Personalized Medicine Takes on the MTHFR Gene

Have you ever noticed how certain characteristics “run in the family”? Maybe it’s depression. For example, a family’s grandmother, mother and son all showing similar symptoms of a mood disorder. How about sleep problems? Father, father’s mother, father’s brother and father’s children. Alcoholism, ADHD, early age heart disease and stroke?

Once you start thinking it through, it makes sense that there must be some genetic link involved in these cases. And you’d be right — there most certainly is.

As the scientific community continues to learn more about individual genes and how and what they code for, it gives rise to increased personalized medical recommendations to support an individual’s genetic makeup. This blog will discuss an important gene called methylenetetrahydrofolate reductase, or MTHFR for short.

Deficiencies in production of the enzyme that the MTHFR gene codes for have been linked to an increased risk of heart attacks, stroke, venous thrombosis, several types of cancer and congenital defects (additional research here). Additionally, there have been links to this gene associated with bipolar disorder, Parkinson’s disease, Alzheimer’s disease and depression. Other research points to an association between the gene and migraines, ADHD, some cases of autism, epilepsy, infertility and recurrent miscarriages. It’s no wonder researchers and medical professionals have honed in on this particular gene as a therapeutic hotspot in personalized medicine.

The MTHFR enzyme is crucial for the successful operation of the methylation cycle. Some of its main jobs include:

  • breakdown of the amino acid homocysteine (elevated levels of homocysteine are an independent risk of heart disease)
  • production of methionine and SAMe
  • DNA production
  • neurotransmitter synthesis including dopamine, serotonin and norepinephrine
  • production of molecules necessary for regulating embryonic development

Of the over 40 possible mutations which have thus far been identified for this gene, there are two major SNPs (single nucleotide polymorphisms) which are currently thought to be most clinically significant. These are the C677T and A1298C variants. Each of us inherits one copy of the MTHFR gene from our mother and the other from our father. Multiple combinations may exist depending on the genetic makeup of both parents and which genes were handed down to the next generation.

• Wild type refers to no genetic variation in the gene.
• Heterozygous refers to one copy of the variation being present.
• Homozygous refers to two copies of the variation being present.

Someone with a C677T homozygous genetic makeup (they received the variant gene from both mother and father) has approximately a 70 percent reduction of the normal MTHFR enzyme activity while someone who receives only one copy (heterozygous) has an approximate 40 percent reduction of normal enzyme activity.

Just a few years ago, it was uncommon for someone to have their genes tested for these variants, but today this is a relatively easy and often inexpensive testing possibility. In some cases it may even be covered by insurance. Conventional labs offer this genetic analysis but require a lab order from a medical practitioner. Physicians may also request these labs through functional lab companies such as Genova Diagnostics and SpectraCell. Finally, direct to the consumer testing is also available and can easily be ordered by individuals seeking a comprehensive genetic analysis through private companies. A quick search on the internet for key phrases like “genetic analysis” or “personalized genetic testing” will give you multiple options for mapping and learning more about your genetic makeup.

Once genetic results are received, individuals should obtain a consultation or medical appointment with a provider who is knowledgeable about the information in the report. From there, providers can create personalized recommendations to target individual needs and findings. Personalized recommendations may include clinical nutrition, nutritional supplementation, prescription medication and lifestyle changes.

The author of this piece, Dr. Bianca Garilli, routinely consults with patients positive for many of the MTHFR genetic related conditions noted in this article. More information on MTHFR and chronic disease can be found in a previous article also authored by Dr. Garilli.

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