{"id":12496,"date":"2022-06-01T14:16:43","date_gmt":"2022-06-01T12:16:43","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=12496"},"modified":"2022-06-01T14:16:43","modified_gmt":"2022-06-01T12:16:43","slug":"gene-of-the-month-may-rrm1","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-may-rrm1\/","title":{"rendered":"Gene of the Month &#8211; May: RRM1"},"content":{"rendered":"<p>Variants in the <em>RRM1<\/em> gene may underlie a disorder that is caused by defective processes of mitochondrial DNA (mtDNA) replication and repair. The protein encoded by <em>RRM1<\/em>, ribonucleotide reductase catalytic subunit M1, forms an essential regulatory part of ribonucleotide reductase. This enzyme catalyzes the production of deoxyribonucleotides &#8211; the units that are needed by the organism for DNA synthesis and repair.<\/p>\n<p>An international network of researchers identified autosomal dominant as well as autosomal recessive disease-causing <em>RRM1<\/em> variants in five patients from four families. Their patients showed a clinical presentation of a mitochondrial DNA depletion syndrome (MDDS), with ptosis (drooping eyelid) and ophthalmoplegia (eye muscle weakness), additional manifestations and multiple mtDNA deletions in muscle. Further cellular experiments and biochemical investigations performed in the study suggest that the decreased level of mtDNA present in the patients&#8217; cells is caused by an impaired nucleotide synthesis due to the loss of RRM1 protein.<\/p>\n<p>The results of the study were published in the <em>Journal of Clinical Investigation<\/em>.<\/p>\n[vc_column_text] Shintaku J, Pernice WM, Eyaid W, \u2026 Hirano M. RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis.<em> J Clin Invest.<\/em> 2022 May 26:e145660. doi: 10.1172\/JCI145660. Epub ahead of print. [\/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\/35617047&#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>Variants in the RRM1 gene may underlie a disorder that is caused by defective processes of mitochondrial DNA (mtDNA) replication and repair. The protein encoded by RRM1, ribonucleotide reductase catalytic subunit M1, forms an essential regulatory part of ribonucleotide reductase. This enzyme catalyzes the production of deoxyribonucleotides &#8211; the units that are needed by the [&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-12496","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 - May: RRM1 - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"description\" content=\"Variants in the RRM1 gene may underlie a disorder that is caused by defective processes of mitochondrial DNA (mtDNA) replication and repair.\" \/>\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-may-rrm1\/\" \/>\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 - May: RRM1 - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"Variants in the RRM1 gene may underlie a disorder that is caused by defective processes of mitochondrial DNA (mtDNA) replication and repair.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-may-rrm1\/\" \/>\n<meta property=\"og:site_name\" content=\"Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"article:published_time\" content=\"2022-06-01T12:16:43+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-may-rrm1\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-may-rrm1\/\"},\"author\":{\"name\":\"KB\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/2273960540ea0d585310d12c8277e5cb\"},\"headline\":\"Gene of the Month &#8211; 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