http://www.freshideamama.com/mthfr-since-40-60-of-the-population-has-this-condition-and-it-is-the-underlying-cause-for-many-chronic-illnesses-shouldnt-we-all-be-getting-tested
I am not a doctor nor a medical professional. Everything on this post comes from my own research and conversations with other doctors, and should not be used to diagnose or treat any illness. This is not a medical article, and citing sources is the bane of my existence, so my intent for writing this is just simply food for thought.This post is also not meant to strike fear or worry into anyone, but rather give people who are struggling with certain health issues a possibility of healing, and an ownership of ones health.My sources for this post come from the teachings of Dr. Neil Rawlins, Dr. Ben Lynch, Dr. Amy Yasko, Dr. Katherine Erlich, and with chat's with my pediatrician, who promotes MTHFR testing.
Hi, I am compound heterozygous for MTHFR, which mutation do you have?
This is how I feel after spending the last month researching this extremely common, yet often undiagnosed, genetic mutation. Who would have thought something with such a funny name (my doctor referred to it as the "Monday-Thursday-Friday" mutation, hence M-TH-FR) would not only be so common, but also, possibly the cause of a monstrous slew of physical and mental issues effecting us today?
I will dive into more specifics below, but two of the main concerns of the MTHFR mutation are the following:
1. This mutation inhibits the body's ability to methylate, or convert folic acid into Methylfolate. Methylfolate is the active and usable form of folic acid, and if the body is not getting enough of this usable folate at the cell level, a dangerous cycle begins and leads to deficiency's and a multitude of health issues.
2. Our ability to detoxify is extremely hindered. Think of a revolving door…. On a daily basis, toxins are coming in, and in a normal healthy individual, toxins are also coming out. But when you have this MTHFR mutation, toxins get trapped, and will continue to build up over the years.
1. This mutation inhibits the body's ability to methylate, or convert folic acid into Methylfolate. Methylfolate is the active and usable form of folic acid, and if the body is not getting enough of this usable folate at the cell level, a dangerous cycle begins and leads to deficiency's and a multitude of health issues.
2. Our ability to detoxify is extremely hindered. Think of a revolving door…. On a daily basis, toxins are coming in, and in a normal healthy individual, toxins are also coming out. But when you have this MTHFR mutation, toxins get trapped, and will continue to build up over the years.
MTHFR, what exactly is it?
The MTHFR gene is responsible for making a functional MTHFR enzyme (yup, in case you're wondering, MTHFR is the name of both the gene AND the enzyme). This enzyme is a key regulatory enzyme in the metabolism of folate, and the gene itself has a very important and complex role. If the MTHFR gene is mutated, the MTHFR enzyme will not function properly.
The most common MTHFR gene mutations are found at position C677T and/or position A1298C on the MTHFR gene. There other known MTHFR variant's, but these are the most studied. Below are the possible combinations of MTHFR gene mutation.
The most common MTHFR gene mutations are found at position C677T and/or position A1298C on the MTHFR gene. There other known MTHFR variant's, but these are the most studied. Below are the possible combinations of MTHFR gene mutation.
So what is the difference between the 677 and 1298 gene mutation?
Mutation 677 – This mutation is most commonly associated withheart disease, heart attack, stroke, blood clots, peripheral neuropathy, anemia, miscarriages, congenital birth defects, and more.
Mutation 1298 – This mutation is most commonly associated with chronic illnesses, such as; depression, fibromyalgia, chronic fatigue syndrome, migraines, IBS (Irritable Bowel Syndrome), Memory loss, Alzheimer's and Dementia, OCD, Bipolar, Schizophrenia, and more
Why is it associated with all these illnesses?
Methylation
The Methylation Cycle is the major biochemical pathway in our bodies that contributes to a wide range of crucial body functions, such as detoxification, immune function, mood balancing, and more. If one pathway is hindered, such as in the case of MTHFR mutations, other pathways which are reliant on it, will also be hindered. This will end up causing a "hindered" ripple effect throughout the entire body, and many of its processes, resulting in a myriad of chronic diseases.
The Methylation Cycle is the major biochemical pathway in our bodies that contributes to a wide range of crucial body functions, such as detoxification, immune function, mood balancing, and more. If one pathway is hindered, such as in the case of MTHFR mutations, other pathways which are reliant on it, will also be hindered. This will end up causing a "hindered" ripple effect throughout the entire body, and many of its processes, resulting in a myriad of chronic diseases.
