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

Annonymous

What is MTHFR A1298C Gene Mutation ?

  4 years, 2 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: ch3nutrigenomics.com. 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

Annonymous

What is Spirulina

  4 years, 5 months ago

#Spirulina provides the raw materials [amino acids] for #DNA and #RNA repair. Spirulina is a rich source of B6 and Folate [B9]. Spirulina also contains #antioxidant phytonutrients called anthocyanins. #Anthocyanins are powerful #anticarcinogenics .

Spirulina has strong anti-microbial effects that help create a proper balance among the #gut flora. Spirulina is helpful in the gut because it helps to controlling the growth of pathogenic [Bad] #bacteria and #yeasts in the digestive system. A proper healthy balance of gut flora is critical for optimal digestion and nutritional absorption. Keeping the gut flora healthy and properly balanced is an important part of #detoxification ... ..more

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Annonymous

What can be done to increase Calcium ?

  4 years, 5 months ago

Lab Tests indicating a need to increase #Calcium:
#Calcium below the range of low end normal on a urine essential test
Calcium below the range of low end normal on a RBC element test
High level excretion of #lead should check urine calcium levels

Supplements to increase Calcium:
Bone Support Formula RNA
MitoForce Compounded Supplement
CoEnzyme Q10 Fatigue & Muscle Support Spray
GSH Capsules
Nettle
#Chamomile
#Chervil
Cal/Mag/VitD/VitK -Calcium & Magnesium Citrates
Don Quai - Max V
Black Cohosh
#Prevagen 5mg or less
 ..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


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

Annonymous

What is the Folate Cycle ?

  4 years, 5 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

Annonymous

How can I support my Liver

  4 years, 5 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
Folazin
Cod Liver Oil -CLO
Shark Liver Oil - Norwegian Shark Liver Oil
#SAM-e
Rosemary
#Quercetin 500 Plus
 ..more

Annonymous

What does Methylation do?

  4 years, 5 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

Elevated BUN
Urine excretion/detox of metals for prolonged periods

Supports for Kidney Health:
Kidney Support Formula RNA
CBS/NOS Compounded Supplement
#Cranberry Caps (In UltiFend and NaturoMycin Spray & Caps)
#Cranberry Juice -Sweeten with Xylitol or Super Stevia
Curbita Bladder Caps (In NaturoMycin Caps)
#SAM-e (Low dose in Ultimate B, ACAT/BHMT, MethylMax, MethylMate A, and UltiFend)
#ATP -20 (In MitoForce and MTR/MTRR/SUOX)
 ..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
Folazin
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

Lab Tests indicating a need to address #Yeast Imbalances:
Elevated arabinose on OAT/Metabolic test, CONFIRM with CSA/GI Profile
Presence of yeast on CSA/GI Profile
Low gut #pH , CONFIRM with CSA/GI Profile

#Supplements to balance / repopulate GI tract/ decrease yeast:
Rotate #probiotics (one each day of the week):
_ Florastor
_ Lactobacillus Plantarum
_ Lactobacillus Reuteri ( Gut Health or Probiotic drops)
_ Suprema Dophilus
_ Allerdophilus
_ FloraElite
_ Nutriclean probiotics
Candisol
IMF 7 (Immunfactor #7)
Lactoferrin
Nautromycin Spray
Naturomycin Caps
Bactisolve
Stomach pH Balancing Formula RNA
CCK Support RNA
Mycology Support Formula RNA
Buffer pH supplement ..more

Elevated arabinose on OAT/Metabolic test, CONFIRM with CSA/GI Profile
Presence of yeast on CSA/GI Profile
Low gut pH, CONFIRM with CSA/GI Profile

Supports to balance / repopulate GI tract/ decrease yeast:
Rotate probiotics (one each day of the week):
_ #Florastor
_ #Lactobacillus #Plantarum
_ Lactobacillus #Reuteri ( Gut Health or Probiotic drops)
_ Suprema Dophilus
_ Allerdophilus
_ FloraElite
_ #Nutriclean #probiotics
#Candisol
IMF 7 (Immunfactor #7)
Lactoferrin
Nautromycin Spray
Naturomycin Caps
Bactisolve
Stomach pH Balancing Formula RNA
CCK Support RNA
Mycology Support Formula RNA
Buffer pH #supplement
#Yeast ..more

Annonymous

What does a CBS Gene Mutation mean ?

  4 years, 6 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

#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