Thread by @SabeehaMalek

Excited to share my new paper with @ActinDomain! We are proposing an updated definition of #EDS/#HSD, and explain how they could all be disorders of membrane-bound collagen. We explain the science in our new publication in @FrontCellDevBio. doi.org/10.3389/fcell.…

Please also see the blog on @hEDStogether for a shorter and more easier-to-read lay summary of the main findings! hedstogether.com/projects/patho…

In our review, we explain how fibroblasts play a significant role in the connective tissue, by adhering to collagen and pulling on it to control tissue tension via a mechanism called “tensional homeostasis” doi.org/10.3389/fcell.…

We bring forward studies in EDS fibroblasts from animals, which showed that impaired cell adhesion to collagen caused failures in the tensional homeostasis mechanism, and this in turn, caused the fragile connective tissue in EDS animals. doi.org/10.3389/fcell.…

Though the human EDS fibroblasts failed to show the same abnormalities in these studies, we explain how an experimental technicality may have been responsible for this result, and hence, the same pathomechanism may still be responsible for EDS in humans. doi.org/10.3389/fcell.…

We therefore make the proposal that EDS/HSD are disorders of membrane-bound collagen. If confirmed, membrane-bound collagen could also be a potential diagnostic biomarker to identify any subtype of EDS/HSD, irrespective of the underlying genetic basis. doi.org/10.3389/fcell.…

We also propose this pathomechanism may be implicated in #MECFS and #fibromyalgia, since there are significant overlaps in connective tissue pathology and this pathomechanism also allows for the possibility of an acquired EDS phenotype in affected tissues. doi.org/10.3389/fcell.…

We also highlight the need for a therapeutic agent to promote arterial integrity in #vEDS, and how targeting this pathomechanism could be viable therapeutic strategy if the same pathomechanism also occurs in these tissues. doi.org/10.3389/fcell.…

Please read the full paper for the scientific details! doi.org/10.3389/fcell.…, and the @hEDStogether blog for a quick summary hedstogether.com/projects/patho…
Please also keep in mind that these are currently proposals which still need validating.

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