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Q:  What is MTHFR? What is A1298C ? What is C677T ?

ag5zfnJlc291cmNlLXFuYXITCxIGQW5zd2VyGICAgICYn5QKDA MTHFR Question: What is MTHFR? What is A1298C ? What is C677T ? Answer: Methylenetetrahydrofolate reductase (MTHFR) supports one's health, well-being and detoxification and can be defective in a fairly large percentage of our population. About 45% of Caucasians, 70% of Hispanics and about 30% of southern Italians have a genetic defect. The MTHFR gene produces the MTHFR enzyme. This enzyme is responsible for the circulating form of folate. Folate is very important in homocysteine regulation. The MTHFR enzyme metabolizes folic acid into 5-MTHF, which is needed to combine with homocysteine to break it down and to facilitate methylation (detoxification) processes in the body. The MTHFR enzyme is essential for the body to function properly and affects more than 20 different processes. Having a MTHFR mutation means that the enzyme that converts folic acid into it’s activated form (5-MTHF) acts in a less than normal capacity. The more genetic mutations one has, the less the MTHFR enzyme acts in a complex process that produces glutathione at the end of the cycle. Glutathione is the body's number one antioxidant. A defective MTHFR enzyme in the different varieties means that detoxification function is less than optimal. It can be performing 20% reduced capacity, or loose as much 80% of its capacity in some cases. It can mean that you just don’t break down toxins well. About The A1298C Mutation The A1298C mutation is relatively common but it is NOT associated with elevated homocysteine levels like the C677T mutation. For the A1298C mutation A homozygous gene for A1298C (2 copies, one from each parent) results in about a 60% reduction in methylation from normal activity. A heterozygous gene for A1298C (1 copies, from one parent) results in about a 30% reduction in methylation from normal activity. The A1298C mutation may cause a decrease in neurotransmitters or catecholamines including serotonin, melatonin, dopamine, norepinephrine, and epinephrine. The A1298C mutation is also a cofactor in the production of nitric oxide. Supplementing with L-Methylfolate can help alleviate the effects of MTHFR A1298C as well as lower the homocysteine levels. Avoiding all synthetic folic acid and folic acid fortified foods such as cereals and all white flour enriched products is also strongly recommended. Removing other types of synthetic folic acid from any supplements is strongly recommended, as they can compete with L-methylfolate. About The C677T Mutation The C677T mutation can cause elevated homocysteine levels in individuals with insufficient folate, particularly when there are two gene mutations (one from each parent) present. For the C677T mutation, one gene copy (heterozygous) means an estimated 40% loss of function, 2 copies (homozygous) means an estimated 70% loss of function. One function of the MTHFR enzyme is to help convert homocysteine to methionine. A MTHFR C677T mutation means that the MTHFR enzyme may have trouble performing its task leading to high levels of homocysteine. According to Dr. Ben Lynch, impaired function of the enzyme can cause or contribute to conditions such as Autism, Chronic Fatigue Syndrome, Fibromyalgia, Miscarriages, IBS, many birth defects, Multiple Sclerosis, Alzheimer's, Bipolar Disorder, blood clots, Stroke, Chemical Sensitivity, and many other conditions. High blood levels of homocysteine are also a risk factor for cerebrovascular disease, cerebral vein thrombosis, coronary artery disease, myocardial infarction and venous thrombosis. MTHFR C677T can also lead to high homocysteine. You can ask your doctor to test for homocysteine levels. If you have high levels of homocysteine, it may be related to your MTHFR C677T mutation. But it does not necessarily mean that they will have high homocysteine levels. High homocysteine levels cannot rely only on genetic testing but also need to take into consideration clinical findings such as serum homocysteine levels. The levels of homocysteine in the serum are influenced by both genetic and environmental factors. The C677T variation results in the MTHFR enzyme being about 20% less efficient in metabolizing homocysteine, thus increasing serum levels, especially when plasma folate levels are at the lower end of normal. About 5% of Caucasians and 1.4% of African-Americans are C677T homozygotes (2 copies of this gene,) and are likely to have elevated serum homocysteine levels. Supplementing with L-Methylfolate can help alleviate the effects of MTHFR C677T as well as lower the homocysteine levels. Supplementing with L-Methylfolate can help alleviate the effects of MTHFR C677T as well as lower the homocysteine levels. Avoiding all synthetic folic acid and folic acid fortified foods such as cereals and all white flour enriched products is also strongly recommended. Removing other types of synthetic folic acid from any supplements is strongly recommended, as they can compete with L-methylfolate. http://resqua.com/702188759/what-is-mthfr-what-is-a1298c-what-is-c677t

Methylenetetrahydrofolate reductase (MTHFR) supports one's health, well-being and detoxification and can be defective in a fairly large percentage of our population. About 45% of Caucasians, 70% of Hispanics and about 30% of southern Italians have a genetic defect.

