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

Discussion in 'Connective Tissue Disorders/Ehlers-Danlos Syndrome' started by Allyson, Nov 12, 2012.

  1. Allyson

    Allyson *****

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    Last edited: Jan 21, 2014
    merylg and Esther12 like this.
  2. Allyson

    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


    A
     
    Last edited: Jan 20, 2014
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  3. Allyson

    Allyson *****

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  4. Allyson

    Allyson *****

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  5. Allyson

    Allyson *****

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  6. Sea

    Sea Senior Member

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    @Allyson thanks for this thread. It has become a very detailed resource on EDS
     
    Allyson likes this.
  7. Allyson

    Allyson *****

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    POTS and MCA - Dr GRubb interview




    Dr Grubb is excellent - this is really interesting - about 5 mins long
     
    Last edited: Jan 25, 2014
  8. Allyson

    Allyson *****

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    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
     
  9. Allyson

    Allyson *****

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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.

    A
     
  10. Allyson

    Allyson *****

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    Drs Driscoll and Francomano - EDS and mast cells




    A
     
  11. Allyson

    Allyson *****

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    connective tissue explained
    [​IMG]
     
  12. Allyson

    Allyson *****

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  13. Allyson

    Allyson *****

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  14. Allyson

    Allyson *****

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    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

    [​IMG]
     
  15. Allyson

    Allyson *****

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  16. Allyson

    Allyson *****

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    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.
     
  17. Allyson

    Allyson *****

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  18. Allyson

    Allyson *****

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  19. Allyson

    Allyson *****

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    Last edited: Jan 31, 2014
  20. merylg

    merylg Senior Member

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