For example, think of the body as a major highway. When one "lane" is blocked, this ties up traffic until it is fixed, or until there is a detour available. Although, many times the detour is not always efficient, and not only use more energy, but is also prone to back-ups and problems.
In the specific case of MTHFR mutations, the enzymes are responsible for converting folic acid into methylfolate, which is the active, and usable form of folate. Folic Acid is actually a synthetic form of folate, not found in nature, and unless it is converted into methylfolate, the body's cells can't use it. The tricky part, is that this conversion from folic acid to Methylfolate is a 4-step process, and those with the MTHFR genetic defect cannot properly complete this process, resulting in a severe lack of the ever-so-important methylfolate.
As mentioned above, when one pathway is sluggish, this creates a ripple effect, and when the body is in constant low supply of methylfolate, many other functions are affected, below are two major pathways which are affected.
1. Glutathione
When you have the MTHFR mutation, the pathway for Glutathione production is partially blocked and you have much lower levels than normal. Glutathione is the key antioxidant and detoxifier in our body, so when its production is hindered, one is more susceptible to stress and less tolerant to toxins. As we age, the accumulation of heavy metals and toxins grows, and may lead to a multitude of symptoms including disease, memory loss, rashes, premature greying hair, hair loss, social deficits, migraines, depression, anxiety, nausea, diarrhea, cancers, and more.
Also, as mentioned above, since 98% of children who are autistic have a form of this MTHFR mutation, then it seems likely there is a correlation, right? Wouldn't it make sense that a person who cannot detoxify properly, will slowly begin to build up a dangerous load of toxins? Now, the human body is amazing, and we are pretty hardy and adaptable, some of us can get every vaccine in the book, eat a standard American diet, live right under cell phone towers, and drink tap water everyday, and not develop any major health or mental issues. But what if some of us are not so hardy due to genetic predisposition?
2. Homocysteine and Methionine
A lack of methylfolate also hinders the multi-step process that converts the amino acid homocysteine, to another amino acid, called methionine. As a result, homocysteine builds up in the bloodstream, and the amount of methionine is reduced. The body needs methionine to make proteins and many other important compounds. It also aids many processes in the body, from breaking down histamine, seratonin, and dopamine. Thus, this defective methylation pathway is associated with psychiatric illnesses, such as schizophrenia, depression and bipolar, as well as autoimmunity disorders, ADD, autism.
Another issue involving elevated homocysteine levels is called hypercoagulability, this means your blood clots more easily than it should. This is especially a cause of concern during pregnancy. As mentioned above, there are various forms of MTHFR mutations, and some will be more serious than others as far as their ability to cause problems during a pregnancy. Although still under debate, many believe that these mutations can cause blood clots between the developing placenta and uterine wall, thus preventing transport of nutrients and oxygen to the developing baby. This usually occurs early in pregnancy when the baby is most vulnerable. Many women today who experience recurrent pregnancy loss, will be tested for MTHFR.
Elevated homocycteine is also frequently found in pregnant woman who experience preeclampsia (elevated blood pressure), placental abruption (where the placenta detaches from the uterus), giving birth to a small, low-birth-weight baby (called intrauterine growth restriction), and neural tube defect (an abnormality of the fetal spine or brain). However, there is a difference of thought on whether homocysteine levels may be a consequence of these complications, or if there is a cause........ but the link is there, and extreme importance would be made to make sure homocysteine levels are normal during pregnancy, especially those with MTHFR.
As mentioned above, when one pathway is sluggish, this creates a ripple effect, and when the body is in constant low supply of methylfolate, many other functions are affected, below are two major pathways which are affected.
1. Glutathione
When you have the MTHFR mutation, the pathway for Glutathione production is partially blocked and you have much lower levels than normal. Glutathione is the key antioxidant and detoxifier in our body, so when its production is hindered, one is more susceptible to stress and less tolerant to toxins. As we age, the accumulation of heavy metals and toxins grows, and may lead to a multitude of symptoms including disease, memory loss, rashes, premature greying hair, hair loss, social deficits, migraines, depression, anxiety, nausea, diarrhea, cancers, and more.
