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Annonymous

What is MTHFR A1298C Gene Mutation ?

  4 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: 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

Wow. What a thread! My serum B6 was a bit over ref range. My OAT showed it to be low. So my doctor thinks I'm not processing or absorbing it. She started me on P5P, but I have to spread my 33 mg of it throughout the day, or else I get jitters and tingly extremities. I'm not sure my OAT was interpreted optimally. My mag RBC was 5.5 before I recently increased supplementation. I know I have some kind of source of lack with zinc, because starting that cured my chronic insomnia. I have brain inflammation ... ..more

The recommendations to work on CBS is b6 active form p5p and molybdenum to balance copper and zinc and help break down excess sulfates. You can get some sulfate strips these ones http://www.amazon.com/gp/aw.... You want to get your urine sulfates down to at least 800 preferably 400 before adding in methylfolate and methylb12. ..more

#Parasympathetic Nervous System “Rest, repair, & digest” or “Type B’s” There are 3 basic #PNS Dominant subtypes: Basic, Extreme, & Inefficient PNS Dominant types.
The following is a summary of the average PNS Dominant type. 
 The parasympathetic nervous system (PNS) works to nourish, heal and regenerate the body. It is anabolic, which means it is concerned with rebuilding the body and storing nutrients. Its’ nerves stimulate the immune system, digestion, and urinary function. These organs include the liver, pancreas, stomach, intestines, kidneys, and bladder.

The parasympathetic nervous system, when activated by rest, relaxation and positive thinking, is essential for the elimination of wastes, emotional wellbeing and healing. When you feel absolutely stuffed and lethargic after a big Thanksgiving dinner, it is your PNS that is most active. 
 
In situations in which we have excessive parasympathetic nervous system dominance, we often find #disorganization , #depression , #apathy , and #lethargy . There may also be a decrease in clarity of thought such as “spaciness” or poor concentration. The #adrenal and #thyroid glands tend to be underactive and sex #hormones such as #estrogen , #progesterone , and #testosterone are abnormally low. There are frequently issues with multiple #allergies and sensitivities #MCS , dry skin, weight gain or a tendency toward #obesity . These are generally the people who go on the same exact “Healthy” diet as their friends or partner yet struggle to lose a few pounds. Meanwhile, everyone one else has lost 10-20 lbs and is back to their regular routine. 



Other signs and symptoms include: frequent hunger, dry/irritated eyes, unexplained sneezing or coughing, #asthma , dizziness (particularly with standing), irregular heart beats or “skipped heart beats”, low blood pressure, and #hypoglycemia as well as increased production of all digestive enzymes and bowel activity, leading to more “stomach rumbling”. #PNS Dominants rarely struggle with #constipation and may have periods of loose or frequent stools. They are also more likely to experience the feeling of being “Tired yet wired,” particularly after eating a simple carbohydrate or sugary snack.

While #SNS Dominants may also struggle with this tired yet wired sensation, it is usually more prominent in PNS Dominance. Incidentally, those who cannot tolerate higher altitudes or the more rapid drops in barometric pressure (weather changes) are more likely the PNS Dominant or “Inefficient Balanced” types as a stronger SNS is required in adjusting to higher altitudes and changing weather patterns. These are the folks who know the weather is going to change before anyone else and often suffer with allergies or headaches. They are also prone to upper #respiratory infections, which may evolve to #bronchitis or #pneumonia . Despite this, they do not tolerate hot weather as well as the other types and prefer colder climates. They are also prone to flushing and may have pinker or darker ears and a “ruddy” complexion.

Nevertheless, when these individuals are well, they can be highly creative and productive and are often slow to anger. They tend to have less interest in “left brain” academics (math or science) and often prefer “right brain” academics (art, music, & lit).

According to Dr. Gonzalez, many Nobel Prize winners in art and literature are PNS Dominants (Hemmingway, Faulkner, & Lewis). PNS Dominants typically avoid confrontational professions and enjoy those, which allow their heightened creative abilities to flourish. And, depending upon where they reside within the PNS axis, many are “foodies” who live to eat rather than simply eating to live, as SNS types tend to do. These folks typically enjoy discussing good restaurants or engaging in discussions about great meals and recipes. They typically gravitate toward meat & potatoes with some veggies usually the root (potatoes, squash, yams) or cruciferous veggies (broccoli, cauliflower, Brussel Sprouts, cabbage). In general, PNS Dominants are more sociable than SNS types. Likewise, they may prefer to remain busy yet tend to avoid exercise. Still, #genetic factors also considerably influence many of these traits.


Finally, PNS Dominants are most likely to develop immune related cancers such as malignant #melanoma , #lymphoma , #sarcoma , and #leukemia . 
 
