The most important thing to understand about genetics is that no one really understands it. The study of genetics and genetic disorders is so new, that it is like a giant jigsaw puzzle. Researchers have learned to identify the pieces, but they’ve just started putting them together.
The gene sequence which is involved in making MTHFR is one of the pieces that researchers have identified. More importantly, they have begun to recognize different forms of the gene. These different forms are called ‘polymorphisms’. So far, researchers have identified over 40 MTHFR polymorphisms, and nine of these MTHFR polymorphisms are common. So far, significant research has only been done on two.
The lack of research into most of the MTHFR polymorphisms isn’t because scientists and doctors aren’t doing all the research they can. It’s simply that there are not enough researchers to study all the MTHFR polymorphisms at the same time. So research has focused on the two most common ones. In time, researchers will learn about all of the MTHFR polymorphisms.
The two MTHFR polymorphisms that have been studied are called C677T and A1298T. C667T means that at the location 677 on the gene sequence, a gene that is supposed to be C (Cytosine) has been replaced with T (Thymine). A1298T means that a gene that was supposed to be A (Adenine) has been replaced with G (Guanine).
They are generally referred to as MTHFR 677 and MTHFR 1298. These are the two most common MTHFR polymorphisms. Around 40% of people with have either MTHFR 677, MTHFR 1298, or both.
The changes in the genetic code created by these polymorphisms change the enzyme, MTHFR. These changes affect how well MTHFR works and how it interacts with other chemicals in the body. Many health problems may be caused when MTHFR doesn’t work properly.Since each polymorphism changes MTHFR in a different way, each one creates a different variety of MTHFR, or MTHFR anomaly. This means each genetic polymorphism will lead to different health problems.
In addition to differences between polymorphisms, there is the wide variety of differences created by the combination of polymorphism and normal genes. Everyone has two copies of each gene, one from their mother and one from their father. This means that a person can two have normal copies of the gene, one copy with a polymorphism, two copies with the same polymorphism, or two copies with different polymorphisms.
When both genes are the same, doctors say they are ‘homozygous’. If the genes are different they are called ‘heterozygous’.
If you get genetic testing for MTHFR polymorphisms, the test results will come back saying one of the following:
• homozygous normal (both genes are normal)
• homozygous 677
• homozygous 1298
• heterozygous normal/677
• heterozygous normal/1298
Each of these combinations have different effects on the body, and produce different problems and symptoms. 677/1298 is the version which creates the most problems
Autism is a mental condition that develops in early childhood. A change in the way autism was diagnosed led to a huge increase in the number of children who were diagnosed with autism in the 1990s, and through the present time.
What is Autism?
Autism is defined as a developmental disorder that appears before a child is three years old. Symptoms include an inability to interact socially (doesn’t use body language, doesn’t develop friendships, difficulty empathizing, no interest in sharing feelings or interests with others), lack of communication (can’t or won’t talk, and doesn’t use mime, sign language or other alternatives to communicate) and specific behavior patterns (doing the same thing over and over again, needing everything in a specific routine, and others).
An autistic child is essentially locked inside a world of their own, and have difficulty interacting with the world and people around them.
There is no known cause of autism. Researchers believe that autism does not have a single cause, but that a wide variety of genetic and environmental factors may interact to cause autism. Autism does often run in families, and several genetic abnormalities have been found which may play a role in the development of autism.
What is the Connection between Autism and MTHFR?
At this point, almost the only thing we known about autism and MTHFR is that they are connected. No large scale studies have examined the connection, and many children with none of the MTHFR anomalies have developed autism. However MTHFR anomalies are far more common in children with autism than they are among children who do not have autism. Or put another way, research shows that children who have MTHFR 677 are more likely to develop autism.
There are several other things about the connection between autism and MTHFR that we don’t know for certain, but that research says are likely true.
MTHFR 1298 on its own does not seem to increase a child’s risk of developing autism. However, when a child has both MTHFR 677 and MTHFR 1298 anomalies, their risk of autism is much higher than in children who just have the 677 anomaly.
