Ehlers-Danlos syndrome

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Ehlers-Danlos syndrome

Post Number:#1  Post by studentroland » Mon Apr 22, 2013 9:52 am

I´ve got a neighbour who claims he´s probably got Ehlers-Danlos syndrome, on the basis that two of his relatives are diagnosed with this condition...but he shows no apparent signs of it, though...it seems that the different types of this genetic disease were not recognized until the late nineties...
http://www.physio-pedia.com/Ehlers-Danlos_Syndrome
I searched this VC-forum, but no posts contained this syndrome...I´ve also looked around the Internet a little bit, but have not come up with any solid connection yet with vitamin C and this disease, although it sounds to me as if this disease in some cases can be yet another outcome of chronic low levels of vitamin C? Does anyone have some useful links on this subject, or an opinion of the relevance of it to hypoascorbemia?

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Re: Ehlers-Danlos syndrome

Post Number:#2  Post by majkinetor » Tue Apr 23, 2013 11:30 pm

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.

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Re: Ehlers-Danlos syndrome

Post Number:#3  Post by studentroland » Wed Apr 24, 2013 2:30 pm

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

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Re: Ehlers-Danlos syndrome

Post Number:#4  Post by majkinetor » Wed Apr 24, 2013 11:06 pm

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

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Re: Ehlers-Danlos syndrome

Post Number:#5  Post by studentroland » Thu Apr 25, 2013 5:25 pm

Wow..a lot of new stuff to digest here...Bruce Ames...(biochemist) ...triage theory...enzyme Km...(Michaelis konstant) ...and 50 genetic disorders...one of which no doubt will turn up to be Ehlers-Danlos syndrome, I presume? ...this "triage-theory" sounds very reasonable at first glance, and I will have to look into this further...I´ve so far only considered vitamin- and mineral-supplementation in relation to "ordinary" diseases, like cancer, cardio-vascular, thyroidal, syndrome X, etc., etc. and other "western society diseases", being the results of suboptimal diets and unhealthy lifestyles in general, and preferentially taken as "prevention" rather than "cure"...however...extending the mind to encompass vitamin- and mineral-supplementation (and orthomolecular medicine?) in relation to genetic diseases aswell will, as I spontaneously see it, have to somehow engage the concept of epigenetic factors....

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Re: Ehlers-Danlos syndrome

Post Number:#6  Post by Dolev » Thu Apr 25, 2013 10:57 pm

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.
Dolev

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Re: Ehlers-Danlos syndrome

Post Number:#7  Post by studentroland » Fri Apr 26, 2013 5:35 pm

Thanks...it seems that this area of investigation is an ongoing developing field...as it says in the conclusion:
The examples discussed here are likely to represent only a small fraction of the total number of defective enzymes that would be responsive to therapeutic vitamins

I´ll continue to keep an open mind about this triage-theory in relation to Ehlers-danlos syndrome, and not expect a clear-cut explanation of it´s relation to vitamin C, for example...I´m currently still reading the "Oxygen".book by Nick Lane, so this E.D.-syndromequestion will have to be a drawn-out one...:)

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Re: Ehlers-Danlos syndrome

Post Number:#8  Post by majkinetor » Fri Apr 26, 2013 6:42 pm

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.

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Re: Ehlers-Danlos syndrome

Post Number:#9  Post by studentroland » Sat Apr 27, 2013 12:01 pm

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...?

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Re: Ehlers-Danlos syndrome

Post Number:#10  Post by majkinetor » Thu May 02, 2013 6:53 am

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.

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Re: Ehlers-Danlos syndrome

Post Number:#11  Post by studentroland » Thu May 02, 2013 4:47 pm

Thanks for the input...but I´ve never heard of any disease-causing "over-working" enzymes before...?
However, what if enzyme overworking is the problem. I can imagine that B will make things worse then.

