Genetic Testing for Depression?

Well, I find it very interesting that we may be on our way to understanding depression from a different perspective – especially for those who have been on antidepressants and have not found lasting effective treatment. This new knowledge has led to a natural vitamin treatment without side effects!


The genetic test – which can be done from a simple blood draw- is called the MTHFR test. The official name of this gene is “5,10-methylenetetrahydrofolate reductase” (NADPH). MTHFR is the gene’s official shorthand symbol – and now you know why! Just for an interesting clarification, the gene is located on the short (p) arm of chromosome 1 at position 36.3.

The normal function of this gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This hormone plays a key role in processing amino acids, the building blocks of proteins. If a mutation occurs in the MTHFR gene, folate/B vitamins may not be broken down in such a way that the body can utilize them.

(Let it be known that this research and information is very difficult to understand and translate; in fact, it is nearly indecipherable to this lay person! I have struggled with it and the following is hard won information which I hope will help you to understand this complex and emerging field.)

From a review of some of the literature and research on the MTHFR genetic abnormality, mutations of this gene may be implicated with the following:

  • elevated homocystiene levels (a potentially toxic amino acid) leading to heart problems
  • venous thrombosis
  • blood clotting issues
  • certain types of severe birth defects (for example, neural tube defects)
  • miscarriages
  • high blood pressure in pregnancy
  • coronary heart disease and stroke
  • mental illness, most often connected with depression and possibly schizophrenia

Researchers from all over the world are publishing studies searching for additional connections; a lot more information is on the way


In reference to my focus on mental health, The Hordaland Homocysteine Study is the one most quoted for their research connecting the MTHFR 677C-T mutation with difficulty metabolizing folate and B12; this leads to issues of elevated homocysteine, anxiety and depression. Another important study is entitled: “The Thermolabile variant of the MTHFR is associated with depression in the British Women’s Heart and Health Study and a meta-analysis.”

Both of these studies suggest that due to the body’s inability to metabolize folate/ B- 12 there is a greater risk of depression. Here is how it appears to work:

• Depressive symptoms may be linked to insufficient neurotransmitters or imbalance of one or more of the three neurotransmitters: Serotonin (linked to obsessions and compulsions and memory) Nor-epinephrine (linked to alertness, concentration and energy) Dopamine (linked to pleasure, reward, motivation and drive)

• When these three neurotransmitters are in sufficient quantity and in balance, anxiety is reduced, impulse control and irritability is minimized, there is a capacity for positive mood and good cognitive function, attention can be maintained, and appetite is in normalized. There is also normalized sexual drive and reduced aggression.

Your doctor or other health care provider may prescribe antidepressants to treat the imbalance of these neurotransmitters. However, what we have come to see is that a significant portion of the population that does not respond successfully to antidepressants.

• This research may point to the reason for ineffective treatment of depression by antidepressants alone. The theory here is that the brain may not be producing enough neurotransmitters due to insufficient amounts of L-methylfolate in the brain. L-methylfolate is needed to regulate serotonin, nor-epinephrine and dopamine production. Without enough L-methylfolate it may be difficult for the brain to produce enough neurotransmitters for the antidepressant to work fully.

1. An abnormality in the MTHFR gene prevents the breakdown of folate/B vitamins; as a result, the neurotransmitter building blocks are not available for health brain function. By taking an activated, or metabolized form of folate/B vitamins the body is then able to produce sufficient neurotransmitters . This alone may improve functioning for some; for others, by combining the activated form of folate/B12 with antidepressants, improved results follow.

• 70 percent of those with a diagnosis of depression may have a specific genetic factor that limits their ability to convert folic acid or folate from food or supplements to L-methylfolate.

The prescription Deplin is actually L-methylfolate in an active, metabolized form that can cross the blood brain barrier to help the brain regulate these important neurotransmitters associated with mood. This is a prescription item only, and is not available in drug or health food stores off the shelf.

