Living with MTHFR gene mutations

In my Sydney clinic I see a lot people with MTHFR gene mutations who come for professional clinical help to feel better and be well.

MTHFR (methylenetetrahydrofolate reductase) is an enzyme that is part of the methyl cycle that is encoded by the MTHFR gene.

The enzyme is responsible for the catalysing conversion of 5,10-methylenetetrahydrofolate (from the folate you eat) to 5-methyltetrahydrofolate (5-MTHFR), the active form of folate). This process is called methylation and is part of the folate cycle in humans and other animals and an absolute biochemical necessity for proper cellular function.

Good methylation is responsible for gene expression, DNA and RNA synthesis and processing, regulating protein function, heavy metal modification, creation of neurotransmitters such as dopamine and norepinephrine, serotonin, and detoxification pathways, particularly homocysteine, formation of red and white blood cells and platelets.

While this may sound highly technical it is in fact part of your constant biological processes that need to happen all the time.

In up to 30-40% of people, however (although there are variances with different races), there can be mutations (polymorphism) with the MTHFR gene that cause problems with the methylation process and the conversion to 5-MTHFR.

At the moment there are a recognised total of 34 separate mutations that can occur with the MTHFR gene.

The two major recognised mutations are on the MTHFR C677T and the MTHFR A1298C genes.

When you are tested, the results can be heterozygous when you inherit a copy of the mutation from one parent. Homozygous is when you inherit a copy of the mutation from both parents.

The loss of function is greater with the MTHFR C677T gene mutation. If you inherit both mutations on both genes, the problems are even greater.

These congenital biological defects can cause an array of physical and mental problems including:

• Skin rashes or hives

• Homocysteine level constantly too high

• Hypertension

• Cardiovascular problems

• Tachycardia

• Liver dysfunction

• Kidney dysfunction

• Digestive dysfunction

• Central nervous system disorders

• Low energy levels

• Low motivation

• Chronic fatigue-like symptoms

• Fibromyalgia symptoms

• Mood disorders (depression, aggression, anxiety)

• Psychiatric disorders

• Possible failure to detoxify in autism

• Early dementia

• Birth defects

• Miscarriages

• Poor detoxification (particularly heavy metals)

Multiple diagnosis disorders that span several disorders may give signs of an MTHFR gene mutation.

Because these multiple symptoms often confuse many health professionals there is a tendency that they can dismiss them as not being real but as being a figment of the patient’s imagination.

In taking care of patients with MTHFR gene mutations it is important to establish a correct diagnosis and eliminate any other causes of the signs and symptoms. This may also need to be followed by various tests to ascertain the effects of the mutation upon the current state of health.

At the moment there is no cure for MTHFR mutations but that does not mean we cannot improve the quality of life for you because with clinical management improvements can be vast in many cases.

The improvement for many people during treatment is life changing.

The worst thing a patient can do is attempt to play home doctor. Everyone with MTHFR mutations may have different combinations of problems and you will need to be treated individually to increase your quality of life.

Do you need some help with managing an MTHFR gene mutation? Call 02 8021 6429 to book a naturopathy consultation with me at my Sydney clinic.



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