Food priorities: It is generally helpful to evaluate the foods you crave and how you tolerate each newly introduced food. For instance, after eating meat do you feel better and more clearheaded or are you more anxious, jittery, or depressed? If you’re having a lot of digestive issues, you may want to begin with mostly cooked foods, at least to some degree, in order to reduce the strain on your digestive system. Therefore, it is important to consider whether or not you tolerate raw vs. cooked foods. Those with PNS Dominance favor butter, cream, meat, and potatoes as well as sour flavors. Yet they avoid sweets, although a heavier pastry with butter or cream is acceptable. 
 


Regrettably, many PNS Dominants have been heavily influenced by medical and nutrition experts and eat well outside their nutritional requirements. They may favor heavier, “meat & potato” meals yet eat leaner meats, whole grain carbs, fruits, and vegetables despite not feeling satisfied. While many desire bacon and egg breakfasts, they opt for the lighter fruit, toast, and yogurt fare of the SNS Dominant, thinking this is a “healthier” choice. And, even while they gag at the thought of oatmeal or cream of wheat, they do their best to find a “healthy” compromise. They frequently have a spurt of energy for 30 minutes or so, only to feel tired and lackluster within the space of an hour. Yet, if allowed to eat a thick slice of ham with potatoes, they’ll have the energy they need to work throughout the entire morning.

In fact, many “vegetarian” PNS Dominants feel much more alert and energetic when they start eating animal proteins While they sought out the heavier “allowed” proteins (cheese, eggs, hummus), most never felt satiated. 
 
For the PNS Dominant, eating meat is not “morally inferior”; it is essential for their health and survival Ultimately, each person should consume the most healthful foods for their metabolic make up. Though SNS Dominants require mostly vegetarian, raw foods, for greatest health, those who are PNS Dominant require fattier, red meats. They are hardwired to function well on the wholesome, omega 3 fats & #glutamate found in grass fed meats. Besides, most will develop a multitude of health problems if they adopt the SNS Dominant’s diet. 
 
For those with concerns regarding #sulfur , while foods such as #broccoli & #cauliflower contain a fair amount of sulfur ... ..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

Annonymous

What does a CBS Gene Mutation mean ?

  4 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

You wanna work on cbs first because it's an upregulation when you start adding methylfolate and methylb12 and you don't have cbs under control all of the folate and b12 will used up down the cbs pathway instead of being recycled in the methylation pathway. It's a kind of a big balancing act. But once you start finding the right balance and getting better you will start to see the positives. The big ones I use for cbs is b6 active form p5p and molybdenum to balance copper and zinc and help break down excess sulfates. You ... ..more

1). #MTHFR #A1298C + #Liver & #BH4 support
Start at a few crumbs per day and very gradually, go up over several weeks’ time (generally 4-6 weeks). The goal is 1⁄2 to 1 capsule daily ($54.95/60 caps & $29.95/30 caps). This is whether you have the MTHFR A1298C defect or not.

2). Black Bear Spray or Get B12 Spray
Start at 1-2 sprays per day and very gradually work up to 3-5 sprays once or twice daily. A tip for adults who develop headaches with wine, it is very likely that you are sensitive to sulfites and the ... ..more

Wow. What a thread! My serum B6 was a bit over ref range. My OAT showed it to be low. So my doctor thinks I'm not processing or absorbing it. She started me on P5P, but I have to spread my 33 mg of it throughout the day, or else I get jitters and tingly extremities. I'm not sure my OAT was interpreted optimally. My mag RBC was 5.5 before I recently increased supplementation. I know I have some kind of source of lack with zinc, because starting that cured my chronic insomnia. I have brain inflammation ... ..more

Annonymous

What is a CBS C699T Gene Mutation ?

  4 years, 10 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

#Parasympathetic Nervous System “Rest, repair, & digest” or “Type B’s” There are 3 basic #PNS Dominant subtypes: Basic, Extreme, & Inefficient PNS Dominant types.
The following is a summary of the average PNS Dominant type. 
 The parasympathetic nervous system (PNS) works to nourish, heal and regenerate the body. It is anabolic, which means it is concerned with rebuilding the body and storing nutrients. Its’ nerves stimulate the immune system, digestion, and urinary function. These organs include the liver, pancreas, stomach, intestines, kidneys, and bladder.

The parasympathetic nervous system, when activated by rest, relaxation and positive thinking, is essential for the elimination of wastes, emotional wellbeing and healing. When you feel absolutely stuffed and lethargic after a big Thanksgiving dinner, it is your PNS that is most active. 
 
In situations in which we have excessive parasympathetic nervous system dominance, we often find #disorganization , #depression , #apathy , and #lethargy . There may also be a decrease in clarity of thought such as “spaciness” or poor concentration. The #adrenal and #thyroid glands tend to be underactive and sex #hormones such as #estrogen , #progesterone , and #testosterone are abnormally low. There are frequently issues with multiple #allergies and sensitivities #MCS , dry skin, weight gain or a tendency toward #obesity . These are generally the people who go on the same exact “Healthy” diet as their friends or partner yet struggle to lose a few pounds. Meanwhile, everyone one else has lost 10-20 lbs and is back to their regular routine. 