Autistic children frequently have low levels of the antioxidant glutathione and the protease cysteine. MTHFR anomalies cause low levels of these important biochemicals. It is possible that the low levels of these chemicals is one of the direct causes of autism, and that children with MTHFR anomalies are more likely to develop autism because they do not have enough glutathione and cysteine in their bodies.
Whether or not a mother has MTHFR 677 may impact her children’s risk of developing autism. One study found that a mother with MTHFR 677 who does not take folic acid during her pregnancy is more likely to have an autistic child. Mothers with MTHFR 677 who take folic acid during pregnancy don’t have a higher risk of their child developing autism, which is another good reason for pregnant women to regularly take folic acid.
Children with autism who have MTHFR anomalies function just as well as children with autism who don’t have MTHFR anomalies. This means the MTHFR anomalies don’t seem to make most autism symptoms worse.
There are four specific symptoms that MTHFR may make worse. Children with autism and an MTHFR anomaly may be more likely to have trouble meeting someone else’s eyes, engage in self-injury behaviors, be overactive, or make complicated movements with their whole body.
My Child has Autism/I have Autism, Should They Be Tested for MTHFR?
If you or your child has autism then you may want to arrange testing for MTHFR. Preliminary research suggests that folate treatment for autism may provide benefits, and that long term folate treatment can lead to clinical improvement. Knowing whether or not you have an MTHFR anomaly can help you determine what kind of folate supplement would work best. Getting tested will also make you aware of whether or not you are at risk for other health problems caused by MTHFR anomalies.
It also might be worthwhile to get tested for MTHFR if autism runs in your family.
I Have MTHFR 677, Will My Children Have Autism?
Many people have MTHFR anomalies and never develop autism. Researchers are still trying to understand what other risk factors for autism are and how and why they lead to autism. If your child inherits MTHFR 677 then they will have a higher risk of developing autism, but that does not necessarily mean that they will get autism.
There are a few things you can do to reduce the risk of your child developing autism. First, if you are a mother-to-be, make sure you take folic acid supplements throughout your pregnancy. Second, have your child tests for MTHFR anomalies as early as possible. If they have inherited MTHFR 677 or MTHFR 677/1298, then starting them on folate supplements, with a doctor’s supervision, may reduce their risk of developing autism.
Migraines are a neurological condition affecting over 20 million people. Migraines tend to run in families, indicating that there is a genetic basis for them. Recent studies have demonstrated that some kinds of migraines are related to MTHFR.
What are migraines?
Migraines are a type of headache. Migraines are more severe than more headaches and do not respond to typical pain relief medications. Most migraines include symptoms other than pain. Common migraine symptoms include nausea, sensitivity to light or sounds, throbbing pain and blurred vision. Most migraine sufferers have specific triggers which bring on a migraine. Common triggers include stress, alcohol, and chocolate.
There are generally considered to be two types of migraines: common migraines and migraines with auras. An aura is a specific symptom that occurs 20-30 minutes before the migraine. Most auras are visual changes, but an aura may be a ringing in the ears, a temporary hearing loss, light headness or many other things.
What is the connection between migraines and MTHFR?
There is no connection between common migraines and MTHFR, however there is a clear connection between migraines with auras and MTHFR 677. Migraines with aura are also a known risk factor for stroke (that is, people who get migraines with auras are more likely to have a stroke than people who do not have migraines with auras). Migraines with auras are also associated with strokes, which are also connected to MTHFR 677.
Researchers don’t know why MTHFR 677 and migraines are connected. Normally it is impossible to say which of two related medical conditions is cause and which is effect, or if a third condition is causing both. However, MTHFR 677 is a genetic condition which can’t be caused by anything. So when an MTHFR anomaly is connected to another health condition, it is safe to assume that the anomaly is the cause of that condition.
I get migraines with auras, should I get tested for MTHFR?
If you get migraines with auras and one or more other medical conditions related to MTHFR, if may be a good idea to get tested for MTHFR. If you don’t have any other medical conditions related to MTHFR, you might talk to your doctor about getting tested for homocystaemia. Getting tested for homocystaemia can give you information on another risk factor for stroke you should probably be aware of.