There are no side effects with this product (as reported by the company that produces Deplin); patient surveys have shown 86 percent symptom improvement.

Test results show that if there is a positive genetic mutation it may be what is called homozygous or heterozygous. Here is a more detailed explanation of the definition of these terms. These definitions are taken from

• Two copies: Homozygous ffff Etymology: Gk, homos + zygon, yoke Identical genes controlling a specified inherited trait.

“having two identical alleles at corresponding loci on homologous chromosomes. An individual who is homozygous for a trait has inherited from each parent one allele for that trait. A person who is homozygous for a genetic disease caused by a pair of recessive alleles, such as sickle cell anemia, manifests the disorder. All of his or her offspring will inherit the allele for the disease.”

• One copy: heterozygous fggff Etymology: Gk, heteros + zygotos, yoked Two different genes controlling a specified inherited trait.

“having two different alleles at corresponding loci on homologous chromosomes. An individual who is heterozygous for a trait has inherited an allele for that trait from one parent and an alternative allele from the other parent. An individual who is heterozygous for a genetic disease caused by a dominant allele, such as Huntington’s disease, manifests the disorder. A person who is heterozygous for a hereditary disorder produced by a recessive allele, such as sickle cell anemia, is asymptomatic or exhibits reduced symptoms of the disease. The offspring of a heterozygous carrier of a genetic disorder have a 50% chance of inheriting the allele associated with the disorder if the other parent does not carry the allele.”

(While this level of detail is not easily understood, I wanted to insert it here since this is the language that geneticists use in sharing the results of the genetic tests administered.)

What all this complex information means is that it is now possible to effect positive emotional changes by identifying these genetic abnormalities and adding to the treatment regimen an activated (metabolized) B vitamin, thereby aiding in the production of neurotransmitters, which are the basis for health brain function. These are the potential benefits to this protocol:

  • motivation
  • alertness
  • initiative
  • concentration
  • improved mood
  • sociability

This is new information and much more research is needed to understand how the genetic mutations of the MTHFR gene affect us; what is exciting is that the introduction of a natural vitamin may provide the key to improved mental health in over 70% of people with depression.

Does genetics determine our fate? Not necessarily. Some genetic predispositions can be altered by understanding and altering our diet and lifestyle. This is called Epi-Genetics! Above and beyond genetics. Welcome to the new world.

Here is what happened to one of my patients that had lifelong unremitting depression after she started taking methylated B vitamins.

"My whole life I have been depressed, as long as I can remember, even as a child. I continually felt a heavy cloud over my head. At times I was so depressed I actually had suicidal thoughts. The antidepressants just took me out of the deep hole, but left me feeling numb. I didn't have the capacity to feel joy at all. And I was riddled with terrible side effects of the medication at the dosage that was prescribed.

As I got older I wanted to really feel life, not just level out. I got on the spiritual road because I wanted to be part of something bigger. I wanted to feel the joy of it. I finally went to Cynthia for psychotherapy. I picked her because she was not only a trained and experienced psychotherapist but also because a Reiki Master. Intellectually I knew we are all energy but I didn't know how to translate that understanding into freeing myself from the heavy darkness of depression.

In a surprising turn of events Cynthia identified that I might have a genetic abnormality: she said that many people do not have the ability to metabolize B vitamins due to a genetic abnormality, and it can lead to many dysfunctions including mental health conditions. There is a simple blood test that can easily identify it, but in my case I just tried the B vitamins. Once on a methylated B vitamin regimen in addition to a low dose of antidepressant, my life has transformed. It happened quickly! I feel lighter and more optimistic! Now I can feel the joy of bing alive and feel gratitude! I am so excited! I am planning on taking classes with Cynthia in order to continue my education as a Reiki Practitioner! I am part of her Reiki Share group so I am finally with like-minded Spiritual seekers. I am part of life now! I can finally feel!!! Thank you Cynthia, for helping me find my way out of the dark!"

I will keep you posted as I gain more knowledge of this critically important emerging field.