I googled it, but didn´t come up with any relevant site...I did find, though, that some (very rare) E.-D. variants are inherited 'autosomal recessive', which means that if one has one functioning gene, one does not have the disease, and the others (4 of them) are inherited 'autosomal dominant', and one has a 50 % risk of inheriting it ... and then there is another possibility of having an X-linked variant, which makes the whole picture a little more complicated...too complicated for me to feel like persuing the investigation into this matter any further, since it says on several sites that megadoses of C is proving to be helpful in some cases, and I´ll pass this info. along to my neighbour in our discussions, plus the other info. I´ve learned about the disease via this thread...e.g. the benefit of B-50...
The diagnosis of EDS, classic type is established by family history and clinical examination.

http://www.ncbi.nlm.nih.gov/books/NBK1244/
the diagnose for this genetic disease is in some variants also done clinically without actual "genetic proof" about which gene is damaged, and where, so perhaps there might be a slight risk on behalf of my neighbour to be stuck in a kind of "idiopathic mental thinking-pattern" about having this disease, thus being immune to any of my theories about the longterm benefits of megadosing with vitamins...who knows...another angle of view upon the same situation which I found, is the theory of seven stages of disease...although I don´t buy into all the details of the concept as it is presented on the site linked to below, I appreciate that the gradual process of acquiring a disease, especially a genetic one, can be a lengthy process...
http://enzymes.subtleenergysolutions.com/sevenstages.html
So... I´m very greatful for all the sincere responses in this thread, and I´ll keep talking to my neighbour...

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Re: Ehlers-Danlos syndrome

Post Number:#12  Post by majkinetor » Thu May 02, 2013 5:36 pm

but I´ve never heard of any disease-causing "over-working" enzymes before...?

Did you hear about google ? :mrgreen:
Overactive transcription is well known. Its not that enzyme is over-active, although its theoretically possible, but that there is enzyme overproduction. The damaged gene in paper you referenced (which I didn't read) could be anything, maybe overproductive for instance (although it usually means under or no-productive).

For your neighbor, the best thing he can do is to take bunch of selected nutrients and see how it goes. I gave paper with complete nutritional approach which is good start. It does make sense to take lots of C and he has one case for it I cited above. It will not come overnight. B50 is a guess, it might help. Probability for harm is low and even if it happens, I believe it should be reversible.

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Re: Ehlers-Danlos syndrome

Post Number:#13  Post by studentroland » Fri May 03, 2013 1:33 am

Well, I saw that enzyme overproduction is mentioned in connection with a virusinfection, Dengue-fever:
http://www.downtoearth.org.in/node/5439
and in connection with bacterial industrial production of desired products, called recombinant DNA-technology:
http://onlinelibrary.wiley.com/doi/10.1002/abio.370080213/abstract
but I can´t seem to come up with any specific genetic overproduction of enzymes that is the primary disease-causing factor for a particular diagnose, although some examples of it are mentioned as being possible co-mechanisms with non-genetic diseases, such as asthma:
http://www.ncbi.nlm.nih.gov/pubmed/10970818
and cancer:
http://www.biotechdaily.com/genomics_proteomics/articles/294732021/overactive_transcription_factor_transforms_normal_epithelial_cells_into_tumors.html
and also i relation to "acquired resistance", but this qualifies as belonging to the field of epigenetics as I see it...
http://www.ncbi.nlm.nih.gov/pubmed/9155148
Such basically non-genetic diseases (as I see them) as virus-infections, cancer and also psychologically acquired and maintained psychosomatic disorders, e.g. M.S.:
http://www.direct-ms.org/pdf/CausalSpecific/NitricOxide.pdf
might perhaps for various reasons, one of which may certainly be genetic variance, have both under- and over-production of a whole host of enzymes and proteins, which may become visible as part of a basically non-genetic disease-process, such as asthma, cancer or M.S., but that´s not the same thing as saying that this genetically triggered overproduction of enzymes (or proteins) is to be viewed as the actual sole cause of the entire disease, as is the case with genetic diseases, e.g. those 50 mentioned in the paper by B. Ames, Down´s syndrome or E.D., where the genetic "distortion" is considered to be the only sole congenital and recognizable cause of the condition at hand in and of it´s own existence?
Last edited by studentroland on Mon May 06, 2013 8:44 am, edited 1 time in total.

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Re: Ehlers-Danlos syndrome

Post Number:#14  Post by ofonorow » Sat May 04, 2013 3:00 pm

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
Owen R. Fonorow, Orthomolecular Naturopath
My statements have not been evaluated by the Food and Drug Administration. Any product mentioned is not intended to diagnose, treat, cure or prevent any disease.”

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Re: Ehlers-Danlos syndrome

Post Number:#15  Post by studentroland » Mon May 06, 2013 6:51 am

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


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