{"id":11156,"date":"2019-10-04T15:31:24","date_gmt":"2019-10-04T13:31:24","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=11156"},"modified":"2019-10-04T15:31:24","modified_gmt":"2019-10-04T13:31:24","slug":"gene-of-the-month-september-mesd","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-september-mesd\/","title":{"rendered":"Gene of the Month &#8211; September: MESD"},"content":{"rendered":"<p>A recent study reports on the <em>MESD<\/em> gene as a novel disease gene associated with the condition of brittle bone disease, or osteogenesis imperfecta (OI). In this study, an international group of researchers led by scientists of the Institute of Human Genetics at G\u00f6ttingen establish for the first time a link between <em>MESD<\/em> and a human disease. OI comprises a heterogeneous group of disorders characterized by bone fragility. The researchers investigated five unrelated families with a severe, progressive deforming type of OI whose affected members had multiple fractures and at least one had dental anomalies, and they identified homozygous mutations in <em>MESD<\/em> as the causative genetic defect. MESD serves in the endoplasmatic reticulum as a chaperone protein for the WNT signaling receptors LRP5 and LRP6 and assists their correct folding and trafficking to the cell membrane.<\/p>\n<p>Subsequent functional analyses showed that, due to their position, the mutations did not entail full loss of MESD protein function, but they significantly reduced it. In the light of the clinical phenotypes described for humans and mice that are completely deficient of LRP5 or LRP6, the authors suggest that the cellular processes involved in bone mass accrual and dental patterning are especially sensible to reduced canonical WNT signaling. Increasing LRP5\/LRP6-mediated WNT signaling by biological agents might therefore be a potential future strategy to treat patients with MESD-associated osteogenesis imperfecta.<\/p>\n<p>The results of the studies were published in <em>The American Journal of Human Genetics<\/em>.<\/p>\n[vc_column_text] Moosa S, Yamamoto GL, Garbes L, \u2026, Wollnik B, Netzer C. Autosomal Recessive Mutations in MESD Cause Osteogenesis Imperfecta. Am J Hum Genet. 2019 Sep 20. pii: S0002-9297(19)30312-X. doi: 10.1016\/j.ajhg.2019.08.008. [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\/31564437&#8243; target=&#8221;_blank&#8221; bg_color=&#8221;#006699&#8243; btn_hover_bg=&#8221;#000000&#8243; btn_hover_txt_color=&#8221;#ffffff&#8221;]To Article in PubMed[\/mk_button][mk_padding_divider size=&#8221;30&#8243;]\n","protected":false},"excerpt":{"rendered":"<p>A recent study reports on the MESD gene as a novel disease gene associated with the condition of brittle bone disease, or osteogenesis imperfecta (OI). In this study, an international group of researchers led by scientists of the Institute of Human Genetics at G\u00f6ttingen establish for the first time a link between MESD and a [&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-11156","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 - September: MESD - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"description\" content=\"A recent study reports on MESD as a novel gene associated with osteogenesis imperfecta and indicates potential future approach to treat patients.\" \/>\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-september-mesd\/\" \/>\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 - September: MESD - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"A recent study reports on MESD as a novel gene associated with osteogenesis imperfecta and indicates potential future approach to treat patients.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-september-mesd\/\" \/>\n<meta property=\"og:site_name\" content=\"Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"article:published_time\" content=\"2019-10-04T13:31:24+00:00\" \/>\n<meta name=\"author\" content=\"KB\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"KB\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"2 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-september-mesd\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-september-mesd\/\"},\"author\":{\"name\":\"KB\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675\"},\"headline\":\"Gene of the Month &#8211; 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