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MTHFR C677T and A1298C…how they don't work correctly By Carol Savage

MTHFR C677T...METHYLATION CYCLE...Epigenetics [SAMe and methylation of our DNA]

The MTHFR C677T snps causes the enzyme to be unable to utilize the cofactor FAD/FADH2 properly. The snp mistake [C677T] causes the enzyme to be temperature labile. As a result, the cofactor FAD disengages and subsequently L-Methyl Folate [5-MTHF] cannot be made. So, MTHFR C677T interferes with the forward action of the MTHFR enzyme and subsequently interferes with the conversion of Homocysteine into Methionine and the making of SAMe.

L-Methyl Folate is most beneficial to ... ..more

MTHFR and L-METHYL FOLATE… Some Basic Information By Carol Savage M.D.

If you have the MTHFR Gene Mutations C677T and or A1298C and are already taking some L-Methyl Folate [5-MTHF] and Vitamin B12 you might also consider the following:

FOOD Eat plenty of Green Vegetables and beans to get some Dihydrofolate [DHF] and Vitamin B2 [Riboflavin] and many other naturally occurring minerals and vitamins that the body needs etc.

DIHYDROFOLATE [DHF] Dihydrofolate is needed to provide the earlier FOLATE PATHWAYS [the reactions that occur prior to the MTHFR enzyme] with the kinds of folates that they need in order ... ..more


What is MTHFR A1298C Gene Mutation ?

  3 years, 6 months ago

By Helen Janneson Bense

A1298C single nucleotide polymorphism (SNP) affects the enzyme known as 5,10 MethyleneTetraHydroFolate Reductase (MTHFR). This polymorphism involves a down regulation of the MTHFR enzyme, responsible for the backwards reaction of the folate cycle, where 5-methylfolate (5MTHF) is converted into tetrahydrofolate (THF). This reaction is most important for the production of BH4 – tetrahydrobiopterin. Each turn of the folate cycle and conversion of 5MTHF to THF produces 1 molecule of BH4. In heterozygous and homozygous states, enzyme activity will be compromised by
approximately 30% and 70% respectively.

Functions of BH4
Cofactor for all three isotypes of nitric ... ..more

I found this excellent description in Amy Yasko's forum: It was posted by one of the members on the site- raji: http://www.ch3nutrigenomics...
This is a private blog, but it is a very rich source of information about methylation, nutrigenomics and dietary supplementation

Here is a copy of the post:

"Common Terminology:

Methyl group: A methyl group is simply a single carbon atom bonded to 3 hydrogen atoms (CH3).

Methylation: Transfer of methyl groups from one chemical to another is called methylation. Essentially any chemical compound that has a methyl group as part of its chemical ... ..more

COMT, GAD, MAOA/B and addressing methylation too soon can definitely cause neuro-psych issues, but it all comes back to methyl pooling. SNPs in these genes can also contribute: ACE, DAO, MTHFR (e.g., A1298C). Homozygous or 'AA' results for COMT V158M is particularly associated with anxiety & startle response. Quite a few SNPs & quite a few medical conditions can contribute to anxiety, of course (e.g., gut health & bacteria resulting in toxin exposure).

For brain fog / concentration issues, follow up on SNPs affecting ammonia (such as NOS gene, etc.) & BH4 levels (DHPR gene, etc.), also.

With anxiety as a chief ... ..more

Lab Tests indicating a need to address Bacterial Imbalances:
History of chronic #ear infections
Maternal history of #Streptococcal infection
History of bacterial #pneumonia
Streptococcus, E coli on #CSA / #GI Profile
Other #bacterial #pathogens on CSA/GI Profile
Elevated kynurenic on #OAT / #Metabolic Test, CONFIRM with CSA/GI Profile
Elevated quinolinic on OAT/Metabolic Test, CONFIRM with CSA/GI Profile
Low gut #pH or high gut pH
High suberic on a #MAP or #OAT
High DHPPA on a MAP or OAT

#Supplements to balance / repopulate GI tract/ decrease E.coli and Strep:
Bowel Support Formula RNA
Special digestive enzymes
VDR Fok ... ..more

1. Start eating 'clean'. Organic, non-GMO home made meals should become a priority. Eliminating #gluten and dairy to relieve your body from the burden of processing them should also begin.

