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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

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Annonymous

What is ACAT Gene Mutation

  3 years, 10 months ago

ACAT Acetyl-Coenzyme A acetyltransferase AKA A bad Gut & Oxalates issues. This is Priority mutation # 2.

Although this mutation is fairly uncommon, it significantly impacts the Energy Cycle (citric acid cycle) and mitochondrial function. The influences are wide and far ranging and include bile salt production, cholesterol, fatty acids, and the processing of oxalates. Notwithstanding a partial or full defect, many have a “functional” variation due to the impact of aluminum, heavy metals, and toxins as well as other defects that impact this area such as the NOS, MTHFR, & CBS. Upon viewing the methylation community diagram, it is important to note that the energy cycle is closely connected to each sequence, yet it is intimately linked to both the waste cycle and SAM’s Corporation.

Since the energy cycle is essential for processing and converting all dietary nutrients (glucose, fats, proteins) into useable forms of energy, a breakdown anywhere down the line might trip an internal alarm. This is analogous to your car’s “low fuel” gauge. Just as any industry processes coal, gas, or oil for energy production, your body must have the essential nutrients in order to properly function. If you visualize the energy cycle as a clock, each hour represents an area in which one nutrient or substance converts into a more compatible form of energy. Depending on digestive function, diet, rate of absorption, and the presence of any genetic quirks, a problem might occur at any point within the device. This may lead to significant chemical imbalances within your body chemistry as well as mitochondrial dysfunction or disorders.

The ACAT plays a key role in creating bile salts, which is crucial for cholesterol and other membrane lipid balances. While we tend to view cholesterol and other fats as the “bad guys” in the war against disease, these compounds are critical for general health and wellbeing. Whether it’s the coating surrounding a nerve, cell, or organ, cholesterol is essential in its production. Think of your home’s electrical wiring and the thick, plastic or rubber coating normally found protecting it. An exposed wire is vulnerable and may “short out,” so that the impulse isn’t transmitted. Similarly, the body’s nervous system requires the protection afforded from a nice, thick fatty coating or fundamental connections may never be made. An exposed nerve may lead to a misfire, which is often the source behind the early symptoms found in neuroimmune disorders. This often includes signs such as tremors, muscle fasciculations, weakness, and fatigue as well as word groping and poor concentration and retention. Without cholesterol, you also cannot make several vital hormones, including, your sex hormones (estrogen & testosterone) or insulin. Therefore, low cholesterol levels are not as beneficial as one would initially think.

Finally, if a chronically ill person has had heavy aluminum or other toxic exposures along with a partially functioning ACAT, energy production is likely to stall to a near standstill. Moreover, as outlined in the energy cycle, other problems may include:
1. More B-12 depletion, which has ramifications throughout the entire system.
2. Cholesterol & fatty acid imbalances, often leading to toxic fatty acid buildup & high cholesterol.
3. Decreasing bile salts & increased taurine production as well as poor cell wall function since they all rely
on the proper breakdown of cholesterol through the ACAT.
4. Poor breakdown of fats, carbohydrates, & proteins to fuel other cells, nerves, tissue, & organs.
5. Rising oxalate levels that may cause painful urination and bladder & kidney stones.
6. Co Q-10 reduction, which is also necessary for mitochondrial function & energy.
7. Limited energy for the Waste Facility & SAM’s Corp. due to less conversion of methionine to SAMe. In
having over 400 methylation functions, SAMe is critical for the entire community.
As the energy factories of each cell, mitochondrial damage has significant implications. In fact, anything that demands more energy, including the gut and the brain, are particularly vulnerable. Significant blocks may limit the availability of bile salts; hence the digestive process is doubly burdened. This provides a valid reason for many unexplained digestive problems, while explaining poor growth & development as well as failure to thrive. Well-studied toxins such as aluminum, lead, mercury, and MSG also greatly impact this factory. This is one reason those with known mitochondrial disorders are discouraged from eating foods with pesticides, MSG, and aluminum. Ultimately, anyone with multiple risk factors is especially prone to mitochondrial dysfunction.

Labs:
Monitor for oxalates, high taurine, MMA, and/or methionine levels as well as low cholesterol.
Ethanolamine and the ... ..more

Annonymous

What is The Citric Acid Cycle ?

