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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

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

Summary of analogies used in methylation community: CEOs: Directs each corporation in organized steps
Supervisors: Enzymes such as MTHFRs, COMT, SHMT, and BHMT
Enzymes are proteins that are produced by living cells and regulate the body’s process to breakdown products, such as ammonia.
Employees: Chemicals, proteins, DNA, etc.
Work tags: Methyl groups (Homocysteine, SAM, Methionine) The Chain Gang: Homocysteine (HCY)
Synopsis of the Cycles
1). Power Plant = Citric Acid Cycle =
Formerly known as the Kreb’s cycle) Recognized as the mitochondrial or energy cycle
2). Garbage Dump (& Recycling) =
The urea cycle, ammonia cleanup & nitric oxide production (heart/blood vessel protection)
3). Better Health 4 Life Corp (BH4) = Communications “AT&T” & toxic waste cleanup Neurotalkers: Dopamine, Serotonin, & Norepi

4). SAM’s Corp. = Methionine Cycle =
The major producer of methyl donors and the passageway to the garbage dump (NOS) & liver via the CBS enzyme
5). Farmer Folate = Folate Cycle =
Homegrown” RNA & DNA, methyl groups and Homocysteine (HCY) regulation

The Meaning of Methylation
Methylation is truly a multi-tasking marvel that allows us to be “healthy and human.” Though this highly intricate process occurs within each cell as well as in the fluid supplying the brain and within the liver, it is responsible for the most vital undertakings throughout body chemistry. Methylation determines who we are, what we look like, and how we behave and it is central to our physical, emotional, and mental wellbeing. Without methylation, we could not survive; hence, it is the perfect pathway to focus on for understanding autoimmune ... ..more


What is the Folate Cycle ?

  3 years, 4 months ago

The Folate Cycle Produces organic, homegrown RNA & DNA. Converts folate into usable forms to keep HCY* in check & sends on to SAM’s for more work tags. *HCY/Homocysteine

The Folate Cycle is the “Organic Farming Region” where everything is homegrown. This Region grows “organic” work tags (methyl groups) and is instrumental in the front-line production of new RNA and DNA. Still, this plantation is a bit old fashioned, employing a chain gang (homocysteine) to help them get the work done. Though rarely considered in everyday life, RNA & DNA are essential to making you unique, as well as directing health ... ..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


How can I support my Liver

  3 years, 4 months ago

Lab Tests indicating a need for #Liver Support:
Elevated AST (SGOT)
Elevated ALT (SGPT)
Elevated alkaline phosphatase (ALP)
Elevated lactate dehydrogenase (LDH)
Elevated billirubin
Elevated #cholesterol
Elevated triglycerides
Long term chelation with sulfur based chelating agents
High level excretion of toxic metals on fecal tests

#Supplement for Liver Health:
Organ/Liver Support Formula RNA
MTHFR A1298C+/Liver Support BH4 Compounded Supplement
Ultimate B Complex
Cod Liver Oil -CLO
Shark Liver Oil - Norwegian Shark Liver Oil
#Quercetin 500 Plus

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, 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

These are the ultimate “bad guys” that roam from place to place stealing every cell’s positive energy and leaving them for dead. How are these criminals produced? Though there are many contributing factors, the Urea Cycle
( waste facility ) is by far, the largest free radical and oxidant producer in the community. Remember the waste facility aka #urea cycle is responsible for cleaning up most of the toxic waste generated within the community. Think of this cycle as your local garbage dump replete with trucks transporting recyclables and trash via the liver’s main highway ( #CBS ). In the Waste Facility ... ..more

The major problem with unnatural synthetic FOLIC ACID is that when there is more #FolicAcid floating around in the blood stream than the real thing…L-Methyl Folate, then the excess Folic ACID can get stuck in the Folate Receptor Alpha [ #FRa ] receptor sites on the Blood Brain Barrier [BBB].

How the “FOLATE CYCLE” connects to the “ #BH4 TetraHydroBiopterine CYCLE” and how this influences the making of Neurotransmitters: #Melatonin, #Dopamine, #Norepinepherine and #Epinephrine [ #Adrenalin ].

Folic ACID completely blocks up the FRa receptor site on the BBB and the entire complex then has to be completely broken down to be recycled.
ONLY ... ..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

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Elevated AST (SGOT)
Elevated ALT (SGPT)
Elevated alkaline phosphatase (ALP)
Elevated lactate dehydrogenase (LDH)
Elevated #billirubin
Elevated #cholesterol
Elevated triglycerides
Long term chelation with #sulfur based chelating agents
High level excretion of toxic #metals on #fecal tests

b) Supports for Liver Health:
Organ/Liver Support Formula RNA
#MTHFR A1298C+/Liver Support BH4 Compounded Supplement
Ultimate B Complex
Cod Liver Oil -CLO
Shark Liver Oil - Norwegian Shark Liver Oil
#SAM-e (Low dose in Ultimate B, ACAT/BHMT, MethylMax, MethylMate, and UltiFend)
Rosemary (In NaturoMycin Spray, MethylMax, VDR FOK, UltiFend and Vita D-Light Spray)
#Quercetin 500 Plus (In UltiFend and ... ..more

MAO-A (Monoamine oxidase A) is a critical enzyme involved in breaking down important neurotransmitters such as serotonin, norepinephrine, and dopamine. While a homozygous (+/+) mutation is very common, prolonged periods of stress, violence, or trauma can lead to epigenetic changes that further decrease enzyme activity. On the table above, males only have one allele since the gene is inherited through from their mother since it is located on the X chromosome.
Males are more likely to have this mutation, represented on the table as homozygous (+). Only females can be heterozygous (+/-) for this mutation.

When a (+/+) MAO-A mutation is combined with a ... ..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

What does this process look like when it’s broken? After reading the following, you will be able to envision the implications of defects or mutations. The following is an example of the health problems that might occur.
1. Poor nerve function leads to muscle twitching, numbness, and weakness yet misfires can cause seizures, fatigue, memory loss, word groping, clumsiness (with falls & injuries), and visual or hearing loss in those with MS, CFS/ME, or Autism Spectrum Disorders.

2. Depending on the neuro-talker, imbalances often lead to a variety of disorders including: depression, anxiety, panic attacks, irritability, mood swings, OCD ... ..more

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#CBS #NOS Gene Mutation
• Flapping or hand tremors
• Dark circles under eyes
• Disorientation, and brain fog
• Hyperactive reflexes
• NMDA receptor activation, leading to glutamate excitotoxicity
• Tremor of the hands
• Paranoia, panic attacks
• Memory loss
• Headaches
• Irritability
• Hyperventilation (often associated with decreased Carbon dioxide/CO2)
• Central nervous system toxicity
• Dementia
• Seizures

How to reduce Ammonia levels:
The following examples assist in balancing this toxic waste
• Yucca with meals/protein snacks
• Charcoal flush (only 1-2 x week) after last meal of the day (typically 9-10PM)
• CBS/NOS Caps
• MTHFR A1298C Caps (L-Biopterrin increases BH4 levels and the milk thistle also provides ammonia ... ..more