2. Avoid taking any extra Folic Acid. There is already a lot of it in the nation's food supply, as it is added to [fortified] to many processed foods. If a person has the #MTHFR mutations then #L-Methyl Folate is the better choice. Choose this #supplement carefully.
Folic Acid will get turned into #Dihydrofolate and will be all gone, except for any more you may eat due to ... ..more

There is little known about the A1298C MTHFR mutation. Or so it seems.
Research seems to ignore it almost completely while the C677T MTHFR mutation gets all the attention and glory.
For those who have the A1298C MTHFR mutation, this is frustrating.
Symptoms exist and doctors are saying there is no correlation between the MTHFR A1298C mutation and your symptoms – right?

I’d like to prove them wrong – at least for the symptoms which do correlate with the A1298C MTHFR mutation.

The MTHFR A1298C mutation may affect you if you are either:
--Homozygous A1298C MTHFR mutation
--Compound heterozgous A1298C + C677T ... ..more


What is the Methionine Cycle ?

  3 years, 9 months ago

The Methionine Cycle is the major work tag (methyl donor) manufacturer. SAMe has over 400 functions in the community. Also serves as the main route through to liver & Waste cycle.

Methionine (SAM) Cycle AKA “SAM’s Corporation,” As SAMe has over 400 known methylation reactions, SAM’s Corporation is the chief work tag producer. It’s also where most of the action occurs since it contains the major thoroughfare to the liver (CBS & transsulfuration). While this often works to its’ advantage, it can also pose a safety risk since failure along this route may result in calamity (see Waste Facility ... ..more

Folic ACID will get turned into Dihydrofolate and will be all gone... except for any more you may eat due to eating many fortified cereals and bread products.

A little Folic ACID will not be a problem. The problems occur when the amount of Folic ACID outweighs the availability of L-Methyl Folate regarding the BRAIN since Folic ACID blocks up the #L-Methyl Folate [ #5-MTHF ] #Folate Receptor Alpha receptors and prevents the real thing [5-MTHF] from getting into the brain.

The rest of the body doesn't suffer from too much #Folic ACID....only the brain.
Folic ACID is synthetic ... ..more

#Parasites are difficult to detect on tests
Try using a CSA/GI Profile

Supports to address/balance Parasites:
Naturomycin Spray and caps
#MTHFR A1298C caps
#Supplements ..more

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STEP ONE: Layering in The Foundation
Knowing your Nervous system #dominance is an integral part in establishing the treatment process.
A). Remove or limit triggers:
Processed foods contain excitotoxins, dyes, and #toxic preservatives. It is also crucial to remove obvious food #allergies . Please see Resqua pages on #excitotoxins for more information. This is simply defined and discussed in detail. 

B). Begin general support:
Provide a good foundation for your nervous system type and begin nutritional support. Though life threatening reactions would be extremely rare (and to my knowledge, unheard of), moving too quickly can result in more intense symptoms of ... ..more

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 ... ..more

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This means you have one mutation for the 1298C gene. You get one gene from each parent. If you are homozygous (+/+) for 1298A it means you got it from both parents.

From Carol Savage M.D.
Having just one copy of MTHFR A1298C is perhaps the most controversial of all the SNPs.
I have found a few sources that report that the A1298C may interfere with the reverse direction of the MTHFR enzyme and therefore affects the folate cycle more so than the Methylation Cycle.

In any case it is always better to just have one copy of a mutation ... ..more



  3 years, 10 months ago

MTHFR is a a key enzyme necessary for the metabolism of folate, an important B vitamin. In other words, MTHFR most often refers to a genetic mutation that affects our ability to methylate or convert folic acid from the food we eat, or supplements we take into Methylfolate (L-MTHF). L-MTHF is referred to as the "active" or usable form of folate that is required by our cells. Since our body's cells cannot utilize folic acid, it must go through a metabolic pathway or 4-step process to become converted into Methylfolate (L-MTHF) so our cells can use it. It is ... ..more


What does a CBS Gene Mutation mean ?

  3 years, 10 months ago

CBS (cystathionine beta synthase) catalyzes the first step of the transsulfuration pathway, from homocysteine to cystathionine. Dr. Yasko considers addressing CBS mutations as first priority aside from addressing the gut.
This enzyme converts homocysteine to cystathionine. In a separate reaction, cystathionine is then converted to cysteine which in turn goes to taurine or glutathione among other things.

CBS defects are actually upregulations. This means the enzyme works too fast. Therefore, it is common to see low levels of cystathionine and homocysteine since there is a rapid conversion to taurine. This leads to high levels of taurine and ammonia.

The upregulation ... ..more