{"id":1895,"date":"2023-09-22T14:49:00","date_gmt":"2023-09-22T14:49:00","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1895"},"modified":"2026-02-22T23:54:26","modified_gmt":"2026-02-22T23:54:26","slug":"recessive-mecr-pathogenic-variants-cause-a-lhon-like-optic-neuropathy","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2023\/09\/22\/recessive-mecr-pathogenic-variants-cause-a-lhon-like-optic-neuropathy\/","title":{"rendered":"Recessive MECR pathogenic variants cause a LHON-like optic neuropathy (Contributed by Dr. Claudio Fiorini)"},"content":{"rendered":"<p>Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder characterized by subacute visual loss, typically linked to genetic defects affecting respiratory complex I genes. Here, we expand the genetic landscape of LHON by describing the first autosomal recessive case with pathogenic variants in the MECR gene. The MECR enzyme belongs to the mitochondrial fatty acid synthesis (mtFAS) pathway, thus breaking the paradigm that LHON is exclusively associated with complex I dysfunction. Last, the clinical course of the reported patients introduces the new feature of recurrence of visual loss, which does not occur in classic mtDNA-related LHON. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2023\/09\/20\/jmg-2023-109340\">https:\/\/jmg.bmj.com\/content\/early\/2023\/09\/20\/jmg-2023-109340<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder characterized by subacute visual loss, typically linked to genetic defects affecting respiratory complex I genes. Here, we expand the genetic landscape of LHON by describing the first autosomal recessive case with pathogenic variants in the MECR gene. The MECR enzyme belongs to the mitochondrial fatty acid [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/09\/22\/recessive-mecr-pathogenic-variants-cause-a-lhon-like-optic-neuropathy\/\">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-1895","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>Recessive MECR pathogenic variants cause a LHON-like optic neuropathy (Contributed by Dr. Claudio Fiorini) - 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\/2023\/09\/22\/recessive-mecr-pathogenic-variants-cause-a-lhon-like-optic-neuropathy\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Recessive MECR pathogenic variants cause a LHON-like optic neuropathy (Contributed by Dr. Claudio Fiorini) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder characterized by subacute visual loss, typically linked to genetic defects affecting respiratory complex I genes. Here, we expand the genetic landscape of LHON by describing the first autosomal recessive case with pathogenic variants in the MECR gene. The MECR enzyme belongs to the mitochondrial fatty acid [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2023\/09\/22\/recessive-mecr-pathogenic-variants-cause-a-lhon-like-optic-neuropathy\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2023-09-22T14:49:00+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T23:54:26+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\\\/2023\\\/09\\\/22\\\/recessive-mecr-pathogenic-variants-cause-a-lhon-like-optic-neuropathy\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/09\\\/22\\\/recessive-mecr-pathogenic-variants-cause-a-lhon-like-optic-neuropathy\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Recessive MECR pathogenic variants cause a LHON-like optic neuropathy (Contributed by Dr. Claudio Fiorini)\",\"datePublished\":\"2023-09-22T14:49:00+00:00\",\"dateModified\":\"2026-02-22T23:54:26+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/09\\\/22\\\/recessive-mecr-pathogenic-variants-cause-a-lhon-like-optic-neuropathy\\\/\"},\"wordCount\":118,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/09\\\/22\\\/recessive-mecr-pathogenic-variants-cause-a-lhon-like-optic-neuropathy\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/09\\\/22\\\/recessive-mecr-pathogenic-variants-cause-a-lhon-like-optic-neuropathy\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/09\\\/22\\\/recessive-mecr-pathogenic-variants-cause-a-lhon-like-optic-neuropathy\\\/\",\"name\":\"Recessive MECR pathogenic variants cause a LHON-like optic neuropathy (Contributed by Dr. Claudio Fiorini) - 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