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MTHFR and emotional eating, MTHFR and addictive tendencies
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MTHFR and emotional eating, MTHFR and addictive tendencies
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Understanding MTHFR C677T Nomenclature and Terminology

  • 677 is the marker for this  MTHFR gene. C and T are the possible base pairs.
  • The official genetics labeling of this gene is Rs1801133.
  • The C andT stand for the nucleotide bases you could have. C = cytosine, T = thymine. Essentially “C677T” means At location 677 there is typically a cytosine (C) but there is actually thymine (T).
  • The “wild-type” or typical form of this gene is C677C. This has a cytosine on both copies.
  • You have two possible copies of the MTHFR C677T gene – one from each parent.
  • Two wild-type copies = typical genetics. No polymorphism. (C677C)
  • One wild-type and one altered copy = heterozygous MTHFR mutation. (C677T)
  • Two altered  copies = homozygous MTHFR mutation. (this is sometimes just written as C677T homozygous and sometimes as 677TT. Occasionally I see T677T.)
  • The C677T polymorphism results in an amino acid substitution in the final protein of the MTHFR enzyme. This is an ala222-to-val (A222V) substitution. This means in the MTHFR enzyme that the gene manufactures, there is supposed to be an alanine, but instead, we see a valine.
    This mutation changes the enzyme significantly enough to see a reduction in function.
  • This substitution happens in the part of the enzyme that is presumed to be the catalytic region.

FAQ

Is MTHFR C677T worse than other MTHFR mutations?

The biggest difference that we know of between the C677T and the A1298C mutation is the level of enzyme compromise. Because this particular polymorphism is associated with a higher level of enzyme compromise, it seems to have more serious effects, but logically that is likely due to the level of compromise.

It is difficult to say if there is a significant difference independent of the degree to which it slows down the enzyme. Of course, more research might reveal something, but at this time the degree of compromise in the enzyme activity seems to be the strongest determinant of how much you are affected.

The internet says C677T is so much worse

I have seen every kind of article claiming that A1298C mutations have more tendency towards neurotransmitter imbalance than C677T, Also, that C677T mutations are more likely to lead to high homocysteine. But as far as I can tell, this started with someone making some kind of conclusion, and then the rest of the internet echoing that same conclusion back to them without bothering to actually do the research.

As far as the research I have seen, the thing that matters is how compromised your MTHFR enzyme is, in combination with how much active folate you’re getting. As more research is completed this idea might be refined, revised, or even overturned completely, but for now, this is it.

Of course, someone might have a compelling argument why I’m wrong and honestly, I would love to hear it, and even more, I”d love to see the research!

How Accurately Do We Understand the Enzyme Compromise with C677T?

It’s kind of fascinating, actually, that we speak with such conviction about things like level of compromise, when in reality there are very few studies, and those studies don’t  agree with each other. The three that were used for the ranges in this article are linked below. You will note that the difference between a 36% activity and a 60% activity is almost a factor of two, and yet between two different studies, the range was that broad. So obviously, the research has a long way to go.

what does it mean to be positive for two copies of the c677t mutation?

The C677T mutation is a genetic variation that occurs in the gene that codes for an enzyme called methylenetetrahydrofolate reductase (MTHFR). This enzyme is involved in the metabolism of folate, which is a B vitamin that is essential for many bodily processes, including the production of DNA and red blood cells.

When someone is positive for two copies of the C677T mutation, it means that they have inherited one copy of the mutation from each parent. This can lead to a reduced activity of the MTHFR enzyme, which in turn can affect the body’s ability to utilize folate effectively. This can increase the risk of certain health conditions such as cardiovascular disease, neural tube defects, and blood clots.

It’s important to note that having two copies of the C677T mutation does not necessarily mean that an individual will develop these conditions. The effect of this genetic variation on health outcomes is complex, and many other factors such as diet, lifestyle, and other genetic variations, can also influence the risk.

If you are positive for two copies of the C677T mutation, it is advisable to consult with a genetic counselor or healthcare provider to discuss the potential implications on your health and the options for managing the risks. Additionally, you may be recommended to follow a diet rich in natural folate and avoid foods and supplements fortified with synthetic folic acid, which can decrease the activity of this enzyme further.  There are supplements that can help compensate for the reduced activity of the MTHFR enzyme, such as methylfolate, SAMe, choline, and others.

How is mood affected by the mthfr c677t mutation?

The MTHFR C677T mutation can affect mood in several ways. The mutation leads to reduced activity of the MTHFR enzyme, which can affect the metabolism of folate, a B vitamin that plays a crucial role in many bodily processes including the production of neurotransmitters, which are chemicals in the brain that transmit signals between nerve cells.

Folate is needed to convert the amino acid homocysteine into methionine, which is required for the production of the neurotransmitters serotonin, dopamine, and norepinephrine. These neurotransmitters are responsible for regulating mood, and their imbalance can lead to depression, anxiety and other mood disorders.

