Everybody has an mthfr gene, this gene controls your ability to use your folate properly but its even more important to understand that a mthfr gene mutation, that is to say some genetic mthfr polymorphisms means that you can have a loss of function.
Do you have a mthfr gene mutation? Chances are yes, you do, this is because most people have at least 1 mutation identification that can lead to severe methylenetetrahydrofolate reductase deficiency.
Methylenetetrahydrofolate reductase deficiency (MTHFR) means having a loss of function that leads to a folate deficiency such as an inability to convert enough folate or folic acid leading to low folate status. The mthfr gene is how the body processes folate. This is a big problem due to the fact that folate works with all of your other b complex vitamins and also provides stability to your homocysteine levels which is a very important marker for how your overall health is right now and can determine your risk factor or increased risk of certain diseases such as cardiovascular disease, vascular disease, coronary artery disease, risk factors for heart disease, myocardial infarction including neural tube defects, birth defects, blood clots, miscarriages and even Alzheimer’s disease.
The mthfr gene or methylenetetrahydrofolate reductase gene or set of genes when gene mutation are active can carry severe mthfr deficiency when mthfr gene variants become active which can happen at any time of your life.
MTHFR gene polymorphisms can cause reduced ability to maintain plasma homocysteine concentrations which can lead to homocysteine imbalances or homocysteine metabolism which carries an increased risk of mortality.
What causes a MTHFR mutations?
The MTHFR gene is inherited, it is a genetic polymorphism, so you could blame mum and or dad but they could then blame their parents and so on and so forth, but you are born with your gene mutations. Sometimes your gene mutations are an active problem right from the beginning of your life and other times genetic and environmental factors cause the gene to become problematic. Stress, viruses, toxicity, vaccines and many other factors can cause your mutations to become active problems.
MTHFR gene mutation and folic acid
MTHFR mutations block your ability to use your folate and or your folic acid efficiently, there is also evidence that folic acid can also interfere with your ability to make methylenetetrahydrofolate reductase by acting as an inhibitor noting that folic acid is an inhibitor with increased risk factor for folate deficiency. Folic acid is not natural, it is man made where as folate is the natural form that come in the food supply.
When you have a mthfr mutation or mthfr variants that are active you will usually see elevated folate and or elevated vitamin b12 on your blood test, this is a sign that you are not able to use your vitamin b so they begin to accumulate and cause problems with vitamin utilization and or further reduces how you process folate. Its a nutritional traffic jam that slows down your ability to produce 5,10 methylenetetrahydrofolate reductase which is the enzyme needed to convert you folate in activated folate of 5-MTHF.
How MTHFR mutations affect neural tube defects
Neural tube defects are essentially damage produced due to a lack of activated folate that causes a nutritional break with significantly increased risk for problems with methylation.
Homocysteine levels can be significantly affected by a break in your mthfr gene mutation. Homocysteine levels need to remain balanced in order to produce a human being, this is why methylenetetrahydrofolate reductase is so important as it helps the methylation cycle keep up with supporting both you and your pregnancy. When the homocysteine levels become compromised due to MTHFR mutations there is simply not enough active folate to support a healthy pregnancy.
Preventing neural tube defects
Increasing the enzyme called methylenetetrahydrofolate reductase or MTHFR for short, is very much a key factor in preventing neural tube defects. Genetic mutation of the 5,10 methylenetetrahydrofolate reductase & human methylenetetrahydrofolate reductase is vital in reducing risks of pregnancy complications that lead to neural tube defects.
Neural tube defects are highly associated with a loss of activated folate due to mthfr polymorphisms or mthfr mutation. This means a nutritional break has occurred reducing dna methylation which can trigger neural tube defect or birth defects.
Getting mthfr polymorphism testing to test for mthfr genetic mutations or mthfr variant defects can help to discover your genetic variant and mthfr genotype, knowing the severity of these mutations can help to establish ways for you to overcome your nutritional break and so to properly feed a pregnancy.
Elevated levels of vitamin B 12 are also often a sign that you make less methylenetetrahydrofolate reductase because B 12 works with folate. So preventing neural tube defects can be a matter of getting all of your methylation genes working better together via your homocysteine and knowing what you risk factors are up front or before getting pregnant.
MTHFR gene variant types
There are a number of genetic mutations in the 5,10 methylenetetrahydrofolate reductase
and known mthfr mutations that are part of the methylenetetrahydrofolate reductase
family of genes.
Common MTHFR variants
The most common medical genetics with mthfr associated disorders that often show elevated levels of vitamin B 12 are:
MTHFR gene C677T
MTHFR gene A1298C
The less known MTHFR gene mutations
MTHFR gene 03 P39P
MTHFR gene A1572G
MTHFR gene A4117C
MTHFR gene A4598G
MTHFR gene C-137T
MTHFR gene C10318T
MTHFR gene C24909T
MTHFR gene C841T
MTHFR gene G1793A
MTHFR gene G18861A
All of the above methylenetetrahydrofolate reductase gene examples are problematic for many health problems in everyday life for millions of people. Most people carry risk factor for common health problems like:
Imbalanced homocysteine levels (homocysteine metabolism)
methylenetetrahydrofolate reductase mthfr deficiency of up to around 70% loss of dna methylation and increased risk of cardiovascular disease, cardiovascular risks, blood clots and or vascular disease.
Conditions of common mutation in the methylenetetrahydrofolate reductase gene is very wide ranging such as….
Common health conditions that result from MTHFR
- Alcohol withdrawal seizure (muscle tension after alcohol withdrawal)
- Autism
- Increased risk of blood clots
- Cardiovascular disease or Coronary artery disease: thromboembolism, heart disease, atherosclerosis, and myocardial infarction
- Colorectal neoplasias
- Common MTHFR anxiety disorder
- Dementia, alzheimer’s disease and memory loss
- Depression Anxiety and or Irritability
- Developmental delays
- Elevated or low homocysteine levels
- Hypertension
- High homocysteine levels or low homocysteine levels
- Increased breast cancer risk (women >55 years of age)
- Infertility & miscarriage
- Methylenetetrahydrofolate reductase deficiency
- Neural tube defects and other birth defects
- Peripheral neuropathy
- Reduced lean body mass and increased body fat
- Schizophrenia
- Stroke
- And hundreds more health issues (Click here to learn more about MTHFR symptoms)
Reducing your health problems and disease risk
As discussed earlier, most people have mthfr gene variants, this is a much bigger problem is society world wide than many would like you to believe. Genetic mutation is very common, known mthfr mutations are the most looked for while many other get missed so its important that you test for MTHFR mutations properly.
If you have symptoms of MTHFR its best to consult with professionals that understand a wide range of genetic mutations because it is complex and you will need to do it the right way the first time to avoid disappointing outcomes. See the following link to consult with genetic specialists today.
