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MTHFR 677T or A1298C Gene Mutation

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Add your family profiles of people related to ones whose DNA tested positive for MTHFR Dual Mutations. Some families seem to have many people who have the mutations and many of the symptoms in the past.

Certain families have this mutation in their DNA, it; 's an easy fix, but doctors need to know it is in your family medical history. Once an Internal Medicine Specialist tests and finds the mutation, they can check your DNA and see if you need a specific type of B-12 and folic acid supplements to prevent serious health risks.

Having two copies of the MTHFR gene mutation may raise your risk for certain health conditions, though more research is needed. You may have the mutation and not find out unless you undergo genetic testing or have a health issue.

You may have seen the abbreviation MTHFR pop up in recent health news. It refers to a relatively common genetic mutation.

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 and other vitamins.

Its main function is to provide your body with instructions in creating the MTHFR protein, which helps your body produce folate. This B vitamin is necessary 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 to 40 percent of the American population may have a mutation at gene position C677T. Roughly 25 percent of people of Hispanic descent and 10 to 15 percent of Caucasian descent are homozygous for this variant.

A1298C: There’s limited research regarding this variant. However, a 2015 Trusted Source found that A1298C is found in 7 to 14 percent of North American, 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, which is one copy 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.

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 contain.

In cases where you have only one copy of the C677T or A1298C mutation, or two copies of the A1298C mutation, there are typically no health conditions or risks linked.

Conditions that have been proposed to be associated with MTHFR include:

  • cardiovascular and thromboembolic diseases (specifically blood clots, stroke, embolism, and heart attacks)
  • depression *
  • anxiety
  • bipolar disorder *
  • schizophrenia
  • colon cancer
  • acute leukemia
  • chronic pain and fatigue
  • nerve pain
  • migraine
  • recurrent miscarriages in women of childbearing age
  • pregnancies with neural tube defects, like spina bifida and anencephaly

Note * can lead to suicide, alcoholism

[https://www.healthline.com/health/mthfr-gene#symptoms]

[https://www.cdc.gov/ncbddd/folicacid/mthfr-gene-and-folic-acid.html]

MTHFR 677T Association between variants of MTHFR genes and psychiatric disorders: A meta-analysis

Psychiatric disorders have seriously affected human life, one of the risk genes related to psychosis is the methylenetetrahydrofolatereductase (MTHFR) gene. This gene has a potential role in psychiatric disorders. Therefore, a meta-analysis is conducted to investigate the correlations between two prevalent MTHFR single nucleotide polymorphisms (SNPs), MTHFR C677T, A1298C, and severe psychological disorders (schizophrenia, major depression, bipolar disorder). [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9433753/]

Additional information Wikipedia [https://en.wikipedia.org/wiki/Methylenetetrahydrofolate_reductase]