Genetics and Epigenetics of Graves' Orbitopathy

Overview

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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Outcomes