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
Methylation is a key biochemical process that is essential for the proper function of almost all of your body’s systems. It occurs billions of times every second; it helps repair your DNA on a daily basis; it controls homocysteine (an unhealthy compound that can damage blood vessels); it helps recycle molecules needed for detoxification; and it helps maintain mood and keep inflammation in check.
To keep methylation running smoothly you need optimal levels of B vitamins. Without enough B vitamins methylation breaks down, and the results can be catastrophic. In these cases we see more birth defects like spina ... ..more
The methylation pathway can be likened to the body’s chief housekeeping and maintenance systems. It is responsible for many of the most complex and vital undertakings throughout the body, occurring each time the body takes one substance and turns it into another. This chemical exchange occurs between enzymes, amino acids, proteins, and other molecules in order to maintain cell function. Methylation regulates gene expression, allowing beneficial genes to function while keeping less desirable genes at bay. It also provides the backbone for the immune system, DNA, RNA, cellular repair, detoxification, hormone regulation, and communication between the cells and ... ..more
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.
Monitor for oxalates, high taurine, MMA, and/or methionine levels as well as low cholesterol.
Ethanolamine and the ... ..more
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
Adverse reactions to fluoroquinolone #antibiotics ( #Cipro #Ciprofloxacin #Levaquin #Levofloxacin #Avelox #Moxifloxacin and #Floxin #Ofloxacin ) can manifest in patients as a multi-symptom chronic illness that most resembles #fibromyalgia #chronic fatigue syndrome #CFS / #myalgic encephalopathy (ME) and/or an #autoimmune diseases. As is the case with those chronic multi-symptom illnesses, the symptoms of fluoroquinolone toxicity vary greatly from one individual to another. Though almost everyone who suffers from fluoroquinolone toxicity has some sort of musculoskeletal issues (fluoroquinolones have a black box warning about the risk of tendon rupture), #neuropathy and autonomic nervous system dysfunction, those broad categories of symptoms are where the ... ..more
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
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
#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
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 it mean to "spare dopamine"? As mentioned in the above COMT discussion. Not use it? Not create it? ..more
It is important to understand the basics of methylation, and although a more detailed study of #methylation chemistry may be interesting, for our needs, it is not really necessary to study it here as it will only serve to confuse matters, so only the most important aspects will be considered.
Put simply, the methylation process makes #neurotransmitters (mood building blocks), and the issue of a person being an under or over methylator can be confusing, because there is contradiction between the various sources of information on the methylation process. For our purposes, we'll say that an over methylator is ... ..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
The #MTHFR mutations can affect the proper function of the immune system, and allergies are a result of immune system dysfunction.
There are many ways that the Methyltetrahydrofolate Reductase [MTHFR] enzyme can weaken the immune system, but I do know that if we do not have enough #SAMe then we cannot deactivate Histamine via the #Histamine N-MethylTransferase [ #HNMT ] enzyme.
If Histamine cannot be inactivated then the symptoms of excess HISTAMINE will be perpetuated.
You can find your Histamine Gene status on your #23andMe Gene Test ..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
"Adrenal Fatigue" is a term that you hear a lot in the health community, but what is it exactly? In this article you'll learn the causes of adrenal fatigue, how it can impact how you feel, and what you can do about it!
Your adrenal glands sit on top of your kidneys and regulate many critical hormonal jobs in your body. One of those jobs is the secretion of your body's main stress hormone, cortisol. Our bodies have been designed for stressful events, and throughout time they have adapted to them. If our ancestors were chased by a ... ..more
To learn more about COMT Gene:
Dr. Richard Deth PhD
Dr. Jill James PhD
1) http://www.ucdmc.ucdavis.ed... (2006 lectures, please scroll down for oxidative Stress Lecture as well).
2) http://www.ucdmc.ucdavis.ed... (2010 Lecture Methylation/Oxidative stress). http://www.youtube.com/watc...
Acetylcholine is known as the inhibitory #Neurotransmitter System
The first #neurotransmitter to be discovered in 1921. Its’ importance lies in the fact that it stimulates muscles to contract. This NT alters heart muscle contractions and impacts muscle function throughout the body. It’s also strategic in vocalizations/ #speech and #swallowing . Acetylcholine is critical for #attention , #alertness , and #memory . People with #Alzheimer’s , #Parkinson’s , #ALS , and #Myasthenia Gravis have substantial #dysfunction within acetylcholine activity or breakdown.
Low levels are associated with #depression , and a lack of #concentration & #emotion as well as poor #muscle tone, #forgetfulness , and poor #sleep “light sleepers ... ..more
#Homocysteine is a toxic waste by-product of protein and amino acid metabolism, and #methylation in the body is going on constantly, converting this damaging homocysteine into the #antioxidant #glutathione.
Methylation also converts homocysteine into an important biochemical called #SAMe , a vital methyl donor for the production of the all important neurotransmitters dopamine, serotonin and their derivatives. This is how the body makes good use of this toxic element.
Keeping homocysteine at a healthy, low level is extremely important for keeping our risk of heart disease, stroke and Alzheimer's disease as low as possible. High levels of homocysteine, if left ... ..more