{"id":693,"date":"2014-10-29T00:37:32","date_gmt":"2014-10-29T00:37:32","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=693"},"modified":"2026-02-25T19:37:51","modified_gmt":"2026-02-25T19:37:51","slug":"mutations-in-the-tricarboxylic-acid-cycle-enzyme-aconitase-2-cause-either-isolated-or-syndromic-optic-neuropathy-with-encephalopathy-and-cerebellar-atrophy","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2014\/10\/29\/mutations-in-the-tricarboxylic-acid-cycle-enzyme-aconitase-2-cause-either-isolated-or-syndromic-optic-neuropathy-with-encephalopathy-and-cerebellar-atrophy\/","title":{"rendered":"MUTATIONS IN THE TRICARBOXYLIC ACID CYCLE ENZYME, ACONITASE 2, CAUSE EITHER ISOLATED OR SYNDROMIC OPTIC NEUROPATHY WITH ENCEPHALOPATHY AND CEREBELLAR ATROPHY (Contributed by Dr. Agn\u00e8s R\u00f6tig)"},"content":{"rendered":"<p>Inherited optic neuropathy can be isolated or syndromic and are associated with mutations in genes encoding proteins involved in various mitochondrial functions. We identified mutations in <em>ACO2<\/em> encoding the mitochondrial aconitase, an enzyme of the tricarboxylic acid cycle, in five patients with optic atrophy isolated or associated with severe neurological signs. By using a yeast model we demonstrated that all these mutations were deleterious and observed a good correlation between severity of the clinical phenotype of patients and growth deficiency in yeast. These results illustrate the wide clinical expression associated with mutations in the same gene. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2014\/10\/28\/jmedgenet-2014-102532\">http:\/\/jmg.bmj.com\/content\/early\/2014\/10\/28\/jmedgenet-2014-102532<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/files\/2014\/10\/JMG_Blog_v2.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-694\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2014\/10\/JMG_Blog_v2-300x238.jpg\" alt=\"JMG_Blog_v2\" width=\"300\" height=\"238\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2014\/10\/JMG_Blog_v2-300x238.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2014\/10\/JMG_Blog_v2.jpg 705w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Inherited optic neuropathy can be isolated or syndromic and are associated with mutations in genes encoding proteins involved in various mitochondrial functions. We identified mutations in ACO2 encoding the mitochondrial aconitase, an enzyme of the tricarboxylic acid cycle, in five patients with optic atrophy isolated or associated with severe neurological signs. By using a yeast [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2014\/10\/29\/mutations-in-the-tricarboxylic-acid-cycle-enzyme-aconitase-2-cause-either-isolated-or-syndromic-optic-neuropathy-with-encephalopathy-and-cerebellar-atrophy\/\">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-693","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>MUTATIONS IN THE TRICARBOXYLIC ACID CYCLE ENZYME, ACONITASE 2, CAUSE EITHER ISOLATED OR SYNDROMIC OPTIC NEUROPATHY WITH ENCEPHALOPATHY AND CEREBELLAR ATROPHY (Contributed by Dr. Agn\u00e8s R\u00f6tig) - 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\/2014\/10\/29\/mutations-in-the-tricarboxylic-acid-cycle-enzyme-aconitase-2-cause-either-isolated-or-syndromic-optic-neuropathy-with-encephalopathy-and-cerebellar-atrophy\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"MUTATIONS IN THE TRICARBOXYLIC ACID CYCLE ENZYME, ACONITASE 2, CAUSE EITHER ISOLATED OR SYNDROMIC OPTIC NEUROPATHY WITH ENCEPHALOPATHY AND CEREBELLAR ATROPHY (Contributed by Dr. Agn\u00e8s R\u00f6tig) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Inherited optic neuropathy can be isolated or syndromic and are associated with mutations in genes encoding proteins involved in various mitochondrial functions. We identified mutations in ACO2 encoding the mitochondrial aconitase, an enzyme of the tricarboxylic acid cycle, in five patients with optic atrophy isolated or associated with severe neurological signs. By using a yeast [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2014\/10\/29\/mutations-in-the-tricarboxylic-acid-cycle-enzyme-aconitase-2-cause-either-isolated-or-syndromic-optic-neuropathy-with-encephalopathy-and-cerebellar-atrophy\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2014-10-29T00:37:32+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T19:37:51+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2014\/10\/JMG_Blog_v2.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"705\" \/>\n\t<meta property=\"og:image:height\" content=\"561\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\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\\\/2014\\\/10\\\/29\\\/mutations-in-the-tricarboxylic-acid-cycle-enzyme-aconitase-2-cause-either-isolated-or-syndromic-optic-neuropathy-with-encephalopathy-and-cerebellar-atrophy\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/10\\\/29\\\/mutations-in-the-tricarboxylic-acid-cycle-enzyme-aconitase-2-cause-either-isolated-or-syndromic-optic-neuropathy-with-encephalopathy-and-cerebellar-atrophy\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"MUTATIONS IN THE TRICARBOXYLIC ACID CYCLE ENZYME, ACONITASE 2, CAUSE EITHER ISOLATED OR SYNDROMIC OPTIC NEUROPATHY WITH ENCEPHALOPATHY AND CEREBELLAR ATROPHY (Contributed by Dr. Agn\u00e8s R\u00f6tig)\",\"datePublished\":\"2014-10-29T00:37:32+00:00\",\"dateModified\":\"2026-02-25T19:37:51+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/10\\\/29\\\/mutations-in-the-tricarboxylic-acid-cycle-enzyme-aconitase-2-cause-either-isolated-or-syndromic-optic-neuropathy-with-encephalopathy-and-cerebellar-atrophy\\\/\"},\"wordCount\":131,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/10\\\/29\\\/mutations-in-the-tricarboxylic-acid-cycle-enzyme-aconitase-2-cause-either-isolated-or-syndromic-optic-neuropathy-with-encephalopathy-and-cerebellar-atrophy\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2014\\\/10\\\/JMG_Blog_v2-300x238.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/10\\\/29\\\/mutations-in-the-tricarboxylic-acid-cycle-enzyme-aconitase-2-cause-either-isolated-or-syndromic-optic-neuropathy-with-encephalopathy-and-cerebellar-atrophy\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/10\\\/29\\\/mutations-in-the-tricarboxylic-acid-cycle-enzyme-aconitase-2-cause-either-isolated-or-syndromic-optic-neuropathy-with-encephalopathy-and-cerebellar-atrophy\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/10\\\/29\\\/mutations-in-the-tricarboxylic-acid-cycle-enzyme-aconitase-2-cause-either-isolated-or-syndromic-optic-neuropathy-with-encephalopathy-and-cerebellar-atrophy\\\/\",\"name\":\"MUTATIONS IN THE TRICARBOXYLIC ACID CYCLE ENZYME, ACONITASE 2, CAUSE EITHER ISOLATED OR SYNDROMIC OPTIC NEUROPATHY WITH ENCEPHALOPATHY AND CEREBELLAR ATROPHY (Contributed by Dr. Agn\u00e8s R\u00f6tig) - 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We identified mutations in ACO2 encoding the mitochondrial aconitase, an enzyme of the tricarboxylic acid cycle, in five patients with optic atrophy isolated or associated with severe neurological signs. 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