{"id":8555,"date":"2024-01-22T14:51:00","date_gmt":"2024-01-22T14:51:00","guid":{"rendered":"https:\/\/www.drfz.de\/news\/neue-genetische-ursache-fuer-lupus-gefunden\/"},"modified":"2025-02-06T14:52:47","modified_gmt":"2025-02-06T14:52:47","slug":"neue-genetische-ursache-fuer-lupus-gefunden","status":"publish","type":"post","link":"https:\/\/www.drfz.de\/en\/neuigkeiten\/neue-genetische-ursache-fuer-lupus-gefunden\/","title":{"rendered":"New genetic cause of lupus found"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\">Researchers led by Min Ae Lee-Kirsch from the Department of Paediatrics and Adolescent Medicine, Faculty of Medicine, Technische Universit\u00e4t Dresden and scientists from the Max Planck Institute for Infection Biology, in collaboration with colleagues from the DRFZ and Charit\u00e9-Universit\u00e4tsmedizin Berlin, have discovered gene mutations in the protein UNC93B1. This protein plays a crucial role both in the signalling pathways for virus defence and in the development of Systemic Lupus Erythematosus (SLE). The results of the study were published in the journal \u201c<em>Science Immunology<\/em>\u201c.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The mutations in the UNC93B1 gene induce selective overactivation of the toll-like receptor TLR7, which specifically recognises certain ribonucleic acids (RNA), especially those originating from viruses. The overactivation of TLR7 causes incorrect recognition of the body\u2019s own RNA, which triggers uncontrolled production of type 1 interferon and inflammatory processes. In parallel, the survival of self-reactive B cells is promoted, which produce autoantibodies against the body\u2019s own cell components and thus enhance the autoimmune reaction. Medical blockade of overactive TLR7 could therefore be therapeutically effective.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">It is also striking that people who lack functional UNC93B1 are susceptible to serious viral infections such as herpes simplex virus encephalitis or COVID-19. This observation emphasises the important role of UNC93B1 for a healthy immune system.<\/p>\n\n\n\n<div class=\"wp-block-buttons is-layout-flex wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/tu-dresden.de\/med\/mf\/die-fakultaet\/newsuebersicht\/fortgeschrittene-forschung-neue-genetische-erkenntnisse-zum-systemischen-lupus-erythe-matodes-eroeffnen-perspektiven-fuer-zukuenftige-therapieansaetze\" target=\"_blank\" rel=\"noreferrer noopener\">Press release TU Dresden\u00a0<\/a><\/div>\n<\/div>\n\n\n\n  <section id=\"block_bc1b7693a9235074861aac03cd90c370\" class=\"section links-list  alignwide \">\n    <div class=\"container container--center\">\n      \n      <div class=\"links-list__items-wrap\">\n        \n<div class=\"links-list__items links-list__items--row \">\n      <div class=\"links-list__item  launimation slideBottom\">\n      \n      <a href=\"https:\/\/www.science.org\/doi\/10.1126\/sciimmunol.adi9769\" target=\"_blank\" class=\"h6 links-list__item-title\">original publication<\/a>\n\n              <span class=\"links-list__item-underline\">Wolf C, Lim EL, Mokhtari M, Kind B, Odainic A, Lara-Villacanas E, Koss S, Mages S, Menzel K, Engel K, D\u00fcckers G, Bernbeck B, Schneider DT, Siepermann K, Niehues T, Goetzke CC, Durek P, Minden K, D\u00f6rner T, Stittrich A, Szelinski F, Guerra GM, Massoud M, Bieringer M, de Oliveira Mann CC, Beltr\u00e1n E, Kallinich T, Mashreghi MF, Schmidt SV, Latz E, Klughammer J, Majer O, Lee-Kirsch MA. UNC93B1 variants underlie TLR7-dependent autoimmunity. Sci Immunol. 2024 Jan 11:eadi9769. doi: 10.1126\/sciimmunol.adi9769. Epub ahead of print. PMID: 38207055.<\/span>\n      \n      <a href=\"https:\/\/www.science.org\/doi\/10.1126\/sciimmunol.adi9769\" target=\"_blank\" class=\"links-list__item-link\">\n        <span class=\"button button--arrow button--arrow-nw button--arrow-link\" ><\/span>\n      <\/a>\n    <\/div>\n  <\/div>\n      <\/div>\n    <\/div>\n  <\/section>\n\n","protected":false},"excerpt":{"rendered":"<p>Researchers led by Min Ae Lee-Kirsch from the Department of Paediatrics and Adolescent Medicine, Faculty of Medicine, Technische Universit\u00e4t Dresden and scientists from the Max\u2026<\/p>\n","protected":false},"author":9,"featured_media":4699,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[288,291],"tags":[],"programme-area-tax":[],"working-group-tax":[],"class_list":["post-8555","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-for-patients","category-publications"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.3 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>New genetic cause of lupus found - DRFZ<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.drfz.de\/en\/neuigkeiten\/neue-genetische-ursache-fuer-lupus-gefunden\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta 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