Ehlers-Danlos

Proteome profiling for hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders to unravel pathogenetic mechanisms and identify potential biomarkers supporting clinical diagnosis. – closed

Call for proposal: The Ehlers-Danlos Society call 2018

Role: Coordinator

Responsible per UniBS: Prof. Marina Colombi– Departement of Molecular and Translational Medicine

Contact: marina.colombi@unibs.it

Start date 09/05/2019 – End date 08/05/2020

Abstract

Hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders (hEDS/HSD) is the most common form of EDS, which is dominated by an extremely variable phenotype and a high rate of chronic disability. The etiology of hEDS/HSD is unknown, and patients are still without a definitive molecular diagnosis. Our previous studies demonstrated that hEDS/HSD fibroblasts exhibit a widespread extracellular matrix (ECM) disarray and significant expression changes of several genes involved in connective tissue architecture, and related to inflammatory, pain, and immune responses. These cells also show a proinflammatory matrix-degrading phenotype with a range of phenotypic features that are typical of myofibroblasts. Taking advantage from our cell model, in this project we plan to profile the proteome of hEDS/HSD patients’ dermal fibroblasts to identify specific proteomic signatures and perturbed biological processes that contribute to the pathophysiology of hEDS/HSD.

Participant
  • UNIVERSITA’ DEGLI STUDI DI BRESCIA (Coordinatore), Italy
  • UNIVERSITA’ DEGLI STUDI DI MILANO, Italy
  • IRCCS CASA SOLLIEVO DELLA SOFFERENZA DI SAN GIOVANNI ROTONDO, Italy

Total project cost: US$ 50,000.00

Overall funding assigned to UniBS: US$ 32,000.00

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