Additionally, the C677T mutation can lead to an accumulation of homocysteine in the blood, which is a known risk factor for cardiovascular disease, and this can also contribute to the development of mood disorders.

It’s important to note that not everyone with the C677T mutation will develop mood disorders, and many other factors such as diet, lifestyle, other genetic variations, and environmental influences also play a role in regulating mood.

If you are positive for two copies of the C677T mutation and experiencing mood disorders, it is advisable to consult with a healthcare provider or a genetic counselor. They may recommend a diet rich in folate, supplements such as methylfolate and other interventions that can help to manage the symptoms. Additionally, they may also recommend therapy or medication to manage the mood disorders.

What supplements to take for mthfr c677t mutation?

If you have been diagnosed with the MTHFR C677T mutation, there are several supplements that may be recommended to help manage the condition and reduce the risk of related health issues. Some of the most commonly recommended supplements include:

Methylfolate: This is the active form of folate and can bypass the MTHFR enzyme, ensuring that your body can still use folate effectively. It’s important to note that not all people with the C677T mutation will benefit from methylfolate, and it should be taken under the guidance of a healthcare provider.

Vitamin B12: This vitamin is needed to convert homocysteine into methionine, and can help to lower homocysteine levels in the blood.

Vitamin B6: This vitamin helps in the conversion of homocysteine to cystathionine and also helps in the metabolism of methionine.

Vitamin B2: This vitamin helps in the conversion of homocysteine into cysteine.

Trimethylglycine (TMG): TMG is also known as betaine and it can also help to lower homocysteine levels in the blood.

Magnesium: This mineral is essential for many bodily processes and can help to lower homocysteine levels in the blood.

It’s important to consult with a healthcare provider or a genetic counselor before taking any supplements, as they can interact with other medications or have other side effects. Additionally, they will be able to recommend the right dosage and duration of the supplement that is best for you.

It’s also important to note that while supplements can be helpful, they are not a substitute for a healthy lifestyle and diet. A diet rich in fruits, vegetables, whole grains, and lean protein, and low in saturated fat, trans fat, and cholesterol is essential for overall health, including for people with the MTHFR C677T mutation.

Effect on children when father is compound heterozygous c677t and 1298c

effect on children when father is compound heterozygous c677t and 1298c

The MTHFR C677T mutation can cause a variety of symptoms, but not all people with the mutation will experience the same symptoms or have the same level of severity. Some of the symptoms that may be related to the C677T mutation include:

Elevated levels of homocysteine: The C677T mutation can lead to reduced activity of the MTHFR enzyme, which can affect the metabolism of folate. This can lead to an accumulation of homocysteine in the blood, which is a known risk factor for cardiovascular disease.

Neural tube defects: Folate plays a crucial role in the development of the nervous system and the normal growth of the fetus during pregnancy, and the reduced activity of the MTHFR enzyme can increase the risk of neural tube defects in the offspring.

Blood clots: The C677T mutation can affect the coagulation and fibrinolytic systems, increasing the risk of blood clots in some people.

Depression, anxiety, and other mood disorders: The MTHFR enzyme is essential for the metabolism of neurotransmitters, which are chemicals in the brain that transmit signals between nerve cells. Reduced activity of the enzyme can affect the balance of neurotransmitters, leading to mood disorders.

Infertility or recurrent miscarriage: The C677T mutation can also lead to recurrent miscarriage or infertility.

It’s important to note that many other factors such as diet, lifestyle, and other genetic variations can also play a role in the symptoms related to the C677T mutation, and not all people with the mutation will develop these symptoms. A healthcare provider should be consulted to determine the relationship of the symptoms with the mutation and to recommend the appropriate course of action.

How common is combined mthfr a1298c and mthfr c677t?

The MTHFR C677T and A1298C mutations are common genetic variations that occur in the MTHFR gene. The MTHFR C677T mutation occurs in about 10-15% of the population, and the MTHFR A1298C mutation occurs in about 30-35% of the population.

The combined presence of both mutations (compound heterozygous) is less common, and the prevalence varies depending on the population. It is estimated that around 2-5% of the population may be compound heterozygous for the C677T and A1298C mutations.

It’s important to note that the prevalence of these mutations can vary depending on the population, and in some populations, the frequency may be higher or lower. Additionally, the risk of developing health problems associated with these mutations can vary depending on other genetic and environmental factors, and not everyone with the mutations will develop related health issues.

It’s important to consult with a genetic counselor or healthcare provider to determine the prevalence of the mutation in specific population and also to evaluate the potential implications of the mutations on health outcomes.

5 things to know about the MTHFR C677T variant and folic acid

MTHFR C677T variant is a genetic variation that occurs in the gene that codes for the methylenetetrahydrofolate reductase (MTHFR) enzyme. This enzyme is involved in the metabolism of folate, a B vitamin that is essential for many bodily processes, including the production of DNA and red blood cells.