Schizophrenia is a severe and chronic mental illness that affects over 24 million people around the world. Doctors have known for years that there is a genetic component to schizophrenia. Recent studies have begun to shed light on this genetic component, and one of the genetic polymorphisms that contributes to schizophrenia is MTHFR 677.
What is schizophrenia?
Schizophrenia is a mental illness that is characterized by three kinds of symptoms: positive symptoms, or things caused by schizophrenia, include hallucinations, paranoia and disordered thoughts; negative symptoms, or things schizophrenia interferes with, include loss of interest in activities, lack of emotion, and loss of motivation; finally, cognitive symptoms are the ways schizophrenia interferes with comprehension. These include memory loss and difficulty understanding information.
Extreme cases of schizophrenia are severely disabling and many people with severe schizophrenia are institutionalized. Some medications may help with schizophrenia but for the most part it is a matter of treating the symptoms.
What is the connection between schizophrenia and MTHFR?
Numerous studies have found that people with MTHFR 677 are more likely to develop schizophrenia than those who do not have this MTHFR anomaly. Some studies have shown a possible connection between MTHFR 1298 and schizophrenia, but the connection, if it exists, is weak. Interestingly, the MTHFR 677 also affects the symptoms of schizophrenia. People with MTHFR 677 who develop schizophrenia are more likely to have severe negative symptoms and mild negative symptoms.
Aside from knowing that people with MTHFR 677 are more likely to develop schizophrenia little is known about the connection. One study has suggested that for some reason MTHFR 677 contributes to schizophrenia by lowering levels of dopamine, an important neuro-chemical, in the prefontal cortex.
Additionally, one small scale study found that children of mothers with MTHFR 677 were more likely to develop schizophrenia. This might be because of the way the genetic anomaly interferes with folic acid absorption or might be because children of mothers with MTHFR 677 are more likely to have MTHFR 677 themselves. The authors of the study noted that more research would need to be done to verify their results.
I have schizophrenia, should I get tested for MTHFR?
If you have several other health problems that can be caused by MTHFR as well as schizophrenia you should probably talk with your doctor about getting tested. Also, if your schizophrenic symptoms match the pattern of severe negative symptoms and mild negative symptoms, it might be worth getting tested. Even if you don’t get tested for MTHFR, talk with your doctor about starting folate treatments, because several other genetic anomalies that are involved in the same chemical processes as MTHFR can contribute to schizophrenia.
I have MTHFR 677, should I worry about developing schizophrenia?
If you have had any symptoms of schizophrenia and didn’t realize what they were, you should probably speak with a mental health professional. However, schizophrenia usually develops in childhood or the teen years. If you are over 25 and have no symptoms you probably won’t develop schizophrenia now. You should be aware of the increased risk of any children you have developing schizophrenia due to the possibility of their inheriting the genetic anomaly from you.
Stroke is one of the leading causes of death in the United States. More adults are disabled by strokes each year than by any other cause. So it’s safe to say that stroke is a serious problem which effects the health and lives of millions of people. There is no single cause of stroke, many things come together to cause stroke. One thing that can contribute to the risk of stroke is the 677 MTHFR anomaly.
What is stroke?
Stroke is the medical term for brain damage caused by loss of blood flow to a portion of the brain. There are several immediate causes of stroke, including blood clots, burst blood vessels and other vascular problems.
When blood is cut off to a part of the brain, for whatever reason, cells in the brain begin to die. if enough brain cells die, than a person will lose the abilities controlled by that part of the brain. The area of the brain that a stroke affects determines the degree and types of problems the stroke will cause. A minor stroke in the part of the brain that controls movement may leave a person with restricted range of motion while a severe stroke in the same area might cause paralysis.
What is the connection between MTHFR and stroke?
