{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T14:11:22Z","timestamp":1768313482121,"version":"3.49.0"},"reference-count":143,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2021,8,5]],"date-time":"2021-08-05T00:00:00Z","timestamp":1628121600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004571","name":"Minist\u00e8re des Affaires Sociales et de la Sant\u00e9","doi-asserted-by":"publisher","award":["12-027-0309"],"award-info":[{"award-number":["12-027-0309"]}],"id":[{"id":"10.13039\/501100004571","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Sarcoidosis is a multisystem disease characterized by the development and accumulation of granulomas, the hallmark of an inflammatory process induced by environmental and\/or infectious and or genetic factors. This auto-inflammatory disease mainly affects the lungs, the gateway to environmental aggressions and viral infections. We have shown previously that genetic predisposition to sarcoidosis occurring in familial cases is related to a large spectrum of pathogenic variants with, however, a clustering around mTOR (mammalian Target Of Rapamycin)-related pathways and autophagy regulation. The context of the COVID-19 pandemic led us to evaluate whether such genetic defects may increase the risk of a severe course of SARS-CoV2 infection in patients with sarcoidosis. We extended a whole exome screening to 13 families predisposed to sarcoidosis and crossed the genes sharing mutations with the list of genes involved in the SARS-CoV2 host-pathogen protein-protein interactome. A similar analysis protocol was applied to a series of 100 healthy individuals. Using ENRICH.R, a comprehensive gene set enrichment web server, we identified the functional pathways represented in the set of genes carrying deleterious mutations and confirmed the overrepresentation of autophagy- and mitophagy-related functions in familial cases of sarcoidosis. The same protocol was applied to the set of genes common to sarcoidosis and the SARS-CoV2-host interactome and found a significant enrichment of genes related to mitochondrial factors involved in autophagy, mitophagy, and RIG-I-like (Retinoic Acid Inducible Gene 1) Receptor antiviral response signaling. From these results, we discuss the hypothesis according to which sarcoidosis is a model for studying genetic abnormalities associated with host response to viral infections as a consequence of defects in autophagy and mitophagy processes.<\/jats:p>","DOI":"10.3390\/cells10081995","type":"journal-article","created":{"date-parts":[[2021,8,5]],"date-time":"2021-08-05T21:43:53Z","timestamp":1628199833000},"page":"1995","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Autophagy and Mitophagy-Related Pathways at the Crossroads of Genetic Pathways Involved in Familial Sarcoidosis and Host-Pathogen Interactions Induced by Coronaviruses"],"prefix":"10.3390","volume":"10","author":[{"given":"Yves","family":"Pacheco","sequence":"first","affiliation":[{"name":"Laboratory of Tissue Biology and Therapeutic Engineering, CNRS UMR5305, Claude Bernard University Lyon I, IBCP, 69007 Lyon, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dominique","family":"Valeyre","sequence":"additional","affiliation":[{"name":"UMR INSERM 1272, University Sorbonne Paris Nord, Hospital Paris-Saint Joseph, 75014 Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"El Jammal","sequence":"additional","affiliation":[{"name":"Laboratory of Tissue Biology and Therapeutic Engineering, CNRS UMR5305, Claude Bernard University Lyon I, IBCP, 69007 Lyon, France"},{"name":"Department of Internal Medicine, Lyon University Hospital, 69007 Lyon, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maxime","family":"Vallee","sequence":"additional","affiliation":[{"name":"Department of Bioinformatics, Hospices Civils de Lyon, 69007 Lyon, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabien","family":"Chevalier","sequence":"additional","affiliation":[{"name":"Laboratory of Tissue Biology and Therapeutic Engineering, CNRS UMR5305, Claude Bernard University Lyon I, IBCP, 69007 Lyon, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00e9r\u00f4me","family":"Lamartine","sequence":"additional","affiliation":[{"name":"Laboratory of Tissue Biology and Therapeutic Engineering, CNRS UMR5305, Claude Bernard University Lyon I, IBCP, 69007 Lyon, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dominique","family":"Sigaudo-Roussel","sequence":"additional","affiliation":[{"name":"Laboratory of Tissue Biology and Therapeutic Engineering, CNRS UMR5305, Claude Bernard University Lyon I, IBCP, 69007 Lyon, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8478-7095","authenticated-orcid":false,"given":"Bernard","family":"Verrier","sequence":"additional","affiliation":[{"name":"Laboratory of Tissue Biology and Therapeutic Engineering, CNRS UMR5305, Claude Bernard University Lyon I, IBCP, 69007 Lyon, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dominique","family":"Israel-Biet","sequence":"additional","affiliation":[{"name":"Department of Pulmonology AP-HP, Georges Pompidou European Hospital, 75014 Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathalie","family":"Freymond","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine, Hospices Civils de Lyon, Lyon South Hospital, 69007 Lyon, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincent","family":"Cottin","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine, Hospices Civils de Lyon, National Reference Centre for Rare Pulmonary Diseases, Louis Pradel Hospital, Claude-Bernard Lyon 1, 69007 Lyon, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alain","family":"Calender","sequence":"additional","affiliation":[{"name":"Laboratory of Tissue Biology and Therapeutic Engineering, CNRS UMR5305, Claude Bernard University Lyon I, IBCP, 69007 Lyon, France"},{"name":"Department of Genetics, Hospices Civils de Lyon, University Claude Bernard Lyon 1, 69500 Bron, France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,8,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1038\/s41572-019-0096-x","article-title":"Sarcoidosis","volume":"5","author":"Grunewald","year":"2019","journal-title":"Nat. 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