed.
A DNA methylation test can help us look at how gene methylation impacts the way our genes express themselves—going back to the analogy of what genes are "switched on and off," we want to see whether there are variations in the patterns of how the "levers" are attached to genes. This type of methylation testing can show us how our age, environment (like oxidative stressors), diet and lifestyle choices influence the human genome. "We can measure how methylated different genes are and then infer how much impact the gene silencing may have on various areas of health. Novel algorithms have also been developed to infer biological age from the pattern of methylation of various age-related genes," explained Blaiwes.
And what about epigenetics? Epigenetics refers to how behavior and environment impact the way our genes work. This process can result in changes that can have a major influence on our health. Epigenetic changes (like your genes) are also inheritable, which means that non-lifestyle and lifestyle factors (including our parents' and grandparents' lifestyles) can cause DNA methylation and other epigenetic changes, impacting how and whether our genes are expressed. The effect this has on our health (whether positive or negative) depends in part on what genes our daily habits "turn on or off."
The good news is that not all epigenetic changes are permanent, and we have some influence over our genes. "Epigenetics can also be modified through favorable dietary and lifestyle changes. Many genes can be de- or re-methylated in response to a shift in the body's demands for the proteins and enzymes associated with specific genes," added Blaiwes.
Can methylation problems be reversed?
In the broad sense of genetic methylation, yes, it can be reversed. You can overcome a dysfunctional variation in the methylation-related gene MTHFR through the dietary intake of preformed methyl folate (aka active folate your body can use) or minimizing excessive methionine intake, Blaiwes pointed out.
"However, it is important to identify which methylation-related genes may be affected, as MTHFR is only one part of a much larger orchestra of enzymatic processes, so methyl folate isn't always what's needed to overcome a more complex methylation concern," he added.
The bottom line: The little things we do daily significantly impact the expression and effect of many methylation-related genes and, by extension, impact our health and well-being.
References
- Menezo Y, et al. "Methylation: An Ineluctable Biochemical and Physiological Process Essential to the Transmission of Life." Int J Mol Sci. December 2020. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7730869/
- "What Is Epigenetics?" Centers for Disease Control and Prevention. August 2022. https://www.cdc.gov/genomics/disease/epigenetics.htm
