{"id":941,"date":"2016-10-31T19:39:08","date_gmt":"2016-10-31T19:39:08","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=941"},"modified":"2016-10-31T19:39:08","modified_gmt":"2016-10-31T19:39:08","slug":"acbd5-deficiency-causes-a-defect-in-peroxisomal-very-long-chain-fatty-acid-metabolism","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2016\/10\/31\/acbd5-deficiency-causes-a-defect-in-peroxisomal-very-long-chain-fatty-acid-metabolism\/","title":{"rendered":"ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism"},"content":{"rendered":"<p>A girl suffering from neurological symptoms and vision impairment showed an accumulation of very-long-chain fatty acids (VLCFAs). VLCFA are normally degraded in peroxisomes. In this paper we show that the VLCFA accumulation in the patient is due to a defect of the peroxisomal protein ACBD5. The patient had a homozygous mutation, resulting in the complete absence of ACBD5 protein. Functional ACBD5 could rescue the defect in cells of the patient. Our study revealed ACBD5 deficiency as a novel peroxisomal disorder resulting in VLCFA accumulation. (By Dr. Sacha Ferdinandusse, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2016\/10\/31\/jmedgenet-2016-104132\">http:\/\/jmg.bmj.com\/content\/early\/2016\/10\/31\/jmedgenet-2016-104132<\/a> )<\/p>\n<p><a href=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2016\/10\/ACBD5-IF-color-fig2B.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-942\" src=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2016\/10\/ACBD5-IF-color-fig2B-300x224.jpg\" alt=\"acbd5-if-color-fig2b\" width=\"300\" height=\"224\" srcset=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2016\/10\/ACBD5-IF-color-fig2B-300x224.jpg 300w, https:\/\/stg-blogs.bmj.com\/jmg\/files\/2016\/10\/ACBD5-IF-color-fig2B-768x573.jpg 768w, https:\/\/stg-blogs.bmj.com\/jmg\/files\/2016\/10\/ACBD5-IF-color-fig2B-1024x764.jpg 1024w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><\/p>\n<p>ACBD5 expression and localization in fibroblasts from the ACBD5-deficient patient and control subjects<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>A girl suffering from neurological symptoms and vision impairment showed an accumulation of very-long-chain fatty acids (VLCFAs). VLCFA are normally degraded in peroxisomes. In this paper we show that the VLCFA accumulation in the patient is due to a defect of the peroxisomal protein ACBD5. The patient had a homozygous mutation, resulting in the complete [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2016\/10\/31\/acbd5-deficiency-causes-a-defect-in-peroxisomal-very-long-chain-fatty-acid-metabolism\/\">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-941","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\/941","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=941"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/941\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=941"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=941"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=941"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}