{"id":113330,"date":"2022-07-12T03:00:18","date_gmt":"2022-07-12T01:00:18","guid":{"rendered":"https:\/\/www.cde.ual.es\/?p=113330"},"modified":"2022-07-11T11:47:51","modified_gmt":"2022-07-11T09:47:51","slug":"la-predisposicion-genetica-a-las-infecciones-bacterianas","status":"publish","type":"post","link":"https:\/\/www.cde.ual.es\/en\/la-predisposicion-genetica-a-las-infecciones-bacterianas\/","title":{"rendered":"Genetic predisposition to bacterial infections"},"content":{"rendered":"<p><a href=\"https:\/\/www.cde.ual.es\/wp-content\/uploads\/2022\/07\/cdc-LiNIONbajm4-unsplash-scaled.jpg\"><img decoding=\"async\" class=\" wp-image-113318 aligncenter\" src=\"https:\/\/www.cde.ual.es\/wp-content\/uploads\/2022\/07\/cdc-LiNIONbajm4-unsplash-scaled.jpg\" alt=\"\" width=\"500\" height=\"333\" srcset=\"https:\/\/www.cde.ual.es\/wp-content\/uploads\/2022\/07\/cdc-LiNIONbajm4-unsplash-scaled.jpg 2560w, https:\/\/www.cde.ual.es\/wp-content\/uploads\/2022\/07\/cdc-LiNIONbajm4-unsplash-300x200.jpg 300w, https:\/\/www.cde.ual.es\/wp-content\/uploads\/2022\/07\/cdc-LiNIONbajm4-unsplash-1024x683.jpg 1024w, https:\/\/www.cde.ual.es\/wp-content\/uploads\/2022\/07\/cdc-LiNIONbajm4-unsplash-768x512.jpg 768w, https:\/\/www.cde.ual.es\/wp-content\/uploads\/2022\/07\/cdc-LiNIONbajm4-unsplash-1536x1024.jpg 1536w, https:\/\/www.cde.ual.es\/wp-content\/uploads\/2022\/07\/cdc-LiNIONbajm4-unsplash-2048x1365.jpg 2048w\" sizes=\"(max-width: 500px) 100vw, 500px\" \/><\/a><\/p>\n<p style=\"text-align: justify;\">We know that we inherit features from our parents and genetic diseases too. European researchers now demonstrate that our DNA also predisposes us to severe bacterial infections.<\/p>\n<div class=\"ng-star-inserted\" style=\"text-align: justify;\">\n<div class=\"ng-star-inserted\" style=\"text-align: justify;\">\n<p class=\"c-article__text\"><a href=\"https:\/\/www.nejm.org\/doi\/full\/10.1056\/NEJM199808203390806\">Staphylococcus aureus<\/a> is a pathogen that can lead to a variety of clinical manifestations. Although it typically causes common, superficial infections, some people suffer from severe, life-threatening infections. No vaccine is available, and treatment of infections can be challenging due to the emergence of drug resistant strains such as methicillin-resistant S. aureus (MRSA).<\/p>\n<\/div>\n<div class=\"ng-star-inserted\">\n<h3 class=\"c-article__title\" style=\"text-align: justify;\">Genetic predisposition to S. aureus infections<\/h3>\n<p class=\"c-article__text\" style=\"text-align: justify;\">Certain risk factors predispose to severe S. aureus infections, but collectively explain only a few cases. Therefore, scientists of the HGB-StIC project were interested in determining underlying genetic factors that could predispose otherwise healthy individuals to severe staphylococcal disease. Research was undertaken with the support of the <a href=\"https:\/\/ec.europa.eu\/research\/mariecurieactions\/node_en\">Marie Sk\u0142odowska-Curie Actions<\/a> (MSCA) programme. \u201cOur society\u2019s challenge of antimicrobial resistance requires an approach that innovatively fuses clinical practice and fundamental sciences,\u201d highlights the MSCA research fellow Andras Spaan. Spaan and his team aimed to dissect the human genetic basis of severe bacterial infections and unravel host-pathogen interactions at the molecular, cellular, tissue and whole-organism levels. For this purpose, they integrated cutting-edge human genetic strategies with in-depth functional studies.<\/p>\n<\/div>\n<table style=\"width: 99.9988%; border-collapse: collapse; border-style: double; border-color: #001f7d;\" cellpadding=\"0,5\">\n<tbody>\n<tr>\n<td style=\"width: 100%;\"><a href=\"https:\/\/www.cde.ual.es\/en\/antimicrobial-resistance-in-the-eu-infections-with-foodborne-bacteria-becoming-harder-to-treat\/\"><img decoding=\"async\" class=\"alignleft\" src=\"https:\/\/www.cde.ual.es\/wp-content\/uploads\/2020\/03\/bacteria-3658992_640.jpg\" alt=\"\" width=\"201\" height=\"134\" \/><\/a><\/p>\n<h4 class=\"entry-title\"><a href=\"https:\/\/www.cde.ual.es\/en\/antimicrobial-resistance-in-the-eu-infections-with-foodborne-bacteria-becoming-harder-to-treat\/\" target=\"_blank\" rel=\"noopener\">Antimicrobial resistance in the EU: infections with foodborne bacteria becoming harder to treat<\/a><\/h4>\n<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n<div class=\"ng-star-inserted\" style=\"text-align: justify;\">\n<p>&nbsp;<\/p>\n<\/div>\n<div class=\"ng-star-inserted\" style=\"text-align: justify;\">\n<div class=\"ng-star-inserted\">\n<h3 class=\"c-article__title\">OTULIN: an enzyme with a role in immunity<\/h3>\n<p class=\"c-article__text\">Spaan screened for genetic homogeneity in a cohort of patients with unexplained life-threatening staphylococcal disease. The team discovered a genome-wide enrichment for heterozygous <a href=\"https:\/\/www.uniprot.org\/uniprot\/Q96BN8\" target=\"_blank\" rel=\"noopener\">OTULIN<\/a> variants in patients with severe staphylococcal disease. OTULIN is an enzyme encoded by a gene located on chromosome 5p. OTULIN is a negative regulator of the NF-\u03baB-signalling pathway which acts on innate and adaptive immune responses, mediating inflammatory responses. Biallelic OTULIN mutations cause an early onset <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC5018768\/\" target=\"_blank\" rel=\"noopener\">autoinflammatory condition<\/a>. The patients carrying heterozygous OTULIN mutations described by Spaan suffered from life-threatening skin or pulmonary necrosis. Their disease was typically triggered by S. aureus infections and occurred from adolescence onwards.