The MTHFR gene produces the MTHFR enzyme. This enzyme is responsible for the circulating form of folate. Folate is very important in homocysteine regulation. The MTHFR enzyme metabolizes folic acid into 5-MTHF, which is needed to combine with homocysteine to break it down and to facilitate methylation (detoxification) processes in the body. The MTHFR enzyme is essential for the body to function properly and affects more than 20 different processes. Having a MTHFR mutation means that the enzyme that converts folic acid into it’s activated form (5-MTHF) acts in a less than normal capacity.

The more genetic mutations one has, the less the MTHFR enzyme acts in a complex process that produces glutathione at the end of the cycle. Glutathione is the body's number one antioxidant. A defective MTHFR enzyme in the different varieties means that detoxification function is less than optimal. It can be performing 20% reduced capacity, or loose as much 80% of its capacity in some cases. It can mean that you just don’t break down toxins well.

About The A1298C Mutation
The A1298C mutation is relatively common but it is NOT associated with elevated homocysteine levels like the C677T mutation.

For the A1298C mutation

A homozygous gene for A1298C (2 copies, one from each parent) results in about a 60% reduction in methylation from normal activity.
A heterozygous gene for A1298C (1 copies, from one parent) results in about a 30% reduction in methylation from normal activity.
The A1298C mutation may cause a decrease in neurotransmitters or catecholamines including serotonin, melatonin, dopamine, norepinephrine, and epinephrine.

The A1298C mutation is also a cofactor in the production of nitric oxide.
Supplementing with L-Methylfolate can help alleviate the effects of MTHFR A1298C as well as lower the homocysteine levels.
Avoiding all synthetic folic acid and folic acid fortified foods such as cereals and all white flour enriched products is also strongly recommended.
Removing other types of synthetic folic acid from any supplements is strongly recommended, as they can compete with L-methylfolate.
About The C677T Mutation
The C677T mutation can cause elevated homocysteine levels in individuals with insufficient folate, particularly when there are two gene mutations (one from each parent) present.

For the C677T mutation, one gene copy (heterozygous) means an estimated 40% loss of function, 2 copies (homozygous) means an estimated 70% loss of function.

One function of the MTHFR enzyme is to help convert homocysteine to methionine. A MTHFR C677T mutation means that the MTHFR enzyme may have trouble performing its task leading to high levels of homocysteine.
According to Dr. Ben Lynch, impaired function of the enzyme can cause or contribute to conditions such as Autism, Chronic Fatigue Syndrome, Fibromyalgia, Miscarriages, IBS, many birth defects, Multiple Sclerosis, Alzheimer's, Bipolar Disorder, blood clots, Stroke, Chemical Sensitivity, and many other conditions.

High blood levels of homocysteine are also a risk factor for cerebrovascular disease, cerebral vein thrombosis, coronary artery disease, myocardial infarction and venous thrombosis.
MTHFR C677T can also lead to high homocysteine. You can ask your doctor to test for homocysteine levels. If you have high levels of homocysteine, it may be related to your MTHFR C677T mutation. But it does not necessarily mean that they will have high homocysteine levels.
High homocysteine levels cannot rely only on genetic testing but also need to take into consideration clinical findings such as serum homocysteine levels.
The levels of homocysteine in the serum are influenced by both genetic and environmental factors.
The C677T variation results in the MTHFR enzyme being about 20% less efficient in metabolizing homocysteine, thus increasing serum levels, especially when plasma folate levels are at the lower end of normal.
About 5% of Caucasians and 1.4% of African-Americans are C677T homozygotes (2 copies of this gene,) and are likely to have elevated serum homocysteine levels.
Supplementing with L-Methylfolate can help alleviate the effects of MTHFR C677T as well as lower the homocysteine levels.
Supplementing with L-Methylfolate can help alleviate the effects of MTHFR C677T as well as lower the homocysteine levels.
Avoiding all synthetic folic acid and folic acid fortified foods such as cereals and all white flour enriched products is also strongly recommended.
Removing other types of synthetic folic acid from any supplements is strongly recommended, as they can compete with L-methylfolate.

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