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Is ME due to Ehlers-Danlos Syndrome "stretchy veins"

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Allyson

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and some more light on the horizon?

Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos...
ncbi.nlm.nih.gov
The vascular type of the Ehlers-Danlos syndrome (vEDS) is caused by dominant-negative mutations in the procollagen type III ( COL3A1 ) gene.


a long article but well worth the effort. In short, the researchers' conclusion: "We have demonstrated for the first time that it is possible to selectively reduce the expression of the disease-causing allele of the COL3A1 gene . . . Thus, after developing an efficient and reliable method of siRNA delivery, the use of allele-specific RNAi appears to be a promising option for a personalized treatment of vEDS." Big step in the right direction for all types of genetic connective tissue disorders.

not sure if that is the right link up there

Fibrocell Science and Intrexon Expand Collaboration to Include Hypermobility-Type Ehlers-Danlos Syndrome

http://online.wsj.com/article/PR-CO-20140113-905169.html


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Allyson

Senior Member
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Australia, Melbourne
I don't think I posted this - ? form Mark Martino, EDNF

Mark MartinoFrom NIH http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome one can find labs doing which genetic testing (sequencing, deletion/duplication, prenatal, and/or carrier testing):

Gene Tests Arthrochalasia http://www.ncbi.nlm.nih.gov/.../lab/clinical_disease_id/2070

Gene Tests: Ehlers-Danlos Syndrome, Classic Type, COL1A1-Related http://www.ncbi.nlm.nih.gov/.../clinical_disease_id/319558

Gene Tests: Ehlers-Danlos Syndrome, Classic Type, COL5A1-Related http://www.ncbi.nlm.nih.gov/.../clinical_disease_id/319188

Gene Tests: Ehlers-Danlos Syndrome, Classic Type, COL5A2-Related http://www.ncbi.nlm.nih.gov/.../clinical_disease_id/319189

Gene Tests: Ehlers-Danlos Syndrome, Hypermobility Type http://www.ncbi.nlm.nih.gov/.../lab/clinical_disease_id/3263 (don't know what these are testing, actually — I assume the COL3A1 HM mutation, but I'm not sure)

Gene Tests: Ehlers-Danlos Syndrome, Kyphoscoliotic Form http://www.ncbi.nlm.nih.gov/.../lab/clinical_disease_id/3038

Gene Tests: Ehlers-Danlos Syndrome, Musculocontractural Type http://www.ncbi.nlm.nih.gov/.../clinical_disease_id/319374

Gene Tests: Ehlers-Danlos Syndrome Type IV http://www.ncbi.nlm.nih.gov/.../lab/clinical_disease_id/2067

Gene Tests: Ehlers-Danlos Syndrome Type VIIA http://www.ncbi.nlm.nih.gov/.../clinical_disease_id/319158

Gene Tests: Ehlers-Danlos Syndrome Type VIIB http://www.ncbi.nlm.nih.gov/.../clinical_disease_id/319159
 
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Allyson

Senior Member
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[quote[/quote]

and this comment - with link - was also made by Mark Martino

Mark MartinoThe problem is, even when we eventually know the mutations (and we're nowhere yet on Hypermobility type), we have no idea yet why the mutations express in such a range of severities, within the same generation of a family, even. That will be the important information, I think, and discussing it some at the conference this past weekend, I truly feel the so-called "junk DNA" will be the answer, at least partly. See http://www.sciencedaily.com/rele.../2013/08/130802101900.htm - which was written the same day I was having that discussion, coincidentally.

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Allyson

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Location
Australia, Melbourne
connective tissue explained
safe_image.php
 
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Allyson

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Location
Australia, Melbourne
here is the ghost heart pic that I could not post before a few post - all that you sees CONNECTIVE TISUE - show s how important this is in the body. It has been stripped of everything that is not connective tissue

1525008_10152150418980225_1525324486_n.jpg
 
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Allyson

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Location
Australia, Melbourne
Journal article abstract 2014


2014;802:145-59. doi: 10.1007/978-94-007-7893-1_10.
Ehlers-danlos syndrome associated with glycosaminoglycan abnormalities.
Miyake N, Kosho T, Matsumoto N.
Author information
Abstract...
Ehlers-Danlos syndrome (EDS) is a genetically and clinically heterogeneous group of connective tissue disorders that typically present with skin hyperextensibility, joint hypermobility, and tissue fragility. The major cause of EDS appears to be impaired biosynthesis and enzymatic modification of collagen. In this chapter, we discuss two types of EDS that are associated with proteoglycan abnormalities: the progeroid type of EDS and dermatan 4-O-sulfotransferase 1 (D4ST1)-deficient EDS. The progeroid type of EDS is caused by mutations in B4GALT7 or B3GALT6, both of which encode key enzymes that initiate glycosaminoglycan (GAG) synthesis. D4ST1-deficient EDS is caused by mutations in CHST14, which encodes an enzyme responsible for post-translational modification of GAG. The clinical and molecular characteristics of both types of EDS are described in this chapter.
 
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Allyson

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