In researching the links between chronic illness and clustering in family, it became clear that EDS/MCAS/POTS and Neurodevelopmental disorders were associated by much more than correlation. After discovering RCCX Theory - which explained this association clearly and accurately - this website was created with the intent of logging my findings while devulving deeper into the research.
CYP21A2 is the main gene implicated, being a carrier of this gene may mean you are
- More vulnerable to stress.
- and therefor, more prone to epigentic changes increasing immunological issues.
- Since TNXB overlaps CYP21A2 , it can get caught up in while it's 'evolving' causing 'CAH-X' (EDS + CAH).
- HERV-K is overexpressed in RCCX within CFS patients, an increased risk from Epstien Barr (herpes virus) and other pathogens like Lyme and Co-infection which can mimic (or exacerbate) chronic illness.
- If genes for abnormal 21-hydroxylase are present, issues due to an excess of heme and inactive copper may arise (CADASIL, Wilson's Disease)
- If genes for deficient 21-hydroxylase are present, the ability to hydroxylate progesterone into cortisol and aldosterone will be hampered.
- Aldosterone reduction inhibits the bodies ability to retain salt (Peeing more at night).
- If genes for hyperglycimia are present, excess calcium being deposited in the brain could be the cause for Parkingsons and Alzhiemers.
- If Vitamin D / B12 / Folate mutations are present, this may be the trigger for ASD, ADHD and most neurodevelopmental and DSM-V diagnosis'
- If genes for histamines are present, seemingly unconnected high-histamine foods could be the trigger for MCAS, GI issues, headaches, joint pain, fatigue, etc.
- Alpha-1 Trypsine Deficiency (AAT)
- Alpha tryptase - 6% population
- Classical-like Tenascin-X Deficient EDS
Explained phenomenom & protocols
- Cusack Protocol
- Malter Institute
- The Root Cause Protocol - bioavailable copper.
- Wahls protocol
- Nexus Theory - Nutrients being the cause of ASD
- Vitamin D spanish doc
Root Cause Protocol
Bioavailable Copper converts toxic “Ferrous Iron” (Fe2 +) into beneficial “Ferric Iron.” (Fe3 +)
Without enough Bioavailable Copper, unbound toxic “Ferrous Iron” runs around the body like a 4 year old with a hammer, causing Oxidative Stress / Inflammation / aka. “rust”, the root cause of virtually all health challenges.
Therefore, the priority focus of The Root Cause Protocol is to increase Bioavailable Copper, which will minimize Oxidative Stress and therefore, minimize the Magnesium Burn Rate.
This protocol fits in well with RCCX Theory - progesterone levels can, in time, go from being very low due to the exaggerated stress response to very high during enzyme overwhelm, and along with this, bioactive copper can possibly be depleted. With copper depletion, B vitamins may not methylate properly. However, there are some serious risks and anecdotal reports of the copper overwhelming the ezyme
What I think happened and what I think copper does for some of us:
Those with CYP21A2 mutations which produce defective 21 hydroxylase must make more than double the amount of 21 hydroxylase of a normal person for the same stressor. Also, the amount of 21 hydroxylase needed is determined by the level of stress which is just continuing to rise because of illness in a ever going positive feedback loop. The amount needed can never be made. In those people copper gets depleted (because heme containing enzymes need copper), the heme enzymes unravel, including 21 hydroxylase.
Here is an article describing a study showing that this unraveling happens with SOD with copper deficiency and is corrected with chelated copper
"When SOD1 is lacking one of its metal atoms (it has one copper and one zinc atom), it “unfolds” and starts causing damage. Instead of helping to protect motor neurons, it becomes toxic. Since copper is carefully controlled in the body for a variety of reasons, including potential toxicity, most copper therapies are very difficult to use. CuATSM, however, is capable of delivering copper atoms in hard-to-reach places in the body. As described by Dr. Beckman and his colleagues in the The Journal of Neuroscience, CuATSM fed to laboratory animals with ALS actually delivered copper to motor neurons of the spinal cord. Although the animals wound up producing more mutant SOD1, the extra copper allowed SOD1 to stay in its properly folded, protective form."
So back to us: With copper deficiency and enzymes unraveling, we experience severe adrenal fatigue, an inability to methylate B vitamins (especially if MTHFR mutations are present), low neurotransmitters, abnormal heme in the urine (pyroluria, controversial I know) and brain, ie.e multiple sclerosis:
The Naviaux/Davis dauer response gets initiated because the body is very stressed (with or without the copper depletion and this happens in others vulnerable to stress-nonRCCX- as well).
Then if the person repletes copper, the enzymes work, the cortisol shoots up way above normal and in some people, I believe thatm this causes the 21 hydroxylase switch to trip again and 17OHprogesterone builds up again, MCAS becomes severe again and there is severe adrenal fatigue with no ability to make adequate cortisol at all. This is what happened to me-I am sure of it.
I am now off of copper, but expect that I will do cycles of it to keep my enzymes online.
Again, not medical advice and I don't know if berberine or copper is safe in the long term or even short term for some people. Just discussing ideas and describing my experience.
- Dr Sharon Megalthery
The Root Cause Protocol gets a lot right - but a lot of it seems to be almost by chance, however the pricing scheme clearly is not by chance.
Lots of people notice benefits, seems to be a mostly guesswork however with some concerns being raised for Aloe Vera for other types of EDS.
According to the "Nexus Theory™", proposed by Dr Russell-Jones, the deficiencies outlined in the Biochemistry section of Wipe-Out Autism, come together in a central point, vertix, or Nexus. This point of convergence involves the final step in activation of the pro-hormone form of vitamin D (calcidiol, 25-hydroxy-vitamin D) to the biologically active form of vitamin D (calcitriol, 1,25-dihydroxy-vitamin D). This Nexus involves the interaction of three different enzymes in a three enzyme complex, CYP27B1 (25-hydroxyvitamin D3 1-alpha-hydroxylase), Adrenodoxin (an Iron-sulphur protein) and Adrenodoxin reductase (an NADPH/.FAD enzyme). A corollary of the theory is that a deficiency in the amount of 1, 25-dihydroxy vitamin D in combination with the deficiencies that cause the vitamin D deficiency dramatically affect the development of both the foetus and the new-born child.
Nexus Theory, perhaps the worst named theory and certainly the worst website name (wipeoutautism.org). Ignoring the fact that certain types of autism are not related to RCCX or nutrition at all - this theory is a simple
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