Numerous studies have been done to determine whether or not MTHFR anomalies increase the risk of stroke. So far, it appears that people who suffer from strokes are more likely to have the 677 MTHFR anomaly than people the same age who don’t suffer from strokes. While this doesn’t prove that 677 MTHFR increases the risk of stroke, it does suggest that there is a connection.
In addition to studies looking directly at MTHFR and stroke, there is the proven connection between homocysteinaemia and stroke. The 677 MTHFR anomaly is one cause of homocysteinaemia, and homocysteinaemia increases the risk of stroke. So having the 677 MTHFR anomaly can increase the risk of stroke by causing homocysteinaemia.
Researchers are still trying to determine if there is a direct connection between MTHFR and stroke. That is, does 677 MTHFR only cause stroke by causing homocysteinaemia, or do any MTHFR anomalies influence stroke risk in other ways?
I or someone in my family has had a stroke, should I get tested for MTHFR anomalies?
There are many causes of stroke, and many causes of homocysteinaemia. If you are suffering from any other health problems that may be caused by MTHFR anomalies, it might be worthwhile to look into MTHFR testing. If you are not suffering from any other MTHFR related-health problems, start by getting tested for homocysteinaemia. If that test comes back positive, then talk with your doctor about MTHFR as a possible cause. If it comes back negative, you need to look at other risk factors for stroke.
I have 677 MTHFR, will I have a stroke?
Stroke isn’t caused by any single thing. A stroke happens as a result of genetic predisposition, lifestyle choices, environment and general health. If you have 677 MTHFR you can reduce your stroke risk by keeping your blood pressure low and maintaining a healthy lifestyle. If you know you have 677 MTHFR, you should probably get tested for homocysteinaemia, and talk with your doctor about treatment options.
Having 677 MTHFR can increase you chances of having a stroke. However many people with 677 MTHFR never have a stroke, because they reduce other risk factors through diet and lifestyle choices.
Homocysteine is an amino acid that comes from animal protein. Normally the human body keeps the level of homocysteine low by constantly converting it into other amino acids. The MTHFR enzyme converts homocysteine to methionine through a process called ‘remethylation’. Sometimes something goes wrong, and the levels of homocysteine become higher than they should.
What health problems does homocysteine cause?
When homocysteine levels get too high, people often develop vascular disease. Many researchers believe that high levels of homocysteine cause vascular disease, but they haven’t determined how this happens. Some of the vascular disease problems that happen when people get high levels of homocysteine are hardening of the arteries, formation of blood clots, stroke and dementia. Several other medical problems may develop over time, especially if homocysteine levels are extremely high. When homocysteine levels in the blood are higher than they should be, it is called hyperhomocysteinaemia.
Homocysteine also causes oxidative stress. Homocysteine increases the levels of free radicals in the body, putting more stress on the body and lowering the levels of important anti-oxidants like glutathione.
What causes hyperhomocysteinaemia?
A number of things can cause homocysteine levels to rise. B12 and folate are both used in converting homocysteine to other amino acids. If a person has a deficiency in either B12 or folate, the body cannot convert homocysteine and the levels will rise. Some medications can cause high levels of homocysteine, especially medications that interfere with folate. There are several medical conditions that can lead to high homocysteine levels as well. The 677 MTHFR anomaly is one of several genetic conditions that can cause high homocysteine levels.
How does 677 MTHFR cause high homocysteine levels?
The 677 MTHFR anomaly creates a change in the MTHFR enzyme. The MTHFR enzyme created by the 677 anomaly is known as TL-MTHFR. Remember that the MTHFR enzyme converts homocysteine into another amino acid? The TL-MTHFR version works only half as well as the regular MTHFR enzyme. This means that only half the homocysteine is being converted to methionine, and a lot of homocysteine is being left behind to cause health problems.
If I have hyperhomocysteinaemia do I have 677 MTHFR?
Maybe. There are a lot of things that can cause high homocysteine levels. If you have high homocysteine levels you might want to get tested for MTHFR to be sure, and you should definitely talk with your doctor about other possible causes.
Among the most heartbreaking results of the MTHFR anomaly is the increase in the risk of stillbirths and early spontaneous abortion.
