{"id":13272,"date":"2024-01-05T13:17:03","date_gmt":"2024-01-05T12:17:03","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=13272"},"modified":"2024-01-05T13:17:03","modified_gmt":"2024-01-05T12:17:03","slug":"gene-of-the-month-december-ccr2","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-december-ccr2\/","title":{"rendered":"Gene of the Month \u2013 December: CCR2"},"content":{"rendered":"<p>Identification of biallelic variants in the <em>CCR2<\/em> gene and subsequent functional investigations revealed a previously undescribed mechanism leading to a complex and progressive lung disease. An international study recently published in <em>Cell<\/em> identified disease-causing variants in <em>CCR2<\/em> in nine children with pulmonary alveolar proteinosis, a rare lung disease, associated with chronic inflammation and recurrent infections. The homozygous and compound heterozygous <em>CCR2<\/em> variations cause a complete loss of the encoded protein\u2019s function.<\/p>\n<p>CCR2, a receptor protein, is mainly expressed on monocytes and binds the chemokine CCL2. This binding activates a signaling cascade important for recruiting monocytes to infected or injured tissue and for maturation of macrophages as essential parts of the innate immune system. The researchers found that the identified <em>CCR2<\/em> variants impair migration of monocytes and thus reduce the number of mature macrophages in the lungs. From the results of their investigations they conclude that CCR2 deficiency was responsible for the high concentrations of CCL2 determined in their patients. A high CCL2 blood level might thus provide a diagnostic test for children with unexplained lung disease.<\/p>\n[vc_column_text] Neehus AL, Carey B, Landekic M \u2026 Bustamante J. Human inherited CCR2 de\ufb01ciency underlies progressive polycystic lung disease. <em>Cell<\/em>. 2023 Dec 20:S0092-8674(23)01323-5. doi: 10.1016\/j.cell.2023.11.036. Epub ahead of print. [\/vc_column_text]\n[mk_button dimension=&#8221;flat&#8221; size=&#8221;medium&#8221; icon=&#8221;mk-icon-long-arrow-right&#8221; icon_anim=&#8221;side&#8221; url=&#8221;https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/38157855&#8243; target=&#8221;_blank&#8221; bg_color=&#8221;#006699&#8243; btn_hover_bg=&#8221;#000000&#8243; btn_hover_txt_color=&#8221;#ffffff&#8221;]Article in PubMed[\/mk_button][mk_padding_divider size=&#8221;30&#8243;]\n","protected":false},"excerpt":{"rendered":"<p>Identification of biallelic variants in the CCR2 gene and subsequent functional investigations revealed a previously undescribed mechanism leading to a complex and progressive lung disease. An international study recently published in Cell identified disease-causing variants in CCR2 in nine children with pulmonary alveolar proteinosis, a rare lung disease, associated with chronic inflammation and recurrent infections. [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[54],"tags":[],"class_list":["post-13272","post","type-post","status-publish","format-standard","hentry","category-gene-of-the-month"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Gene of the Month \u2013 December: CCR2 - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"description\" content=\"Biallelic variants in the CCR2 gene underlie a previously undescribed mechanism leading to a complex and progressive lung disease.\" \/>\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.humangenetik-umg.de\/en\/gene-of-the-month-december-ccr2\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Gene of the Month \u2013 December: CCR2 - 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