DNA Strand


One in Three People Have This Gene Defect that Can Affect their Health. Are You One of Them?

Written by Christine Bishara MD

Each individual has a distinct genetic blueprint that determines their unique identity. These blueprints are called genes, and they are essentially the set of instructions that create who you are. DNA is the structure that houses these genes. This means that every cell in your body and every detail is uniquely encoded into your DNA to form your unique blueprint. How amazing is that?

As unique and remarkable as this genetic code may be, it can contain certain flaws called mutations that affect important cell functions in the body.

What is Methylation?

Methylation is a multi-step chemical process that helps to stabilize DNA. It’s a key biochemical pathway that is activated more than a million times a day.

What is MTHFR and What Happens If It Has Mutations?

MTHFR is a gene that is involved in the process of methylation. It is necessary for making, maintaining, and repairing DNA, while also assisting in the detoxification process. In a perfect world, this process would run smoothly 100% of the time, but for many of us, there are certain flaws that lead to a mutation in this gene.

What role does the Methylation Process play in the body? Methylation has numerous tasks, including:

1. Detoxification: Processing and filtering environmental toxins in the body

2. Homocysteine management (Management of Vascular Diseases)

3. Absorbing nutrients

4. Nervous system function

5. Energy production and creation of building blocks and vitamins

6. Regulating gene expression and immune function

7. Dopamine production (important neurotransmitter)

The MTHFR gene mutation is a common example of a genetic flaw. Recent research has brought to light the significance of the MTHFR gene mutation and the need for MTHFR support. The mutation has been linked to dozens of health conditions, including:

● Cardiovascular disease

● Infertility

● Mental health problems

● Alzheimer’s, depression


● Birth defects

● Hormonal production and regulation.

What’s even more surprising is that it’s estimated that 30-40% of individuals have a defect in their MTHFR gene which affects the DNA methylation process. This affects the body’s ability to process nutrients and vitamins, as well as creating other issues related to the above processes. There are different severities of this variant.

Now, if the MTHFR gene has this defect it can cause many issues including: Neurologic abnormalities (Autism and ADHD), Immune system dysfunction, Neuropsychiatric imbalances (Depression and Anxiety), Hormone regulation problems, Increased risk of stroke and heart disease, and decreased Glutathione Production (a potent antioxidant).

Any interruption in the process is like a backup in the assembly line at a factory. One malfunction affects the whole assembly line, but in this case, it’s in the DNA.

For the DNA and molecules to function, there must be coenzymes such as folic acid, vitamin B12, and vitamin B6. These are essential to ensure the process functions at optimal levels.

Physical Symptoms

Some of the most common physical signs and symptoms of an MTHFR gene mutation include:

● Cardiovascular Conditions: High blood pressure, stroke, heart attack, and deep vein thrombosis

● Multiple Miscarriages and trouble getting pregnant.

● Estrogen Dominance: Higher levels of estrogen levels relative to progesterone levels in the body

● Developmental delays: ADHD, learning disabilities, autism

● Seizures: Sudden, uncontrolled body movements and changes in behavior

● Poor coordination: Lack of coordination, balance, or motor control

● Migraines

● Depression

● Chronic fatigue Fatigue that lasts for over six months without any identifiable risk factors

If This Defect is so Common, Should I Get Tested?

To find out if you have an MTHFR gene defect, genetic testing through a simple saliva or blood test can be done. It might be worth testing if you have:


● Autism

● Persistent Depression or Anxiety

● Histamine intolerance

● An Autoimmune Condition

● History of Cancers

● Hormonal Issues

● Chronic Fatigue

● History of heart disease, or stroke especially if at a young age


1. A methylated form of Vitamin B12

2. Eating an Antioxidant rich diet to decrease the free radical load that can affect the methylation “assembly line.”

3. Minimizing Alcohol intake

4. Practicing Intermittent Fasting which helps to decrease the metabolic load on the body

5. Healing any underlying Gut issues that may affect the detoxification pathways

6. Eating a probiotic-rich diet that helps increase a postbiotic called Butyrate. Butyrate has many beneficial functions including maintaining a healthy gut lining.


While having the MTHFR defect is not necessarily a death sentence, it is important to be aware of it so you can take precautions. It’s critical to take a step back to look at the bigger picture when it comes to your well-being. Research consistently shows the importance of health basics. Diet, lifestyle, and gut health are key components to consider when aiming for better overall health and mitigating the symptoms usually linked to MTHFR mutations. Making lifestyle modifications, such as getting enough rest and following an anti-inflammatory diet can result in remarkable health advantages, regardless of your genetic makeup. Treatments that zero in on the gut may help to ameliorate several of the imbalances and symptoms connected with MTHFR gene variations.

For more help identifying the true nature of your symptoms, reach out to schedule a virtual consultation at fromwithinmedical.com . You can request a consultation here to get personal medical guidance from me, Dr. Christine Bishara.