Ehlers-Danlos syndrome

[studentroland]

[majkinetor]

Ehlers-Danlos syndrome type VI with normal lysyl hydroxylase activity cannot be explained by a defect in cellular uptake of ascorbic acid


Vitamin C and human wound healing
http://www.sciencedirect.com/science/ar ... 208290295X
" Genetic impairment of collagen synthesis has also been observed to be responsive to ascorbic acid supplementation in an 8-year-old boy with Type VI Ehlers-Danlos syndrome"

Transcriptional activation of type I collagen genes by ascorbic acid 2-phosphate in human skin fibroblasts and its failure in cells from a patient with alpha 2(I)-chain-defective Ehlers-Danlos syndrome
http://www.ncbi.nlm.nih.gov/pubmed/8482361

One case: http://b-u-b-b-l-e-girl.blogspot.com/20 ... min-c.html

I guess C can't harm in this case, although I would primarly use 2xB50 complex.

[studentroland]

Thankyou very much...these are all interesting links...especially the pubmed-article...and about 2 * B50...why?

[majkinetor]

According to Ames , B vitamin alone can reduce severity over 50 genetic disorders by affecting enzyme Km.

[studentroland]

[Dolev]

http://ajcn.nutrition.org/content/75/4/616.full.pdf

Here is the link to the pdf of the entire Ames article about the 50 genetic disorders. The particular syndrome in this thread is not listed.

[studentroland]

[majkinetor]

Here is the link to the pdf of the entire Ames article about the 50 genetic disorders. The particular syndrome in this thread is not listed.

Its a general principle. It probably works with number of disorders.
I imagine that it could make some of them worse.

[studentroland]

Its a general principle. It probably works with number of disorders.

This is an interesting theory/principle...triage-theory...
http://www.smart-publications.com/articles/dr-bruce-ames-proves-his-triage-theory-of-micronutrients-with-vitamin
that the body takes what it needs from where-ever possible, and prioritizes according to an internal biological unconscious scale of necessity, 24/7...and any core-vulnerability that is eventually exposed by this prioritizing, might leave the DNA more open than usual for mutations...however...this way of thinking might be appropriate for understanding already manifest and recognized genetic diseases, such as in the paper referred to above...where the genetic "damage" or at least "change" has already happened, and the individual has a manifest and diagnosed genetic "disease" or "disorder"...which can perhaps, according to Ames, be alleviated by appropriate megadoses of vitamins and/or minerals, thus making the best of what can be done...but when an individual is not yet diagnosed with a genetic disease, I imagine that there would be a whole lot of "epigenetic factors" that would have to change first...perhaps this is part of the picture in all the "ordinary" diseases, which have not yet progressed into a "full-blown" genetic one? ... as for example Ehlers-Danlos syndrome, of which there are at least six! different types? It says here what specific genes are involved...
http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome
but on the other hand, it says on this page that also epigenetic factors are involved when it comes to collagen-disruption in cancer...

The available, albeit limited, information suggests that the multiple epigenetic mechanisms are engaged in the selective regulation of the transcriptional activity of MMPs, TIMPs and their ECM collagen substrates in cancer compared with normal tissue.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3138141/

So, until one is actually diagnosed with a genetic mutation in some gene, one might perhaps be able to change and enhance the epigenetics with supplementation before any real damage is done to the actual gene...?

[majkinetor]

So, until one is actually diagnosed with a genetic mutation in some gene, one might perhaps be able to change and enhance the epigenetics with supplementation before any real damage is done to the actual gene...?

I don't think you got that right. Nobody can diagnose you 100%, perhaps you already have it but it waits for another trigger to become clinically visible.

Like I said, its blind guess because B vitamin theory works via improved enzyme function. If your non-working enzyme is the source of the illness brute force with tones of B will certainly have potential to help. However, what if enzyme overworking is the problem. I can imagine that B will make things worse then. Unless there is some compensating mechanism by the body to prevent damage, which itself depends on B more then the other one....

I guess the one simply needs to try it out for few months and see how it goes.

Epigenetics are entirely different mechanism and while it depends on existance of adequate amounts of B it has nothing to do with what I suggested here. We don't know much about epi so its even more blind guessing in that case.

[studentroland]

[majkinetor]

[studentroland]

[ofonorow]

You are way past me! But I remember writing this article to remind us that a "gene" is merely a blueprint for a protein. And all enzymes are proteins. So vitamins (most of which are co-enzymes) can be expected, in theory, to help account for errors in the blue prints - DNA

http://internetwks.com/owen/gene.html

[studentroland]

What I'm aiming at, is to find a logical way to understand, and perhaps also overcome?, my neighbours mental fixation with him believing in the possibility of him having Ehlers-Danlos syndrome, just because two of his relatives are diagnosed with it, in spite of the obvious visible facts the he does not have any hypermobility of joints or any particularly stretchable skin...(whether his relatives do, I don't know). My logic so far is that chronically low levels of vitamin C and other vit./minerals do eventually cause several wellknown diseases, so one is better off by supplementing while being disease-free, but once a particular disease has occurred, one might also regain health by supplementation...however...my neighbours fixation with him possibly having a genetic disease makes my argumentation fall flat to the ground, since no amount of supplementation in the world can do anything to a genetic disease, apart from reducing symptoms perhaps...(and he relies heavily on medical-doctors for disease in general, and with genetic diseases in particular!...) however...I might perhaps further the virtues of megadosing with vitamins with the logic that although most E-D.-syndromes are inherited autosomal dominant, two of them, the Kyphoscoliosis type 6, mentioned in the link above provided by Majkinetor, and the hypermobility type, type 3, are also inherited autosomal recessive, so if he is by chance a carrier, he would still benefit enormously from megadoses of vitamin C, since his hypothetical then only 50% capacity for producing a particular type of collagen due to the inability of this possibly affected gene to produce functional collagen, necessary for joint-stability and other functions, will be 50% more vulnerable to ascorbic-acid deficiency compared with the capacity of a healthy person, since only one gene remains to produce this type of collagen when ascorbic acid is present...say if a healthy person ingests a couple of oranges or a gram-tablet of C, and gets temporary relatively "higher than normal" levels of C in the blood, the amount of proper collagen produced during the time when 'higher than normal' amounts of C was present would be 50% higher in a healthy individual compared with a "carrier" where one defective collagen-producing gene is present...an otherwise disease-free "carrier" of an 'E.D.-syndrome recessive gene' would simply put need 50% more C than a healthy person, or the same amount present for 50% longer time, to attain the same amounts of properly produced collagen as a healthy person has, thus leading to the same overall structural integrity as a person with two intact genes has...? ...in other words, a person carrying a defective recessive E.D.-gene would need more vitamin C than a non-carrying person...?

While looking into this enigma, looking among other things for a sort of "time-line" of when in ancient history the different mutations occurred that caused various proteins to become necessary as "vitamins", I found a for me completely new one, one which I've never heard of before...where the methylation-process apparently can be disturbed by one or two mutations, called MTHFR-mutations....leading up to a whole range of difficult-to-understand conditions... it can be read about here:
http://www.methyl-life.com/index.html