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What is MTHFR A1298C Gene Mutation ?

  3 years, 1 month 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


What is the Urea Cycle ?

  3 years, 4 months ago

The Urea Cycle filters & processes toxic waste. Makes nitric oxide to limit free radical injury & maintains open & clean blood vessels to protect the heart & brain.
#NitricOxide #UreaCycle #Methylation ..more


What is the Methionine Cycle ?

  3 years, 4 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


What does Methylation do?

  3 years, 4 months ago

The Major Tasks of Methylation
In order to provide a brief overview, the following methylation tasks have been vastly streamlined. In reality, there is an endless array of both direct and indirect Methylation activities within the human body. Even so, this summary should provide greater understanding of this highly complex pathway, as well as the complications that can arise from various defects or toxic exposures.

Methylation is responsible for the following:
1. Nervous system function (brain, spinal cord, & nerve cells). It’s critical for the insulation around nerves (myelin), which allows signals to properly transmit via this sheath, or outer ... ..more

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


What does a CBS Gene Mutation mean ?

  3 years, 4 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

Evaluating the nervous system’s style or “dominance” is a key factor in the initial process i.e dopamine or seratonin dominance. This will allow for a more targeted regimen, based on your individual needs. This is why consulting with your Doctor is pivotal.

1. Slowly adding basic supplements & support: general minerals, vitamin B’s & B-12, digestive enzymes, probiotics, antioxidants, essential fatty acids, etc.

2. Gut Health is critical. Since most chronically ill adults & children have at least 1-2 (if not 3-4!) enzyme defects that affect the gut and digestion, the gut is always a factor. Gut bugs tend to ... ..more


What is a CBS C699T Gene Mutation ?

  3 years, 4 months ago

CBS C699T cystathionine beta synthase AKA The Hole in the Bucket. This Priority # 3 Mutation
Tip! It is crucial to address any gut issues before you thoroughly address the CBS defect. Since chronic gut issues lead to higher bacterial loads, thus leading to higher ammonia production as well as leaky gut (reducing nutrient absorption and increased risk for food sensitivity) this area is paramount. You can begin to address the CBS prior to fully addressing gut issues though they should be done in concert. Since the CBS is one of the most important issues to address, I’ve decided to ... ..more


What is the impact of a CBS Mutation ?

  3 years, 4 months ago

SUOX Sulfite oxidase AKA Sulfites to Sulfate Priority # 4 Mutation
This is the enzyme that converts sulfites to a less toxic form as sulfate and is heavily impacted by mercury.
This is a very strategic defect that converts less toxic sulfites to sulfates through the CBS region, AKA, transsulfuration. However, having MTR/MTRR defects will affect this enzyme so that it can have what we call a “functional defect”. This means that it isn’t actually defective but because it isn’t getting what it needs, it becomes faulty and doesn’t process nearly as well. Anyone who reacts to ... ..more