Raj K. Syal, M.D., F.A.C.O.G.    |    Jenna A. Everson, M.D., F.A.C.O.G.    |    Holly Westmoreland, M.D., F.A.C.O.G.    |    Kellyn Rielly D.O.   

You May Have a Common Gene Mutation.

In 2003, the Human Genome Project was completed, and it was discovered that a large part of the population has a common genetic mutation in a gene called Methylenetetrahydrofolate Reductase (MTHFR). Current estimates are that about 30 percent of the population may be affected. Depending on the mutations involved, symptoms may include:

  • Migraine headaches
  • Chronic or general fatigue
  • Fibromyalgia
  • Chronic pain
  • Neuropathies ADD
  • Anxiety
  • Depression
  • Auto immune disorders-Lupus
  • Rheumatoid arthritis
  • Hashimoto’s thyroiditis
  • Dementia
  • Alzheimer’s Chronic immune dysfunction (chronic yeast, bacteria, or viral infections)
  • Allergies
  • Infertility
  • Recurrent pregnancy loss
  • Hormone regulation issues
  • Sleep disorders
  • Low libido
  • Psoriasis
  • Cancer

Methylation describes a biochemical process that is responsible for the transportation of nutrients and energy production in the body. More than 200 pathways have been identified in humans that depend on the process of methylation. Methylation takes water soluble vitamins such as folic acid and the B vitamins, and turns them into fat soluble vitamins so that they can be used by the cells in the body. Every cell in the body requires this process. A decrease in methylation can result in:

  • Fatigue
  • Muscle weakness
  • Poor circulation
  • Poor cell growth and repair
  • Poor neurotransmitter activity causing anxiety, depression, insomnia, headaches, memory and concentration problems
  • Poor growth (common in children)
  • Weak immune system causing allergies, recurrent infections, and cancer

Currently, at least five mutations have been identified that can affect the methylation pathways. The mutation and or combination of mutations one has will determine the reduction in methylation and severity of symptoms.

Not all patients with a mutation will have symptoms. The body is designed to have a very significant over-capacity of this vital pathway; however, a triggering event can cause symptoms to develop in the previously healthy, as demand for methylation increases to protect and heal the body. Triggering events can be caused by stress (physical or emotional), surgery, illness, child birth, hormone changes (puberty, menopause or andropause), exposure to toxins, poor diet, etc.

How do I get tested for this deficiency?

Confirming the MTHFR mutation involves testing you for the gene mutation in addition to other blood tests that can give an indication of the severity of deficiency in methylation.

Treatment

Methylation is the foundation of treatment. We cannot change one’s genetics, but we can improve the function of the defective gene by giving nutrients that bypass the defective gene. In addition to methylation, elimination of inflammation, stress, toxins, and improved nutrition is necessary to improve health.

If you have any of the symptoms listed above and are frustrated with the lack of a diagnosis or successful treatments, testing for the MTHFR mutation may reveal a diagnosis so that we may treat you properly, thus improving your overall health and well-being.

Raj K. Syal, M.D., F.A.C.O.G.