GENERAL INFORMATION ABOUT THE GENETIC TEST

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

Depression

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:

1. Serotonin (linked to obsessions and compulsions and memory)
2. Nor-epinephrine (linked to alertness, concentration and energy)
3. 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.

• 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 http://medical-dictionary.thefreedictionary.com:

• Two copies:  Homozygous

• One copy: heterozygous

“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.

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

Cynthia

Dr. Klinghardt is a neurobiologist, an integrative physician and is a leading proponant of holistic treatment. He studies the nervous system in an interdisciplinary way that involves other disciplines such as psychology, computer science, statistics, physics, philosophy and medicine.    He is a fierce advocate for patient self-care; he publishes and teaches his approach in America and Europe to educate us about prevention and natural treatments  so that we all have access to the means of cleansing, balancing and healing ourselves.   His work is , in many respects, consistent with other naturopathic physicians in that he seeks to assist the human body to function optimally through the use of herbs, homeopathic medicine and lifestyle changes.  He has added an energy medicine component for both diagnosis and treatment and is in the forefront in proposing this ancient, and at the same time, newest and most promising approach to healing.

The foundation of his approach is based on his understanding of the five levels of healing. While in India about 30 years ago he went to a lecture given by a Guru (wise man) who talked about an ancient  (12,000 years old) Tibetan philosophy based on an understanding of humans as beings comprised of five different levels: the physical, the electromagnetic, the mental, the intuitive body, and the spirit body.  All but the physical are invisible to the human eye, although some people can “see”, feel or sense fields of energy relating to the other, usually invisible aspects.

The premise that is most fascinating for our purposes is that in order to be well, all levels of the human being must be healed.  This is so because the physical aspect of us is the materiel manifestation of all the other components.  The other four layers interpenetrate with the physical and affect the health of the physical being.

Let’s reference each of these layers and briefly touch on how each of these layers relate to illness.  Let’s say that a person has been diagnosed with Lyme disease.  On a physical level it means that bacterial organisms are multiplying in the body, moving to different parts of the body, generating neuro-toxins which cause symptoms in their own right.  It may be that the physical body has been diagnosed with heavy metal toxicity, for example, mercury, and that the toxins need to be cleared so that the body may more effectively fight it’s battle against the bacterial invaders.  This is the world of orthomolecular and allopathic medicine.  On this level antibiotics may be prescribed to kill off the unwanted organisms, detoxifying herbs given for clearing out the neuro-toxins and by-products of the die-off.

On the second level, the electromagnetic level, it may be seen that the patient has developed an inflammatory response (physical level) that produces inflamed, painful energy in response to the direct effect of the bacteria, or the by-products of their living and dying. This energy may be present in the physical mass of muscles, joints,or organs.  Since pain causes us to contract, resist or avoid, that energy may become stuck or constricted.  Within this model, healing energy work, such as Reiki, Hands on Healing, acupuncture, reflexology, or (in Dietrict Klinghart’s lexicon) Autonomic Response testing may be used.  Through the movement and clearing out of painful, inflamed energy the void is then filled with the natural life force within all human beings; it then has a chance to flow and heal.  Note:  according to this model, the layers below (in this case the physical) are affected positively.

On the third level, the mental body, unresolved emotional conflict creates a disturbance in (what is known in neuroscience as) the bio-photon field which surrounds the body, and is generated by the DNA.

Neuro-science tells us that short term memory is tracked in brain circuitry (first level); according to this way of understanding the human, long term and extrasensory perceptions reside in the energy field that surrounds the body- the physical brain is seen as a “tuner” for memory storage. 

Fritz-Albert Popp, a German physicist pioneered research about the vibrational nature of our cells, and is reported to have confirmed the existence of biophotons which emit tiny quantities of light.  We are beginning to understand how these invisible entities communicate complex information and orchestrate metabolic function.  For details about this go to mercola.com to see an interview of Klinghardt on the subject – fascinating!)

If this Lyme disease patient were to enter into psychotherapy there may be found traumatic, unresolved issues in their own life history, or in the family history that may have been passed on.  This unresolved history is held in the field of energy that surrounds the physical body.  By facing and resolving this (conscious, unconscious or sub-conscious) pain, that then allows a flow and healing of the energy body that would otherwise weigh down or inhibit full healing.

The forth level of healing is identified as the Intuitive body.  It is realm of the shaman, the religious, the spiritual, and your metaphysical experiences.  Dr. Klinghardt postulates that on this level unresolved conflict and trauma from a person’s past and from their history can generate physical illness.  Unless these traumas are faced and resolved, they may act out these unresolved issues in spite of a medical approach dealing only with the physical body.

So for our purposes, with this same Lyme disease patient, if this person, for example, had parents or grandparents who were sexually or physically abused, the unresolved trauma may be carried on the the person’s memory/field of energy;  unless faced, mourned and the associated feelings of anger, rage and despair are released, the effects of the trauma are played out in the present.  Klinghardt developed something he calls Family Constellation work to delve into the family history and therapeutically identify and resolve the trauma.

Our Lyme patient may receive the best treatment for the physical components of Lyme disease, but, according to this model, the patient will be vulnerable to continued illness unless this “contaminating” emotional disability is healed through psychotherapy, family therapy or other uncovering and healing teahniques.

The fifth level of healing, the individual’s connection to the divine, is deeply personal, and is the most important and largest part of the human being.  This is the level of self-healing and relates to the “highest self”.

Klinghardt’s premise is that illness can originate on any of the four lower levels and unless the source of the illness is healed disease will be resistant to healing, or it may transform into another form of disease.  Illness that is treated symptomatically but that does not treat the actual cause of the illness is short-sited and will likely be unsuccessful.

This concludes my summary of Dr. Klinghardt’s work.  I hope you have found it as stimulating and as interesting as I have.  Please let me know what your thoughts are, and send along any questions you may have!

Cynthia

It is as though Dr.Eva Sapi is on a Safari in the deepest jungle in Africa.  She is mapping out a totally unknown area of the world filled with dangerous animals, new forms of life never seen by man (or woman) and she is armed only with her microscope.  She is in this reality Eva Sapi, Ph.D., assistant professor of cellular and molecular biology at the University of New Haven, Connecticut.  Her brand new article in the Lyme Times summarizes her research on an entity called biofilm.  A rather dry word, but an amazing concept.  For those of us lay persons interested in Lyme disease and co-infections and why it appears that some people have chronic infection the concept is revolutionary in its possibilities.

Here is how it works:  the research shows that when enough microbes gather they begin to adhere to each other or to living or inert surfaces.  These organisms then communicate to each other and start a change in “gene expression” that allows the cells to produce something called “exopolysaccharide” which becomes a “protective matrix“.

Like a moat which surrounds the castle it provides protection from attacking forces – like phagocytes or antibacterial agents!  Not only that, German scientists  using  marine bacteria identified that this biofilm actually is capable of  releasing a paralyzing agent.  “It appears that biofilm is not just a defensive fortress, it can also fight back.”

Dr. Sapi in conjunction with Dr. Alan MacDonald has recently worked “in vitro” to study biofilm formation of Borrelia burgdorferi. In her words:  “In summary, if we can demonstrate that biofilm structure of Borrelia burgdorferi renders them resistant to antibiotics, it could provide a logical explanation as to why extensive antibiotic treatment for patients with a tick-bite history could fail.  The end result from our study could provide novel therapeutic approaches for Lyme literate physicians to explore for chronically ill patients”

Please go to lymetimes.org for the above-reviewed article in its entirety and join to receive the most up-to-date research and support.

Cynthia