What are stillbirth and early spontaneous abortion?
A stillbirth occurs when a baby dies of natural causes after the 20th week of pregnancy. Stillbirths may be caused by infections in the womb, placental rupture, chromosomal abnormalities or physical problems. Many times doctors cannot tell what causes a stillbirth. Early spontaneous abortion is medical-speak for a miscarriage. A miscarriage occurs when a baby dies before the 20th week of pregnancy. Most miscarriages occur in the first 12 weeks of pregnancy.
What is the connection between MTHFR and stillbirths or miscarriage?
Research is ongoing into why MTHFR increases the risk of stillbirths and miscarriages. With modern medicine and better prenatal care, stillbirths are becoming less and less common. In the United States less than 1 in 115 pregnancies will result in a stillbirth. Miscarriages are more common than stillbirths, but still happen less often than they did in the past.
With stillbirths and miscarriages becoming less common, it is rare for a woman to have more than one stillbirth and multiple miscarriages are not common. Doctors and researchers have looked for reasons why some women continue to have multiple miscarriages and stillbirths. They found one answer in MTHFR. Studies have found that the majority of women who have multiple miscarriages have at least one copy (and often 2 copies) of the 677 MTHFR anomaly.
I’ve had a miscarriage, should I get tested for MTHFR?
If you’ve only had one miscarriage, it was in the first trimester and you are generally healthy, you probably don’t need to worry about getting tested for MTHFR anomalies. If you have some of the other health problems that MTHFR causes, if you have had multiple miscarriages, or if you have a stillbirth and the doctors can’t tell why, you should probably talk with your doctor about getting tested for an MTHFR anomaly.
I have MTHFR, what can I do to prevent a miscarriage?
A recent study found that taking folic acid reduced the risk of miscarriage for women who have MTHFR anomalies. You might also try eating foods like leafy vegetables that are naturally high in folate nutrients.
MTHFR anomalies can have a wide variety of effects. This is partly because of the widespread impact on MTHFR on the body’s metabolism, and partly because each anomaly has slightly different effect, leading to different health problems. In addition, the effects of MTHFR can vary depending on a person’s environment, lifestyle or other metabolic anomalies.
In this article you will find a brief introduction to some of the health problems that MTHFR causes. If you or someone you love is dealing with several of these health problems, especially if there is no clear cause for their illness, it is probably worthwhile to look into getting tested for MTHFR anomalies.
Health Problems Caused by MTHFR
Autism: MTHFR 677 and MTHFR 677/1298 both carry an increased risk of autism. Mothers with MTHFR who do not take folate supplements during pregnancy may be more likely to have children develop autism.
Birth defects: MTHFR 677 is associated with an increased risk of birth defects including neural tube defects and cleft lip.
Cardiovascular disease: One of the most common causes of death, cardiovascular disease affects millions of people world wide. Cardiovascular disease is associated with MTHFR 677.
Hypertension: Elevated blood pressure is more strongly associated with MTHFR 677 than other forms of cardiovascular disease.
Chronic fatigue syndrome: In 2011 it was discovered that there is a virus associated with CFS, and treatments are finally being developed. However there is also a relationship between CFS and MTHFR 1298. Perhaps the MTHFR anomaly in some way prevents the body from fighting off the virus.
Deep venous thrombosis (DVT): Deep vein thrombosis is the medical term for when a blood clot forms in a major vein and blocks blood flow to large parts of the body. Untreated, DVT is potentially fatal. Most often these blood clots form in the legs. MTHFR 677 is associated with an increased risk of developing DVT.
Dementia: Many people, as they get older, slowly lose cognitive functions. Their memory becomes weaker; their judgment and behavior become erratic, they have difficulty speaking or can’t think clearly. Most of the time dementia is a symptom of another illness, such as brain cancer. Sometimes dementia develops for no apparent reason. When no other cause for dementia may be found, in these cases MTHFR 1298 may be a factor.
