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
#Sympathetic Nervous System “Fight or flight” or “Type A’s”
There are 3 basic #SNS Dominant subtypes: Basic, Extreme, & Inefficient SNS Dominant types. The following is a summary of the average SNS Dominant types.
Personality traits vary widely in this group depending on whether they are more analytical vs. emotional. For instance, more emotionally based SNS Dominants are likely to be more volatile and “nervous” whereas the more analytical type does not.
The sympathetic nervous system (SNS) activates the glands and organs that defend the body against attack, whether it is running from a saber toothed tiger or you are struggling with a dreadful job and difficult boss. It is called the fight or flight system and once activated, it directs more blood to the muscles, #adrenals and the brain yet away from the digestive organs and skin. The adrenals pump out #epinephrine while the sympathetic nerve endings throughout the body release #norepinephrine . This system is #catabolic , which simply means that energy is used to prepare for defense, rather than for nourishment, healing, or waste removal. #Sympathetic activity triggers the thyroid and adrenal glands to provide extra energy for fighting or running away. The heart rate and blood pressure also increase, just as the blood flow to the digestive system and kidneys decreases. This process is largely due to the intensified release of stimulating chemicals, known as #neurotransmitters #epinephrine and #norepinephrine . While this activity is critical for survival, those who have chronic activation of the SNS often develop #anxiety, #insomnia , heart racing or disease (heart failure), and adrenal #fatigue . They also have “goose bumps” more frequently than other types and tend to do best in warmer weather. A Sympathetic Dominant Nervous System often leads to significant gastro-intestinal issues due to the poor #digestion of meats and fats. These folks often feel as though food "sits like a rock in my gut". Due to the rising levels of Norepinephrine (the body’s flight or fight neurotransmitter), digestion shuts down to reserve precious resources for survival. Chronic activation can lead many to feel agitated, jittery, wired, & restless as well as prone to sleep disturbances and anxiety. They may also experience the vicious cycle of the “Wired but tired” sensation when eating an inappropriate diet or taking the wrong supplements, which in their case, is filled with sweets and other junk foods or heavy proteins. When a dysfunctional sympathetic nervous system reigns supreme, one may experience anxiety, stress, or feelings of panic, which should normally only occur in response to a perceived threat. Subsequently, they may overreact to even the mildest of daily troubles.
These individuals often start out thin and active yet poor diets—usually filled with sweets and starchy carbs often lead to later weight gain. When busy or stressed, they frequently forget to eat regularly, if at all. They are often pale, do not tolerate cold weather and tend to have colder hands & feet. Such individuals are often impatient and easily frustrated or angered, yet it appears to quickly pass. They often make for volatile partners and bosses, in that they frequently explode; yet minutes later have already moved on. They are also frequently viewed as “intense,” “aloof,” or “bold,” and have a tendency of “sticking their foot in their mouths” by being too aggressive or forward. Nevertheless, #genetic & environmental factors influence this area considerably.
They are also very driven, ambitious, and motivated people who may excel in academics or in high energy vocations that require multi tasking and social interaction. Many also enjoy a stimulating debate or confrontation (attorneys, politicians, generals). When healthy ... ..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
• Hyperventilation (often associated with decreased Carbon dioxide/CO2)
• Central nervous system toxicity
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
Think “nervous, nimble and nightmares” with Nor-epi. This is due to nor-epinephrine’s #adrenalin effects on the body as the main “fight or flight” #neurotransmitter . It’s essential for action in order to ward off attackers and initiate battle or escape. When we encounter something frightening, such as the sound of someone in your house at 3am, your nervous system releases nor-epinephrine. Once tired, you’ll suddenly feel the need to spring into action! Your heart starts to pound and hearing and vision become extremely acute while muscles tighten for attack. Unless you panic, you’ll also have clearer ... ..more
Glutamate is the major excitatory #neurotransmitter and the most commonly found NT in the brain. It is required for #learning and #memory , however, an excess of #glutamate is actually toxic to brain cells and nerves. #LouGehrig’s is the most well known disease of glutamate excess but newer evidence reveals many other disorders may be related such as #Autism , #CFS, many #seizure disorders, #Migraines , #MS , and many more. Glutamate balances #GABA ’s calming effect.
High levels can cause nerve and brain cell death and injury through inflammation. High or imbalanced glutamate levels are clearly involved in many neurological diseases such ... ..more
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
Understandably, human beings adapt much more readily to positive reinforcement, avoiding the negative experiences. While there are many approaches to #detox , experience has shown that it takes commitment on par with taking a seminar or, when really ill, getting through a longer flu or hospitalization. It takes an extensive amount of time, energy, and dedication, which is often extremely difficult for those who work full-time and/or have a difficult time slowing down. Regardless of the strategy, if you relegate the process to moments of “when I get time,” you cannot be successful. Many make the mistake of trying to ... ..more