The C677T variant leads to a reduced activity of the MTHFR enzyme, which can affect the body’s ability to use folate effectively. This activity can be further decreased by folic acid, the synthetic form of folate. Folic acid can lower the activity of the MTHFR enzyme further, leading to significant impairment, especially if the folic acid is taken in high doses.  This can increase the risk of certain health conditions such as cardiovascular disease, neural tube defects, and blood clots.

People with the C677T variant may have an increased need for dietary folate or folate supplements in the form of folinic acid or methylfolate. The folic acid form should be avoided entirely. This is because the reduced activity of the MTHFR enzyme can lead to an accumulation of homocysteine in the blood, which is a risk factor for cardiovascular disease.

Folic acid supplements are commonly recommended for people with symptoms of high homocysteine, repeat miscarriage, and other symptoms that can be related to MTHFR polymorphisms, but this is not a beneficial option for people with the C677T variant.  Research has shown that folic acid from enriched grains, fortified foods, and supplements can actually impair the activity of the MTHFR enzyme in people with the MTHFR polymorphism.  It is important for people with the C677T variant to work with a health care provider who has knowledge about the MTHFR polymorphism and who can guide their lifestyle and supplement routine in the right direction.

Folic acid is the synthetic, crystaline form of folate and is not a good choice for people with the MTHFR enzyme. Naturally occurring folate from food sources is beneficial for people with the MTHFR C677T variant and can be found in many foods such as leafy green vegetables, fruits, nuts, and  beans. Eating a diet high in folate-rich foods can help to ensure that the body has enough folate to meet its needs.

What is the significance of having a MTHFR C677T mutation?

The MTHFR C677T mutation is a genetic variation that occurs in the gene that codes for an enzyme called methylenetetrahydrofolate reductase (MTHFR). This enzyme is involved in the metabolism of folate, which is a B vitamin that is essential for many bodily processes, including the production of DNA and red blood cells.

Having the C677T mutation can lead to a reduced activity of the MTHFR enzyme, which decreases the body’s ability to activate and use folate effectively. This can increase the risk of certain health conditions such as cardiovascular disease, neural tube defects, and blood clots. Additionally, the C677T mutation can lead to an accumulation of homocysteine in the blood, which is a known risk factor for cardiovascular disease.

It’s important to note that not everyone with the C677T mutation will develop these conditions. The effect of this genetic variation on health outcomes is complex and many other factors such as diet, lifestyle, and other genetic variations, can also influence the risk. However, it is important to be aware of the presence of the mutation and take the necessary precautions.

If you have been told you have the MTHFR C677T mutation, it is advisable to consult with a healthcare provider or a genetic counselor to discuss the potential implications on your health and the options for managing the risks. Additionally, you may be recommended to follow a diet rich in natural folate and to avoid folic acid in fortified foods and supplements.  Your health care practitioner might also recommend supplements such as methylfolate, riboflavin, or SAMe that can help compensate for the reduced activity of the MTHFR enzyme.

How to treat homozygous c677t?

Treatment for homozygous C677T MTHFR mutation depends on the specific health condition or symptoms that are present. Here are some general recommendations that may be helpful:

 

Folate supplementation: People who are homozygous for the C677T mutation may have an increased need for dietary folates or MTHFR-appropriate folate supplements like folinic acid, methyl folate or 5-LMTHF. It is crucial to understand that folic acid from fortified foods and supplements is potentially harmful to people with the MTHFR polymorphism and reduces MTHFR activity. 

The reduced activity of the MTHFR enzyme can lead to an accumulation of homocysteine in the blood, which is a risk factor for cardiovascular disease. It is important to note that not all people with the variant need or will benefit from appropriate folate supplements, and they should be taken under the guidance of a healthcare provider.

 

Vitamin B12 and Vitamin B6 supplementation: These vitamins are needed to convert homocysteine into methionine and can help to lower homocysteine levels in the blood.

 

Trimethylglycine (TMG): TMG is also known as betaine, and it can also help to lower homocysteine levels in the blood.

 

Riboflavin: Vitamin B2, or riboflavin, is a necessary cofactor for the MTHFR enzyme and is as important as appropriate folate for MTHFR.

 

Magnesium: This mineral is essential for many bodily processes and can help to lower homocysteine levels in the blood.

 

Healthy diet: A diet that is high in fruits, vegetables, whole grains, and lean protein and low in saturated fat, trans fat, and cholesterol can help to reduce homocysteine levels in the blood.

 

Medications: Depending on the presence of specific symptoms or health conditions, medications may be prescribed to manage them. For example, anticoagulants may be prescribed to prevent blood clots and anti-depressants for depression and anxiety.

 

It’s important to consult with a healthcare provider or a genetic counselor before taking any supplements or medications, as they can interact with other medications or have other side effects. Additionally, they will be able to recommend the right dosage and duration of the supplement that is best for you.

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