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.
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.