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AuthorMoura, Ronald Rodrigues
AuthorBrandão, Lucas
AuthorMoltrasio, Chiara
AuthorAgrelli, Almerinda
AuthorTricarico, Paola Maura
AuthorMaronese, Carlo Alberto
AuthorCrovella, Sergio
AuthorMarzano, Angelo Valerio
Available date2023-03-28T08:37:09Z
Publication Date2023-03-25
Publication NameScientific Reports
Identifierhttp://dx.doi.org/10.1038/s41598-023-31914-z
CitationMoura, R.R., Brandão, L., Moltrasio, C. et al. Different molecular pathways are disrupted in Pyoderma gangrenosum patients and are associated with the severity of the disease. Sci Rep 13, 4919 (2023). https://doi.org/10.1038/s41598-023-31914-z
URIhttp://hdl.handle.net/10576/41370
AbstractPyoderma gangrenosum (PG) is a rare inflammatory skin disease classified within the spectrum of neutrophilic dermatoses. The pathophysiology of PG is yet incompletely understood but a prominent role of genetics facilitating immune dysregulation has been proposed. This study investigated the potential contribution of disrupted molecular pathways in determining the susceptibility and clinical severity of PG. Variant Enrichment Analysis, a bioinformatic pipeline applicable for Whole Exome Sequencing data was performed in unrelated PG patients. Eleven patients were enrolled, including 5 with unilesional and 6 with multilesional PG. Fourteen pathways were exclusively enriched in the "multilesional" group, mainly related to immune system (i.e., type I interferon signaling pathway), cell metabolism and structural functions. In the "unilesional" group, nine pathways were found to be exclusively enriched, mostly related to cell signaling and cell metabolism. Genetically altered pathways involved in immune system biology and wound repair appear to be nodal pathogenic drivers in PG pathogenesis.
SponsorThis work was supported by a Biomolecular Analyses for Tailored Medicine in AcneiNversa (BATMAN) project, funded by ERA PerMed, by a grant from the Institute for Maternal and Child Health IRCCS ‘Burlo Garofolo/Italian Ministry of Health’ (RC16/2018), by a grant from Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico of Milan (Protocol No. 487_2020) and by Starting Grant (SG-2019- 12369421) founded by the Italian Ministry of Health.
Languageen
PublisherNature Research
SubjectPyoderma gangrenosum
Whole exome sequencing
bioinformatics
TitleDifferent molecular pathways are disrupted in Pyoderma gangrenosum patients and are associated with the severity of the disease.
TypeArticle
Volume Number13
ESSN2045-2322
dc.accessType Open Access


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