  3 years, 9 months ago

The Citric Acid Cycle AKA “The Power Company” is essential for processing and converting all dietary nutrients (vitamins, minerals, fats, amino acids) into useable forms of energy just as any power industry processes coal, gas, or oil for energy production. If you visualize this cycle as a clock, each hour represents an area in which one nutrient converts into a more compatible form of energy. Depending on digestive function, diet, rate of absorption, and the presence of any genetic quirks, a problem might occur at any point within this clock. This may lead to significant metabolic (chemical processing) imbalances within ... ..more

Annonymous

What is the Folate Cycle ?

  3 years, 9 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

Urine & stool changes throughout #detoxification . Oftentimes, the urine will change in color and/or clarity as you layer in important cofactors and #methyl groups. The following rules typically apply and if in doubt, obtain a UTM/UEE or fecal metals. Bear in mind that #cadmium precedes lead whereas #nickel often precedes #mercury. You may also see high cadmium levels due to the presence of #HPylori. Moreover, high viral #titers tend to coincide with the presence of heavy metals. Dr. Yasko has found that in some cases, the mercury and other metals were not eliminated (even with chelation therapy) until the ... ..more

Annonymous

How can I support my Liver

  3 years, 9 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?

  3 years, 9 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

From: http://www.stopthethyroidma...
"As explained well in the revised STTM book, which you should have on hand and bookmarked at the doctors office. The book is in English, Spanish, German and Swedish.

TSH: for diagnosis of hypopituitary, NOT to diagnose or dose your hypothyroidism (unless it’s high). If you allow a doctor to diagnose or dose you by this lab test and range i.e. to say you are normal simply because it’s in range or below 10…you’ll could still be hypothyroid.
Free #T4 and Free #T3 (note the word “free”–important since it measures ... ..more


It produces a defective MTHFR enzyme of different varieties i.e. it functions less than optimally, such as performing at only 40% of its capacity, or 70% of its capacity. It can mean you won’t break down toxins or heavy metals well i.e. you could find yourself with high iron, or high copper, or high mercury….etc. High copper can also cause low iron.
The defective enzyme doesn’t break down folate vitamins properly (of which folic acid is the precursor to), which can cause high homocysteine, which can increase your risk of coronary heart disease (arteriosclerotic vascular ... ..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


By Caledonia
1-21-2014

ME/CFS patients are notoriously very sensitive to medicines and supplements. It’s common to have adverse reactions, or to only be able to tolerate small doses.
Newbies are especially prone to taking too large of doses or going too fast. The following explains how to manage such sensitivity.

Start Low and Go Slow

Whenever you start a new medicine or supplement, it is suggested to practice Start Low and Go Slow.

This means starting with very small doses, much less than a normal dose, such as 1/8 of pill. That way, if you're going ... ..more

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Annonymous

What are Neurotransmitters

  3 years, 9 months ago

Perhaps the best way to think of neurotransmitters is with an automobile example. Most automobiles in the United States are made to cruise at 60-70 miles per hour, perfect for interstate highways and that summer vacation. If we place that same automobile on a racetrack and drive day-after-day at 130 mph, two things would happen:
1). Parts would fail and
2). We would run the engine so hot that we’d likely evaporate or burnout the oil.
In fact, neurotransmitters such as serotonin act as the brain’s “oil”.

Comparable to a normal automobile on a race track, when we ... ..more

Annonymous

What is an Excitotoxin ?

  3 years, 9 months ago

#Excitotoxins excite the nerve or brain cell to death.

MSG/Glutamates Please do not attempt to eliminate every last version of #MSG from your diet or you’ll be absolutely insane by the end of the month, it is much too difficult. Just be mindful that there are a lot of hidden ingredients everywhere If a restaurant says they have no MSG in their food, they are almost always referring to the fact that they don’t add MSG to their food but it comes in vats that way already. Also, there are loopholes so that food manufacturers may label ... ..more

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Annonymous

What does the COMT Gene Mutation mean?

  3 years, 10 months ago

What does it mean to "spare dopamine"? As mentioned in the above COMT discussion. Not use it? Not create it?  ..more

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

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

Annonymous

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

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