Methylenetetrahydrofolate Reductase Gene Mutation (MTHFR) – Say that three times fast! It may be hard to say, but it’s actually a common gene mutation in humans.
An estimated 50 percent of the population has one of the 40 variants of MTHFR mutation. And, some MTHFR mutations are more serious than others.
So, are you among the 50 percent? If you are, you probably don’t know it! For instance, most people who have MTHFR mutations don’t experience significant signs, symptoms, or conditions that would lead them to get tested.
How Do Genetics Impact My Health?
Genetics determines more than the color of your hair. Also, genetics can impact your health in several ways. Mutations in genes, even if the mutation is small, underlie susceptibility to many common diseases, including:
The good news is that if you have a gene mutation, the risk of disease can depend on multiple factors that may be in our control.
MTHFR Gene Mutation and Your Health
MTHFR is an enzyme encoded by the MTHFR gene that makes folic acid usable by the body. A mutation of the MTHFR gene may be linked to serious health conditions, such as:
- Birth abnormalities
- Neurological disorders
- Certain types of cancer
- Mental health disorders
More specifically, researchers have found MTHFR gene mutations can also cause other conditions like:
- Ataxia, a neurological disorder that affects coordination
- Homocysteinemia, abnormally high levels of homocysteine in the blood or urine
- Glaucoma, a group of eye conditions that damage the optic nerve
- Peripheral neuropathy, a neurological condition that affects the nerves
- Scoliosis, the abnormal curvature of the spine
- Microcephaly, a condition in which the head is smaller than usual
- Cardiovascular diseases, such as blood clots, strokes, and heart attacks
- Anemia, a lack of healthy red blood cells
There are three main categories of symptoms or health problems you might encounter with an MTHFR mutation.
Elevated homocysteine levels can cause:
- Stroke and heart attack
- Frequent miscarriages
- Congenital birth abnormalities
Neurologic conditions that may be caused by an MTHFR mutation include:
- Depression and alcoholism
- Aggression and autism
- Bipolar disorder and obsessive-compulsive disorder
- Alzheimer’s disease and dementia
- Chronic fatigue syndrome
3. Systemic Intoxication
The build-up of toxic metabolites in the body causes damage to the liver, skin, kidneys, colon, and lungs. This build-up may cause conditions including:
- Nausea, diarrhea, and colon cancer
- Hair loss and rashes
- Rapid heart rate, high blood pressure, and pulmonary fibrosis
- Immune dysfunction
- Kidney and liver dysfunction
Why Do These Symptoms Occur?
The MTHFR enzyme is the controlling enzyme in the production of methyl groups. If an MTHFR gene mutation exists, there will be decreased production of methyl groups resulting in impaired methylation.
Nearly every reaction and function of your involves the process of methylation. Here is a shortlist of the systems and functions that are affected by the methylation process:
- Turning genes on and off
- Detoxifying the body of toxins like chemicals and heavy metals
- Nerve function
- Development of cells in the immune system
- Metabolism and cellular energy production
- Processing and detoxifying hormones
- Building the neurotransmitters that affect mood
- DNA and RNA synthesis
How Do I Know if I Carry a Variant of the MTHFR Gene?
The only way to find out if you have a gene mutation is through genetic testing. There are two different kinds of MTHFR genetic testing.
1. Genetic SNP Testing
To make new cells, an existing cell divides in two, but first, it copies its DNA so the new cell will have its own complete set of genetic instructions.
Mistakes made during this copying process are called SNP errors (single nucleotide polymorphisms). Genetic SNP testing looks for copying errors on your DNA to determine whether you have a gene mutation.
2. Organic Acid Test
This simple urine test looks at biomarkers from various metabolic pathways and analyzes any nutritional deficiencies that might exist.
When specific organic acids are found in organic acid testing, it may signal a metabolic insufficiency, which could be related to:
- A nutritional deficiency
- A hereditary enzyme deficit
For example, organic acid testing information can lead to significant improvements in numerous other health conditions, including:
- Sleep problems and fatigue
- Mood swings, weight gain, and nausea
- Joint pain, acid reflux, and autoimmune disorders
- Depression, inflammation, and headaches
- Acne/eczema and cancer
Different Variants Have Different Impacts on Health
And, when you get tested, the MTHFR gene will either have zero, one, or two mutations. For instance, the mutations are called variants.
- If you have one variant — heterozygous — you are less likely to experience health issues.
- If you have two mutations — homozygous — you may have more serious problems.
Gene mutations are inherited from your parents and passed on to your children. At conception, each parent contributes one copy of the MTHFR gene to the baby. Lastly, if both parents have mutations, the risk of the child having a homozygous mutation is higher.
To clarify, managing MTHFR is as complex as every individual is unique. And, the number and type of MTHFR mutations significantly affect the approach to and outcome of care.
In short, genetics cannot be changed, but how genes behave can. And, a comprehensive approach that combines diet and lifestyle changes to support proper and efficient methylation can effectively treat MTHFR. However, there is no one-size-fits-all approach.
Most importantly, that’s why you must work with a functional medicine provider who can help you get to the root of the problem. And then, create a well-rounded treatment plan that has been customized to meet your needs.
Are You Concerned About Gene Mutations?
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