{"id":1312,"date":"2019-08-10T16:33:57","date_gmt":"2019-08-10T16:33:57","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1312"},"modified":"2026-02-24T00:34:24","modified_gmt":"2026-02-24T00:34:24","slug":"hypolipidaemia-among-patients-with-pmm2-cdg-is-associated-with-low-circulating-pcsk9-levels-a-case-report-followed-by-observational-and-experimental-studies","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2019\/08\/10\/hypolipidaemia-among-patients-with-pmm2-cdg-is-associated-with-low-circulating-pcsk9-levels-a-case-report-followed-by-observational-and-experimental-studies\/","title":{"rendered":"Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studies (Contributed by Michael Chong)"},"content":{"rendered":"<p>Low cholesterol is a common feature among patients with congenital disorders of glycosylation (CDG), but the exact underlying mechanisms remain unknown. We explored the role of proprotein convertase subtilisin\/kexin type 9 precursor (PCSK9), a major cholesterol regulator, in mediating low cholesterol among CDG patients. First, we describe a CDG patient with low circulating PCSK9 levels. Second, we verify this observation in 8 additional CDG patients. Third, we conduct experimental studies showing that loss of PCSK9 N-glycosylation reduces extracellular PCSK9 activity. Altogether, epidemiological and experimental findings suggest that PCSK9 may partially mediate low cholesterol among CDG patients. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2019\/08\/06\/jmedgenet-2019-106102\">https:\/\/jmg.bmj.com\/content\/early\/2019\/08\/06\/jmedgenet-2019-106102<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Low cholesterol is a common feature among patients with congenital disorders of glycosylation (CDG), but the exact underlying mechanisms remain unknown. We explored the role of proprotein convertase subtilisin\/kexin type 9 precursor (PCSK9), a major cholesterol regulator, in mediating low cholesterol among CDG patients. First, we describe a CDG patient with low circulating PCSK9 levels. [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/08\/10\/hypolipidaemia-among-patients-with-pmm2-cdg-is-associated-with-low-circulating-pcsk9-levels-a-case-report-followed-by-observational-and-experimental-studies\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1312","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studies (Contributed by Michael Chong) - JMG Contact blog<\/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:\/\/blogs.bmj.com\/jmg\/2019\/08\/10\/hypolipidaemia-among-patients-with-pmm2-cdg-is-associated-with-low-circulating-pcsk9-levels-a-case-report-followed-by-observational-and-experimental-studies\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studies (Contributed by Michael Chong) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Low cholesterol is a common feature among patients with congenital disorders of glycosylation (CDG), but the exact underlying mechanisms remain unknown. We explored the role of proprotein convertase subtilisin\/kexin type 9 precursor (PCSK9), a major cholesterol regulator, in mediating low cholesterol among CDG patients. First, we describe a CDG patient with low circulating PCSK9 levels. [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2019\/08\/10\/hypolipidaemia-among-patients-with-pmm2-cdg-is-associated-with-low-circulating-pcsk9-levels-a-case-report-followed-by-observational-and-experimental-studies\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2019-08-10T16:33:57+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T00:34:24+00:00\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/08\\\/10\\\/hypolipidaemia-among-patients-with-pmm2-cdg-is-associated-with-low-circulating-pcsk9-levels-a-case-report-followed-by-observational-and-experimental-studies\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/08\\\/10\\\/hypolipidaemia-among-patients-with-pmm2-cdg-is-associated-with-low-circulating-pcsk9-levels-a-case-report-followed-by-observational-and-experimental-studies\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studies (Contributed by Michael Chong)\",\"datePublished\":\"2019-08-10T16:33:57+00:00\",\"dateModified\":\"2026-02-24T00:34:24+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/08\\\/10\\\/hypolipidaemia-among-patients-with-pmm2-cdg-is-associated-with-low-circulating-pcsk9-levels-a-case-report-followed-by-observational-and-experimental-studies\\\/\"},\"wordCount\":129,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/08\\\/10\\\/hypolipidaemia-among-patients-with-pmm2-cdg-is-associated-with-low-circulating-pcsk9-levels-a-case-report-followed-by-observational-and-experimental-studies\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/08\\\/10\\\/hypolipidaemia-among-patients-with-pmm2-cdg-is-associated-with-low-circulating-pcsk9-levels-a-case-report-followed-by-observational-and-experimental-studies\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/08\\\/10\\\/hypolipidaemia-among-patients-with-pmm2-cdg-is-associated-with-low-circulating-pcsk9-levels-a-case-report-followed-by-observational-and-experimental-studies\\\/\",\"name\":\"Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studies (Contributed by Michael Chong) - 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