{"id":10920,"date":"2019-08-02T14:06:30","date_gmt":"2019-08-02T12:06:30","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=10920"},"modified":"2019-08-02T14:06:30","modified_gmt":"2019-08-02T12:06:30","slug":"gene-of-the-month-july-araf","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-july-araf\/","title":{"rendered":"Gene of the Month &#8211; July: ARAF"},"content":{"rendered":"<p>A mutation in <em>ARAF<\/em> was discovered by US researchers as the genetic cause of a very rare and complex lymphatic anomaly and then served as the basis for developing a therapeutic approach. In <em>Nature Medicine<\/em>, the scientists report on the missense mutation in the <em>ARAF<\/em> gene, encoding a serine\/threonine kinase, which they found in two patients. One of their patients, a 12-year-old boy, showed an advanced anomalous lymphatic disease with severe accumulation of lymphatic fluid in his chest, pericardium, abdomen, lower extremities and genitalia. He presented also with shortness of breath and exercise intolerance.<\/p>\n<p>Further functional investigations revealed that the identified gain-of-function mutation led to elevated MEK-ERK1\/2 activity, increased lymphangiogenic capacity, and alterations in actin skeleton architecture and VE-cadherin junctions. These effects were rescued in transfected cells and in a zebrafish model by using the MEK inhibitor trametinib. The researchers then obtained clearance for off-label use of trametinib, an approved cancer drug, in the patient. At twelve months of therapy, the boy showed dramatic clinical improvement with remodeling of lymphatic vasculature, resolution of lymphatic edema and near normalization of regular daily activities.<\/p>\n[vc_column_text]Li D, March ME, Gutierrez-Uzquiza A, \u2026 Hakonarson H. ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor. <em>Nat Med.<\/em> 2019 Jul;25(7):1116-1122. doi: 10.1038\/s41591-019-0479-2.[\/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\/31263281&#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>A mutation in ARAF was discovered by US researchers as the genetic cause of a very rare and complex lymphatic anomaly and then served as the basis for developing a therapeutic approach. In Nature Medicine, the scientists report on the missense mutation in the ARAF gene, encoding a serine\/threonine kinase, which they found in two [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[54],"tags":[],"class_list":["post-10920","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 - July: ARAF - Institut f\u00fcr Humangenetik<\/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.humangenetik-umg.de\/en\/gene-of-the-month-july-araf\/\" \/>\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 - July: ARAF - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"A mutation in ARAF was discovered by US researchers as the genetic cause of a very rare and complex lymphatic anomaly and then served as the basis for developing a therapeutic approach. 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