Graves Ophthalmopathy Clinical Trial
Official title:
Genetics and Epigenetics of Graves' Orbitopathy
Graves' orbitopathy (GO) is an autoimmune disease persisting when immunosuppression is
achieved. Orbital fibroblasts from GO patients display peculiar phenotypes even if not
exposed to autoimmunity, possibly reflecting genetic or epigenetic mechanisms, to be
investigated here.
Primary cultures of orbital fibroblasts from GO and control patients will be established.
Cell proliferation, release of hyaluronic acid (HA) and HA synthases (HAS) will be measured.
Next Generation Sequencing and gene expression analysis of the whole genome will be
performed, as well as global DNA methylation assay.
The investigators will establish primary cultures of orbital fibroblasts from orbital adipose
tissue samples taken from six GO patients who underwent orbital decompressive surgery. Normal
orbital tissue samples will be collected from six patients undergoing eye surgery for
unrelated reasons.
Cell proliferation and HA will be measured using commercial assays DNA and RNA will be
extracted. HAS-1, HAS-2 and HAS-3 will be measured were assessed by Real Time-PCR Next
Generation Sequencing, Gene expression analysis and DNA methylation assays will be performed
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