Also, as mentioned above, since 98% of children who are autistic have a form of this MTHFR mutation, then it seems likely there is a correlation, right? Wouldn't it make sense that a person who cannot detoxify properly, will slowly begin to build up a dangerous load of toxins? Now, the human body is amazing, and we are pretty hardy and adaptable, some of us can get every vaccine in the book, eat a standard American diet, live right under cell phone towers, and drink tap water everyday, and not develop any major health or mental issues. But what if some of us are not so hardy due to genetic predisposition?
2. Homocysteine and Methionine
A lack of methylfolate also hinders the multi-step process that converts the amino acid homocysteine, to another amino acid, called methionine. As a result, homocysteine builds up in the bloodstream, and the amount of methionine is reduced. The body needs methionine to make proteins and many other important compounds. It also aids many processes in the body, from breaking down histamine, seratonin, and dopamine. Thus, this defective methylation pathway is associated with psychiatric illnesses, such as schizophrenia, depression and bipolar, as well as autoimmunity disorders, ADD, autism.
Another issue involving elevated homocysteine levels is called hypercoagulability, this means your blood clots more easily than it should. This is especially a cause of concern during pregnancy. As mentioned above, there are various forms of MTHFR mutations, and some will be more serious than others as far as their ability to cause problems during a pregnancy. Although still under debate, many believe that these mutations can cause blood clots between the developing placenta and uterine wall, thus preventing transport of nutrients and oxygen to the developing baby. This usually occurs early in pregnancy when the baby is most vulnerable. Many women today who experience recurrent pregnancy loss, will be tested for MTHFR.
Elevated homocycteine is also frequently found in pregnant woman who experience preeclampsia (elevated blood pressure), placental abruption (where the placenta detaches from the uterus), giving birth to a small, low-birth-weight baby (called intrauterine growth restriction), and neural tube defect (an abnormality of the fetal spine or brain). However, there is a difference of thought on whether homocysteine levels may be a consequence of these complications, or if there is a cause........ but the link is there, and extreme importance would be made to make sure homocysteine levels are normal during pregnancy, especially those with MTHFR.
MTHFR Treatment:
The normal protocol used in doctor offices today for MTHFR mutations (especially during pregnancy) is to go on a mega dose of folic acid, usually around 1+mg. As mentioned above, folic acid is a synthetic form of folate, and is added to many of today's foods, and most all multi-vitamins.
The problem with this supplementation is that, MTHFR mutations are not a "one size fits all". Those with the mutation on the C677T location, have an especially hard time converting folic acid into methylfolate, so even though you are taking such high levels of folic acid, you body cannot use it, and folic acid is useless unless it is converted into usable methylfolte. There is also controversy over whether or not unused folic acid can potentially build up in the body, which has been suspected to stimulate pre-existing cancer cells, promote inflammation, and aid in cognitive decline
So what should you take? Since MTHFR patients are defective in the conversion process from folic acid to methylfolate, they should be given pure methylfolate, which is the already converted and usable form they are deficient in. This way the defect is "by-passed".
The tricky part when it comes to methylfoate supplementation, is the dosing. There is no standard, and since most non-integrative doctors still prescribe folic acid, it is hard to figure out proper dosing. It is somewhat a "guess, test, and revise" approach, which is not ideal of course. The key is to start out slow in very small doses and work your way up.
The problem with this supplementation is that, MTHFR mutations are not a "one size fits all". Those with the mutation on the C677T location, have an especially hard time converting folic acid into methylfolate, so even though you are taking such high levels of folic acid, you body cannot use it, and folic acid is useless unless it is converted into usable methylfolte. There is also controversy over whether or not unused folic acid can potentially build up in the body, which has been suspected to stimulate pre-existing cancer cells, promote inflammation, and aid in cognitive decline
So what should you take? Since MTHFR patients are defective in the conversion process from folic acid to methylfolate, they should be given pure methylfolate, which is the already converted and usable form they are deficient in. This way the defect is "by-passed".
The tricky part when it comes to methylfoate supplementation, is the dosing. There is no standard, and since most non-integrative doctors still prescribe folic acid, it is hard to figure out proper dosing. It is somewhat a "guess, test, and revise" approach, which is not ideal of course. The key is to start out slow in very small doses and work your way up.
...
- Avoiding synthetic folic acid in supplements and fortified foods, and instead, using supplements with the methylfolate and methylcobalamin.
- Continue to avoid dairy and wheat products. There has been speculation that there is a correlation between mutations on the C677T gene and an intolerance to these two foods. (Whether this is just speculation or truth, I know for a fact that I, as well as my son's, cannot tolerate either of these.)
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