MTHFR gene mutation is actually a very common genetic defect that affects nearly 50% of people mildly and approximately 25% of the human population seriously. People who have the genetic mutation can have 1-4 alleles that they inherit from each parent. The MTHFR gene mutation test is quite important. If you have done genetic testing in the past it typically shows up, or we can run the test through a regular medical lab. The lab tells us which alleles you inherited and how many of each allele you have.
Having this genetic mutation essentially means you are unable to bring in proteins, and break them down into amino acids, and it means you are much less likely to be able to use B vitamins. MTHFR also means you lack the methyl donor required for most cellular function, including your Methylation cycle, citric acid cycles, as well as neurotransmitters and hormonal cycles. People who have the MTHFR gene mutation are much more likely to suffer from Polycystic ovarian syndrome or PCOS, typically frontal/center hair loss, metabolic syndrome, tingling fingers and toes etc.
MTHFR can cause a wide array of health conditions, ranging from blood clots and cancer to autism and migraines. It is vital that you are seen by a provider who routinely treats MTHFR gene mutations and that you are given proper treatment and care. You may have the mutation and not find out unless you undergo genetic testing or have a health issue.
MTHFR stands for methylenetetrahydrofolate reductase. It’s getting attention due to a genetic mutation that may lead to high levels of homocysteine in the blood and low levels of folate, B vitamins and other vitamins.
Its main function is to provide your body with instructions in how to create the MTHFR protein, which helps your body produce folate which is necessary in order for you to create DNA.
There’s been concern that certain health issues are associated with MTHFR mutations, so testing has become more mainstream over the years.
MTHFR gene variants
You can have either one or two mutations — or neither — on the MTHFR gene. These mutations are often called variants. A variant is a part of a gene’s DNA that’s commonly different, or varies, from person to person.
Having one variant (heterozygous) is less likely to contribute to health issues. Some experts believe that having two mutations (homozygous) may lead to more serious problems.
There are two variants, or forms, of mutations that can occur on the MTHFR gene. The specific variants are:
- C677T: About 30-40% of the American population may have a mutation at gene position C677T. Roughly 25% of people of Hispanic descent and about 20% of Caucasian descent are homozygous for this variant.
- A1298C: There’s more limited research regarding this variant. However, A1298C is found in 7 to 14 percent in North Americans, European, and Australian populations. In comparison, the variant is far less common in Hispanic and Asian populations.
It’s also possible to acquire both C677T and A1298C mutations and have one copy or two copies of each.
Gene mutations are inherited, which means you acquire them from your parents. At conception, you receive one copy of the MTHFR gene from each parent. If both have mutations, your risk of having a homozygous mutation is higher.
However, in cases where a person holds two copies of the C677T mutation or one copy of each mutation, they may be at risk of high homocysteine (an amino acid) levels, which may affect the body’s function.
Symptoms of an MTHFR mutation
Symptoms vary from person to person and from variant to variant. If you do a quick internet search, you’ll likely find many websites claiming MTHFR directly causes a number of conditions.
More than likely, unless you have problems or have testing done, you’ll never become aware of your MTHFR mutation status since sadly it is not typically checked.
Health conditions and MTHFR mutation
It’s worth noting that the health conditions linked to MTHFR depend on your type of mutation and how many copies you have.
Conditions that have been proposed to be associated with MTHFR include:
Testing for MTHFR mutations
Keep in mind that genetic testing is not likely covered by your insurance.
Other causes of high homocysteine include:
- hypothyroidism
- conditions like diabetes, high cholesterol, and high blood pressure
- obesity and inactivity
From there, the treatment will depend on the cause and doesn’t necessarily take into account MTHFR. The exception is when you’ve been diagnosed with all the following conditions at the same time:
- high homocysteine levels
- a confirmed MTHFR mutation
- vitamin deficiencies in folate, choline, or vitamins B12, B6, or riboflavin
- Tingling fingers and toes
- Typically, frontal/center hair-loss etc…
Your provider may suggest injectable supplementation to address deficiencies along with medications or treatments to address your specific health condition. You may also have additional antibodies against B vitamins, and this will be addressed in lab testing and you will most likely be given a compounded injection to introduce a methylation donor. It is very unlikely that you will be able to take B vitamins orally. You will notice that your brain actually turns on, and you will have a whole lot more energy. This condition is very treatable.
