{"id":12650,"date":"2022-11-01T14:19:52","date_gmt":"2022-11-01T13:19:52","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=12650"},"modified":"2023-02-01T16:31:05","modified_gmt":"2023-02-01T15:31:05","slug":"gene-of-the-month-october-atp5f1b","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-october-atp5f1b\/","title":{"rendered":"Gene of the Month &#8211; October: ATP5F1B"},"content":{"rendered":"<p>A heterozygous variant in <em>ATP5F1B<\/em> has been identified as causing a mitochondrial disease with failure to thrive despite excessive caloric intake. The results of a study published in <em>The New England Journal of Medicine<\/em> suggest that dysfunction of the encoded protein, ATP5F1B, loosens the coupling that exists between the proton gradient across the inner mitochondrial membrane in mitochondrial respiration and the formation of ATP.<\/p>\n<p>The researchers detected the <em>de novo<\/em> variant in <em>ATP5F1B<\/em> in monozygotic twins. The two boys did not gain weight despite excessive caloric intake. They showed tachypnea, intermittent hyperthermia and euthyroid hypermetabolism. Investigations performed on patient fibroblasts and CRISPR\/Cas9-engineered cellular models revealed decreased mitochondrial membrane potential and elevated oxygen consumption. The authors suggest that ATP5F1B dysfunction leads to greater flux of protons through complex V and less efficient ATP production. ATP5F1B forms a subunit of mitochondrial ATP synthase. This enzyme complex, which is also called complex V, is essential in mitochondrial oxidative phosphorylation and uses the proton gradient across the membrane to produce ATP.<\/p>\n[vc_column_text]Ganetzky RD, Markhard AL, Yee I, \u2026, Mootha VK. Congenital Hypermetabolism and Uncoupled Oxidative Phosphorylation. <em>N Engl J Med.<\/em> 2022 Oct 13;387(15):1395-1403. doi: 10.1056\/NEJMoa2202949. [\/vc_column_text]\n[mk_button dimension=&#8221;flat&#8221; size=&#8221;medium&#8221; icon=&#8221;mk-icon-long-arrow-right&#8221; icon_anim=&#8221;side&#8221; url=&#8221;https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/36239646&#8243; target=&#8221;_blank&#8221; bg_color=&#8221;#006699&#8243; btn_hover_bg=&#8221;#000000&#8243; btn_hover_txt_color=&#8221;#ffffff&#8221;]Article in PubMed[\/mk_button][mk_padding_divider size=&#8221;30&#8243;]\n","protected":false},"excerpt":{"rendered":"<p>A heterozygous variant in ATP5F1B has been identified as causing a mitochondrial disease with failure to thrive despite excessive caloric intake. The results of a study published in The New England Journal of Medicine suggest that dysfunction of the encoded protein, ATP5F1B, loosens the coupling that exists between the proton gradient across the inner mitochondrial [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[54],"tags":[],"class_list":["post-12650","post","type-post","status-publish","format-standard","hentry","category-gene-of-the-month"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Gene of the Month - October: ATP5F1B - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"description\" content=\"A heterozygous variant in ATP5F1B has been identified as causing a mitochondrial disease with failure to thrive despite excessive caloric intake.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-october-atp5f1b\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Gene of the Month - October: ATP5F1B - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"A heterozygous variant in ATP5F1B has been identified as causing a mitochondrial disease with failure to thrive despite excessive caloric intake.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-october-atp5f1b\/\" \/>\n<meta property=\"og:site_name\" content=\"Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"article:published_time\" content=\"2022-11-01T13:19:52+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2023-02-01T15:31:05+00:00\" \/>\n<meta name=\"author\" content=\"KB\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"KB\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"2 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-october-atp5f1b\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-october-atp5f1b\/\"},\"author\":{\"name\":\"KB\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675\"},\"headline\":\"Gene of the Month &#8211; 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