<\/p>\n<\/div>\n<div class=\"ng-star-inserted\">\n<h3 class=\"c-article__title\">OTULIN as a novel determinant of staphylococcal disease<\/h3>\n<p class=\"c-article__text\">The loss of one functional copy of the OTULIN gene leads to a condition known as haploinsufficiency where the amount of enzyme produced by the functional gene is not enough. The study led by Spaan suggests that people with a genetic condition known as 5p- (or Cri-du-chat) syndrome may be at a similar risk. The researchers found that blood leukocyte subsets in OTULIN-haploinsufficient patients were unaffected. Surprisingly, they <a href=\"https:\/\/www.science.org\/doi\/10.1126\/science.abm6380?url_ver=Z39.88-2003&amp;rfr_id=ori:rid:crossref.org&amp;rfr_dat=cr_pub%20%200pubmed\" target=\"_blank\" rel=\"noopener\">discovered<\/a> that OTULIN haploinsufficiency disrupts cell-intrinsic immunity of non-hematopoietic cells against the staphylococcal virulence factor alpha-toxin. Not all individuals with OTULIN haploinsufficiency will get severe infections. These people may have high levels of naturally elicited alpha-toxin-neutralising antibodies and thus be protected by a compensatory mechanism. \u201cOur growing global failure to treat infections could effectively mean the end of modern medicine as we know it. Genetic studies in patients who suffer from severe infectious diseases will provide a better understanding of this predisposition on a molecular level and help us to identify innovative and personalised strategies to treat infectious diseases,\u201d concludes Spaan.<\/p>\n<\/div>\n<\/div>\n<div class=\"ng-star-inserted\">\n<h3>Source<\/h3>\n<p><a href=\"https:\/\/cordis.europa.eu\/article\/id\/436604-genetic-predisposition-to-bacterial-infections\" target=\"_blank\" rel=\"noopener\"><strong>European Commission \u2014 CORDIS<\/strong><\/a><\/p>\n<\/div>\n","protected":false},"excerpt":{"rendered":"<p>We know that we inherit features from our parents and genetic diseases too. European researchers now demonstrate that our DNA also predisposes us to severe bacterial infections. Staphylococcus aureus is a pathogen that can lead to a variety of clinical manifestations. Although it typically causes common, superficial infections, some people suffer from severe, life-threatening infections. [&hellip;]<\/p>\n","protected":false},"author":101011,"featured_media":113319,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_relevanssi_hide_post":"","_relevanssi_hide_content":"","_relevanssi_pin_for_all":"","_relevanssi_pin_keywords":"","_relevanssi_unpin_keywords":"","_relevanssi_related_keywords":"","_relevanssi_related_include_ids":"","_relevanssi_related_exclude_ids":"","_relevanssi_related_no_append":"","_relevanssi_related_not_related":"","_relevanssi_related_posts":"","_relevanssi_noindex_reason":"","_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"_genesis_hide_title":false,"_genesis_hide_breadcrumbs":false,"_genesis_hide_singular_image":false,"_genesis_hide_footer_widgets":false,"_genesis_custom_body_class":"","_genesis_custom_post_class":"","_genesis_layout":"","footnotes":""},"categories":[4093,346,4092],"tags":[6643,6642,6644,2864,6645,6641],"class_list":{"0":"post-113330","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-diseases","8":"category-eu-news","9":"category-health","10":"tag-alpha-toxin","11":"tag-haploinsufficiency","12":"tag-hgb-stic-en","13":"tag-immunity","14":"tag-otulin-en","15":"tag-s-aureus","16":"entry"},"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.3 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Genetic predisposition to bacterial infections | CDE Almer\u00eda - Centro de Documentaci\u00f3n Europea - Universidad de Almer\u00eda<\/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.cde.ual.es\/?p=113314\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Genetic predisposition to bacterial infections | CDE Almer\u00eda - Centro de Documentaci\u00f3n Europea - Universidad de Almer\u00eda\" \/>\n<meta property=\"og:description\" content=\"We know that we inherit features from our parents and genetic diseases too. European researchers now demonstrate that our DNA also predisposes us to severe bacterial infections. Staphylococcus aureus is a pathogen that can lead to a variety of clinical manifestations. Although it typically causes common, superficial infections, some people suffer from severe, life-threatening infections. 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