Depression and anxiety disorders: MTHFR 1298 interferes with serotonin production. Low levels of serotonin are a frequent cause of mental health problems such as anxiety and depressive disorders.
Elevated homocysteine: Homocysteine is an amino acid that is produced by the body when breaking down proteins. High levels of homocysteine are associated with and believed to cause a number of health problems. People with MTHFR 1298 are likely to have high homocysteine levels.
Fibromyalgia: Frequently referred to as ‘fibro’, fibromyalgia is a chronic pain syndrome with no known cause. It frequently occurs alongside chronic fatigue syndrome. Fibro is more common among people with MTHFR 1298.
Heavy metals: People with all MTHFR polymorphisms have trouble clearing heavy metals. This can lead to heavy metal poisoning and the many health problems high levels of heavy metals in the body can cause.
Irritable bowel syndrome (IBS or spastic colon): A bowel disorder associated with cramping, pain, unusual bowl movements and is usually triggered by eating specific foods. IBS is more frequent in people who have MTHFR 1298.
Migraines: Migraines are a specific kind of headache which include pain focused behind the eyes, light sensitivity, ‘auras’ or visual effects, and other symptoms. Many people who have migraines find they are triggered by specific foods, stress and environmental factors. Some kinds of migraines are associated with MTHFR 677.
Oxidative Stress: Techinically, oxidative stress isn’t a health problem in the sense of a disease or medical disorder. Oxidative stress is damage done to the body by free radicals, and over time it leads to a wide variety of additional health problems.
Parkinson’s disease: Parkinson’s is a nervous disorder which interferes with the nerves and slowly destroys both fine and gross motor control. It is also frequently painful. People with the 1298 MTHFR polymorphism are more likely to develop Parkinson’s disease.
Peripheral neuropathy: Peripheral neuropathy is the medical term for when the nerves throughout the body stop functioning properly. This condition is a part of several poorly understood nervous disorders, including multiple sclerosis. MTHFR 677 is associated with increased risk of peripheral neuropathy.
Pre-eclampsia: Pre-eclampsia is a pregnancy complication which develops sometimes when a mother’s blood pressure is very high for an extended period of time. If untreated pre-eclampsia develops into eclampsia, which can lead to early labor and is potentially dangerous for both mother and baby. Mothers with MTHFR 677 are more likely to develop pre-eclampsia.
Renal failure (Acute kidney failure): The kidneys are responsible for filtering the blood, removing wastes and concentrating urine. Sudden (or acute) kidney failure is more likely in people who have any of the MTHFR polymorphisms.
Schizophrenia: Schizophrenia is a mental disorder whose symptoms include paranoia and hallucinations. It occurs more frequently in people who have MTHFR 677.
Stillbirth: A stillbirth is when a fetus dies of natural causes after the 20th week of the pregnancy. Early spontaneous abortion is when the fetus dies of natural causes before the 20th week. Women with MTHFR 677 are more likely to experience a stillbirth or multiple early spontaneous abortions.
Stroke: When blood flow to an area of the brain is suddenly cut off, parts of the brain are damaged. This is what is known as a stroke. A stroke may occurs when a blood clot forms inside the brain and cuts off blood flow, or when something else interferes with the flow of blood through the brain. An increased risk of stroke is associated with MTHFR 677.
Tetrahydrobiopterin problems: Tetrahydrobiopterin is an amino acid that plays several important roles tin the body’s function. Some people have a deficiency in tetrahydrobiopterin. These deficiencies may cause a variety of neurological problems. Tetrahydrobiopterin problems are more common among people with MTHFR 1298.
Researchers are still working to determine why the MTHFR anomaly may cause these problems. In time, they may find other health problems that are also related to MTHFR. Not everyone who has MTHFR problems will have these health issues, and many people who have some of these health problems do not have an MTHFR anomaly. Having an MTHFR anomaly increases the risk of developing these health problems, but other factors determine whether or not anyone will have a specific health problem. For instance, someone with an MTHFR anomaly will have difficulty clearing heavy metal from their body; but if they are not exposed to heavy metals, they will not get heavy metal poisoning.