{"id":1477,"date":"2020-06-09T16:23:41","date_gmt":"2020-06-09T16:23:41","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1477"},"modified":"2026-02-24T00:00:32","modified_gmt":"2026-02-24T00:00:32","slug":"nubpl-mitochondrial-disease-new-patients-and-review-of-the-genetic-and-clinical-spectrum","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2020\/06\/09\/nubpl-mitochondrial-disease-new-patients-and-review-of-the-genetic-and-clinical-spectrum\/","title":{"rendered":"NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum (Contributed by Dr. Peggy S. Eis)"},"content":{"rendered":"<p>Complex I deficiency is a mitochondrial disorder caused by mutations in 1 of 34 genes that encode proteins required to form the first large enzyme complex (complex I) of the energy-producing electron transport chain. In 2010, the first case of autosomal recessive <em>NUBPL<\/em> disease was reported. We report the clinical features and mutations in four new patients with <em>NUBPL<\/em> disease and summarize findings in all known cases (now eighteen worldwide). The disease begins in infancy with neurological impairments such as tremor, uncontrolled eye movements, and difficulties with sitting up, walking, and speech. Many patients are likely undiagnosed because a common mutation (~1% frequency in the European ancestry population) may be overlooked in clinical sequencing tests. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2020\/06\/09\/jmedgenet-2020-106846\">https:\/\/jmg.bmj.com\/content\/early\/2020\/06\/09\/jmedgenet-2020-106846<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/06\/09\/nubpl-mitochondrial-disease-new-patients-and-review-of-the-genetic-and-clinical-spectrum\/unnamed-5\/\" rel=\"attachment wp-att-1478\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1478\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/06\/unnamed-300x225.png\" alt=\"\" width=\"300\" height=\"225\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/06\/unnamed-300x225.png 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/06\/unnamed-768x576.png 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/06\/unnamed-640x480.png 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/06\/unnamed.png 948w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><\/p>\n<p>TWO NUBPL FAMILIES MEET FOR FIRST TIME, 2,000 MILES APART<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Complex I deficiency is a mitochondrial disorder caused by mutations in 1 of 34 genes that encode proteins required to form the first large enzyme complex (complex I) of the energy-producing electron transport chain. In 2010, the first case of autosomal recessive NUBPL disease was reported. We report the clinical features and mutations in four [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/06\/09\/nubpl-mitochondrial-disease-new-patients-and-review-of-the-genetic-and-clinical-spectrum\/\">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-1477","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>NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum (Contributed by Dr. Peggy S. Eis) - 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\/2020\/06\/09\/nubpl-mitochondrial-disease-new-patients-and-review-of-the-genetic-and-clinical-spectrum\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum (Contributed by Dr. Peggy S. Eis) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Complex I deficiency is a mitochondrial disorder caused by mutations in 1 of 34 genes that encode proteins required to form the first large enzyme complex (complex I) of the energy-producing electron transport chain. In 2010, the first case of autosomal recessive NUBPL disease was reported. We report the clinical features and mutations in four [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2020\/06\/09\/nubpl-mitochondrial-disease-new-patients-and-review-of-the-genetic-and-clinical-spectrum\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2020-06-09T16:23:41+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T00:00:32+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/06\/unnamed.png\" \/>\n\t<meta property=\"og:image:width\" content=\"948\" \/>\n\t<meta property=\"og:image:height\" content=\"711\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\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\\\/2020\\\/06\\\/09\\\/nubpl-mitochondrial-disease-new-patients-and-review-of-the-genetic-and-clinical-spectrum\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/06\\\/09\\\/nubpl-mitochondrial-disease-new-patients-and-review-of-the-genetic-and-clinical-spectrum\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum (Contributed by Dr. Peggy S. 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His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum (Contributed by Dr. Peggy S. 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