{"id":1026,"date":"2017-08-28T18:36:56","date_gmt":"2017-08-28T18:36:56","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=1026"},"modified":"2017-08-28T18:36:56","modified_gmt":"2017-08-28T18:36:56","slug":"hypothesis-lobe-a-cog1-4-cdg-causes-a-more-severe-phenotype-than-lobe-b-cog5-8-cdg","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2017\/08\/28\/hypothesis-lobe-a-cog1-4-cdg-causes-a-more-severe-phenotype-than-lobe-b-cog5-8-cdg\/","title":{"rendered":"Hypothesis: lobe A (COG1\u20134)-CDG causes a more severe phenotype than lobe B (COG5\u20138)-CDG"},"content":{"rendered":"<p>Some cellular components may be <em>more equal than others<\/em>. \u00a0In this study we used the frequency gap \u2013 underreporting of a certain phenomenon \u2013 to determine the relative importance of both A and B lobes for the functioning of a protein complex called \u201cthe COG complex&#8221;. \u00a0Two observations suggest that the consequences of lobe A dysfunction is more severe. First, patients with bi-allelic lobe A defects are underreported compared to lobe B defects. Second, deleterious variants in healthy adults are underreported in lobe A genes compared to lobe B genes. Much like driving a car is more hampered by a defective motor than by a defective gear case, comparable molecular defects are more detrimental in lobe A COG-CDG than in lobe B COG-CDG. (<em>By Hanneke A. Haijes-Siepel and Dr. Peter M. van Hasselt<\/em>, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2017\/08\/27\/jmedgenet-2017-104586\">http:\/\/jmg.bmj.com\/content\/early\/2017\/08\/27\/jmedgenet-2017-104586<\/a> )<\/p>\n<p><a href=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2017\/08\/Non-technical-summary-Figure-frequency-gap.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1027\" src=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2017\/08\/Non-technical-summary-Figure-frequency-gap-300x112.jpg\" alt=\"\" width=\"300\" height=\"112\" srcset=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2017\/08\/Non-technical-summary-Figure-frequency-gap-300x112.jpg 300w, https:\/\/stg-blogs.bmj.com\/jmg\/files\/2017\/08\/Non-technical-summary-Figure-frequency-gap-768x285.jpg 768w, https:\/\/stg-blogs.bmj.com\/jmg\/files\/2017\/08\/Non-technical-summary-Figure-frequency-gap-1024x381.jpg 1024w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Some cellular components may be more equal than others. \u00a0In this study we used the frequency gap \u2013 underreporting of a certain phenomenon \u2013 to determine the relative importance of both A and B lobes for the functioning of a protein complex called \u201cthe COG complex&#8221;. \u00a0Two observations suggest that the consequences of lobe A [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2017\/08\/28\/hypothesis-lobe-a-cog1-4-cdg-causes-a-more-severe-phenotype-than-lobe-b-cog5-8-cdg\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1026","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/1026","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=1026"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/1026\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=1026"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=1026"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=1026"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}