MTHFR Genetic Variants

Methylenetetrahydrofolate reductase (MTHFR) is an enzyme that breaks down the amino acid homocysteine. The MTHFR gene that codes for this enzyme can mutate, which can interfere with the enzyme’s ability to function normally or completely inactivate it.

There are two common types, or variants, of MTHFR mutations: C677T and A1298C.

MTHFR Variants, Symptoms, and Treatment

These gene mutations are relatively common. In fact, in the United States, around 25% of people of Hispanic descent and 10–15% of people of Caucasian descent have two copies of C677T.

The mutations can lead to high levels of homocysteine in the blood, which may contribute to several health conditions, including:

Mutations in the MTHFR gene can affect the body’s ability to process amino acids like homocysteine, which can lead to some adverse health outcomes.

Conditions associated with MTHFR gene mutations include:

  • homocysteinemia, which is the term for abnormally high levels of homocysteine in the blood or urine

  • ataxia, which is a neurological condition that affects coordination

  • peripheral neuropathy, which is a neurological condition that damages the nerves

  • microcephaly, which is a condition present at birth in which the head is smaller than usual

  • scoliosis, which refers to an abnormal curvature of the spine

  • anemia, which means that there is a lack of healthy red blood cells in the body

  • cardiovascular diseases, such as blood clotsstroke, and heart attack

  • mental health conditions, such as depression

  • behavior disorders, such as attention deficit hyperactivity disorder

Symptoms of a folate or vitamin B12 deficiency, which may include:

  • fatigue

  • shortness of breath

  • constipation

  • a loss of appetite or unintentional weight loss

  • muscle weakness

  • numbness, tingling, or pain in the hands or feet

  • dizziness or a loss of balance

  • mouth sores

  • mood changes

Also associated may be symptoms of anemia, which may include:

  • fatigue

  • weakness

  • shortness of breath

  • dizziness

  • headaches

  • an irregular heartbeat

MTHFR genetic variants are identified by a blood test and the variants that you have will determine the approach to treating you. These variants are hereditary. Each person has two copies of the MTHFR gene: one from their mother and one from their father. If a parent has a known variant it important to identify the variant of their offspring. 

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