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MTHFR and Related Genomics
What is a gene SNP?
See that DNA in the picture above? The "rungs" on that ladder are each made of two molecules called "bases". There are four possible base molecules that make up all DNA. The pairing of these molecules at each rung is what creates the genetic "code" or blueprint for our body. Think of it like computer code written in base-4. A gene is a segment of the ladder above containing a bunch of rungs (base pairs). Each gene is a different length, and the base pair sequences in that section form the code to build something specific (like an enzyme, or a protein). To build the best version of an enzyme, it requires a precise code. The perfect code (found in the majority of people) is called the "wild type". Sometimes one of the bases gets swapped out for one of the other bases. This subtle change of code will create a subtly different enzyme or protein (often meaning it works a little faster or slower than usual).
When one of these base pairs is different from the "wild type", we call that a gene SNP (single nucleotide polymorphism). These SNPs are inherited and have the potential to influence health. Potential being the key word there. These single, subtle changes do not necessarily have a negative impact on health, and if they do, it is a small change in the speed of function of an enzyme - within the range of normal functioning.
Thousands of genes have been mapped at this point, and we are learning what the implications of various SNPs are.
Help! I got my genome mapped and I have SNPs! Am I doomed?
Everyone has SNPs, lots of them.
Having looked at hundreds of genome maps, one thing I have noticed is that SNPs tend to balance each other out if you scroll back and look at the big picture.
First you should know that there are many copies of every gene, each with the potential to have a SNP or be perfect (aka "wild"). At any given time your body turns on and off different genes. So one day you might have the gene with the unfavorable SNP turned on, the next you might have one of the "wild type" genes turned on. So even if you have a SNP it does not mean it is active.
Second, having a SNP that makes a slower enzyme does not mean that the enzyme system doesn't work, it just means it might need some extra support from time to time. The best way to determine this is by assessing how you feel and looking at patterns in your health. Letting symptoms guide you is FAR more important than what SNPs are present. Treating the SNPs without paying attention to how you feel has the potential to cause more problems than it solves.
Third, supporting slower enzyme systems is as simple as taking targeted nutrients until your symptoms resolve (note that I did NOT say "for the rest of your life").
SNPs vs. Genetic Disease
Having SNPs is NOT the same thing as having a genetic disease. Genetic diseases are caused by major changes or deletions of whole genes or even parts of whole chromosomes. Genetic diseases are present for the entire life span (Dwarfism, Down Syndrome). Some diseases have a genetic component and also require an environmental trigger (Diabetes, Parkinsons, Alzheimers). As I stated above, SNPs are tiny, single base changes that result in changes in enzyme or protein function within the range of normal function. So, even though they are inherited, SNPs are not the same thing as having a genetic disease.
What is MTHFr?
MTHFr is the gene that activates folate by adding a "methyl" group onto it.
If it helps you picture it, a "methyl" group is a carbon atom with three hydrogens. It looks like a Mickey Mouse head.
Activating folate is the first step in moving that methyl group to many other molecules (like B12, SAMe, and others). This whole process is called the "methylation cycle".
Genes related to the methylation cycle (MTHFr is the best known) affect many, many processes in the body. I think of the methylation cycle as one of the biochemical "hubs" in the body because it impacts so much. Three of the main systems affected by methylation are:
1) Making new cells - particularly affecting cells that should be reproducing quickly
Developing babies (leading to miscarriage)
Blood building inside the bone marrow (affecting both red and white blood cells, oxygen carrying and immune function)
Intestinal lining (making GI system more sensitive and slower to heal)
2) Producing (and breaking down) serotonin, dopamine, norepinepherine, epinepherine
Impacts mood, and often related to anxiety, depression, poor focus, insomnia
May also impact urges & addictions
3) Detoxification of histamine, chemicals, hormones and heavy metals, as well as reducing homocystine
Slows elimination of heavy metals and other toxic chemicals that we are exposed to daily
Can cause imbalances in immune function, hormones and nervous system
Slows breakdown of hormones
Involved in hormone imbalances
Increased risk of cardiovascular disease, diabetes, autoimmune and other chronic illness
That little methyl group does a lot.
Other symptoms / conditions that are commonly associated with these genes are:
Autism / Asperger / Sensory Integration
ADD / ADHD
Higher risk for heart disease
Family history of mood issues, mental illness, addiction, "self medicating" behavior
and many more
People with slow MTHFr genes are often fatigued, depressed and/or anxious and have been feeling progressively worse over many years. They often have "weird" responses to medications or treatments that seemed like they should work. For many people, addressing slow MTHFr (or other related challenges) can be a "game changer" in their healing journey.
What about all those other SNPs?
They are all important!
There are more of them than the human brain can map - so we are beginning to use computer algorithms to assess the potential impact of all the combined SNPs in an individual. In my practice I tend to focus on SNPs related to mood, brain function, immune function, detoxification, and energy.
How can Dr. Becky help?
I have been working with MTHFr-related issues since 2009 and do my best to stay current with this rapidly evolving body of information. I review and explain (to the best of my ability) these genetic reports, and combined with your symptom picture can make specific suggestions for diet and supplementation to support the re-balancing of your body. I recommend starting with getting your genome mapped by 23andMe, and most often recommend the interpretation panel called Sterling's App.
Click here information about the Genomic Assessment Package with Dr. Becky.