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
High dose #FolicAcid is the worst thing a person with the MTHFR gene mutation should take.
If a doctor tells a person with the #MTHFR gene mutations to take Folic ACID then that doctor does not really understand anything about the #L-Methyl Folate receptors on the Blood Brain Barrier [BBB]. The doctor does not realize that high dose Folic ACID is just going to block up the L-Methyl Folate Receptors on the BBB. When Folic ACID gets into the L-Methyl Folate Receptors it BLOCKS the receptor and it doesn't get into the brain and neither does the L-Methyl ... ..more
Taking #Magnesium will help to block an otherwise over-active NMDA Receptors and… calm the brain.
HOMOCYSTEINE can occupy the #Glutamate Receptor on the NMDA Receptor and over stimulate the receptive dentritic neuron and can lead to neuronal damage or “burn out” [death].
Taking MAGNESIUM is calming because in part it blocks the NMDA Receptor and buffets the excessive stimulation by TOO MUCH HOMOCYSTEINE occupying the Glutamate Receptor site.
A synapse that is gated by only NMDA is less likely to cause an excitatory post synaptic potential (EPSP) because the ion channel is blocked ... ..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
The Folate Receptor on the Blood Brain Barrier [BBB] that gets all blocked up by Folic ACID is called: Folate Receptor Alpha
Folic Folic ACID gets TOTALLY STUCK in this receptor...essentially ruining the receptor's ability to carry any reduced L-Methyl Folate into the Brain. The entire complex of the Folic ACID attached and stuck in the Folate Receptor Alpha must all be degraded and a new receptor will then need to be made all over again.
THIS...is the main reason why the supplement you want to get is L-Methyl Folate and NOT...unnatural SYNTHETIC...Folic ACID.
A ... ..more
Lithium has been known for years to be useful for #bipolar disorder. Despite all that is known about lithium and its impact on biochemical pathways, no one has defined the mechanism by which lithium has its impact on bipolar disorder. It is likely to be an effect on multiple pathways. There are a number of enzymes in the body that are known to be impacted and inhibited by lithium.
Lithium comes together with methylation at #COMT, the enzyme catechol-o-methyl-transferase. COMT breaks down #dopamine and #norepinephrine. Dopamine is a critical #neurotransmitter for motivation, focus and attention, among other functions ... ..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