Other signs and symptoms include: frequent hunger, dry/irritated eyes, unexplained sneezing or coughing, #asthma , dizziness (particularly with standing), irregular heart beats or “skipped heart beats”, low blood pressure, and #hypoglycemia as well as increased production of all digestive enzymes and bowel activity, leading to more “stomach rumbling”. #PNS Dominants rarely struggle with #constipation and may have periods of loose or frequent stools. They are also more likely to experience the feeling of being “Tired yet wired,” particularly after eating a simple carbohydrate or sugary snack.

While #SNS Dominants may also struggle with this tired yet wired sensation, it is usually more prominent in PNS Dominance. Incidentally, those who cannot tolerate higher altitudes or the more rapid drops in barometric pressure (weather changes) are more likely the PNS Dominant or “Inefficient Balanced” types as a stronger SNS is required in adjusting to higher altitudes and changing weather patterns. These are the folks who know the weather is going to change before anyone else and often suffer with allergies or headaches. They are also prone to upper #respiratory infections, which may evolve to #bronchitis or #pneumonia . Despite this, they do not tolerate hot weather as well as the other types and prefer colder climates. They are also prone to flushing and may have pinker or darker ears and a “ruddy” complexion.

Nevertheless, when these individuals are well, they can be highly creative and productive and are often slow to anger. They tend to have less interest in “left brain” academics (math or science) and often prefer “right brain” academics (art, music, & lit).

According to Dr. Gonzalez, many Nobel Prize winners in art and literature are PNS Dominants (Hemmingway, Faulkner, & Lewis). PNS Dominants typically avoid confrontational professions and enjoy those, which allow their heightened creative abilities to flourish. And, depending upon where they reside within the PNS axis, many are “foodies” who live to eat rather than simply eating to live, as SNS types tend to do. These folks typically enjoy discussing good restaurants or engaging in discussions about great meals and recipes. They typically gravitate toward meat & potatoes with some veggies usually the root (potatoes, squash, yams) or cruciferous veggies (broccoli, cauliflower, Brussel Sprouts, cabbage). In general, PNS Dominants are more sociable than SNS types. Likewise, they may prefer to remain busy yet tend to avoid exercise. Still, #genetic factors also considerably influence many of these traits.


Finally, PNS Dominants are most likely to develop immune related cancers such as malignant #melanoma , #lymphoma , #sarcoma , and #leukemia . 
 
Food priorities: It is generally helpful to evaluate the foods you crave and how you tolerate each newly introduced food. For instance, after eating meat do you feel better and more clearheaded or are you more anxious, jittery, or depressed? If you’re having a lot of digestive issues, you may want to begin with mostly cooked foods, at least to some degree, in order to reduce the strain on your digestive system. Therefore, it is important to consider whether or not you tolerate raw vs. cooked foods. Those with PNS Dominance favor butter, cream, meat, and potatoes as well as sour flavors. Yet they avoid sweets, although a heavier pastry with butter or cream is acceptable. 
 


Regrettably, many PNS Dominants have been heavily influenced by medical and nutrition experts and eat well outside their nutritional requirements. They may favor heavier, “meat & potato” meals yet eat leaner meats, whole grain carbs, fruits, and vegetables despite not feeling satisfied. While many desire bacon and egg breakfasts, they opt for the lighter fruit, toast, and yogurt fare of the SNS Dominant, thinking this is a “healthier” choice. And, even while they gag at the thought of oatmeal or cream of wheat, they do their best to find a “healthy” compromise. They frequently have a spurt of energy for 30 minutes or so, only to feel tired and lackluster within the space of an hour. Yet, if allowed to eat a thick slice of ham with potatoes, they’ll have the energy they need to work throughout the entire morning.

In fact, many “vegetarian” PNS Dominants feel much more alert and energetic when they start eating animal proteins While they sought out the heavier “allowed” proteins (cheese, eggs, hummus), most never felt satiated. 
 
For the PNS Dominant, eating meat is not “morally inferior”; it is essential for their health and survival Ultimately, each person should consume the most healthful foods for their metabolic make up. Though SNS Dominants require mostly vegetarian, raw foods, for greatest health, those who are PNS Dominant require fattier, red meats. They are hardwired to function well on the wholesome, omega 3 fats & #glutamate found in grass fed meats. Besides, most will develop a multitude of health problems if they adopt the SNS Dominant’s diet. 
 
For those with concerns regarding #sulfur , while foods such as #broccoli & #cauliflower contain a fair amount of sulfur ... ..more