{"id":3089,"date":"2021-02-27T12:02:00","date_gmt":"2021-02-27T11:02:00","guid":{"rendered":"https:\/\/www.adntro.com\/?p=3089"},"modified":"2025-08-04T12:07:35","modified_gmt":"2025-08-04T10:07:35","slug":"como-de-frecuente-son-las-enfermedades-raras","status":"publish","type":"post","link":"https:\/\/adntro.com\/en\/blog\/genetic-curiosities\/how-often-are-rare-diseases\/","title":{"rendered":"How common are rare diseases?"},"content":{"rendered":"<p>As we know, genes contain the information for the manufacture of all the proteins in our body. Among them, there are proteins called ubiquitin ligases...<\/p>\n\n\n\n<div style=\"height:10px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img fetchpriority=\"high\" decoding=\"async\" width=\"395\" height=\"196\" src=\"http:\/\/adntro.com\/wp-content\/uploads\/2021\/08\/ubiquitinacion-proteosoma.png\" alt=\"ubiquitination\" class=\"wp-image-3380\" srcset=\"https:\/\/adntro.com\/wp-content\/uploads\/2021\/08\/ubiquitinacion-proteosoma.png 395w, https:\/\/adntro.com\/wp-content\/uploads\/2021\/08\/ubiquitinacion-proteosoma-300x149.png 300w, https:\/\/adntro.com\/wp-content\/uploads\/2021\/08\/ubiquitinacion-proteosoma-18x9.png 18w\" sizes=\"(max-width: 395px) 100vw, 395px\" \/><\/figure>\n<\/div>\n\n\n<p>There are many human genetic diseases caused by the appearance of pathogenic variants in genes that encode these ubiquitins. And within this huge family of genes, we are going to highlight one of them, the gene <em>RNF125<\/em>, which until a few years ago, had not been linked to any disease.<\/p>\n\n\n\n<div style=\"height:10px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>However, next-generation sequencing or parallel mass sequencing (NGS) studies<em>us to study our DNA from different strategies,<\/em>\u201d) Has made it possible to identify several families with variants in this gene, which present clinical characteristics common to all of them, among which the following stand out: postnatal overgrowth, neonatal hypoglycemia, recurrent inflammatory diseases, neurodevelopmental alterations and characteristic clinical facial characteristics.<\/p>\n\n\n\n<div style=\"height:10px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>This disease, caused by mutations in the gene <em>RNF125<\/em>, is currently known as <strong><em><a href=\"https:\/\/elpais.com\/ciencia\/2021-11-17\/el-sindrome-de-tenorio-una-enfermedad-nueva-con-21-pacientes-conocidos.html\">Tenorio syndrome<\/a><\/em><\/strong>, name coined by John Hopkins University and the McKusick-Nathans department of genetic medicine in honor of the group of researchers and specifically the first author of the original publication.<\/p>\n\n\n\n<div style=\"height:10px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>Currently, there are approximately some <strong>19 cases worldwide<\/strong>, which implies great importance to give visibility to this type of <strong>rare diseases<\/strong>. The knowledge generated by genetic research is fascinating, as demonstrated in the description of this new disease.<br><\/br>If you would like to learn more about your own <a href=\"https:\/\/adntro.com\/en\/dna-kit\/genetic-test-diseases\/\">disease susceptibility based on your DNA, consider our report.<\/a><\/p>\n\n\n\n<div style=\"height:10px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>Find out what you're wearing WITHIN with our <a href=\"https:\/\/adntro.com\/en\/\">DNA testing<\/a>!<\/p>\n\n\n\n<div style=\"height:10px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>For more information, see the original post: <a href=\"https:\/\/onlinelibrary.wiley.com\/doi\/abs\/10.1002\/humu.22689?cookieSet=1\">https:\/\/onlinelibrary.wiley.com\/doi\/abs\/10.1002\/humu.22689?cookieSet=1<\/a><\/p>","protected":false},"excerpt":{"rendered":"<p>As we know, genes contain the information for the manufacture of all the proteins in our body. Among them, there are proteins called ubiquitin ligases, whose main function consists in the regulation of various biological processes by controlling the expression of different proteins. This mechanism is known as ubiquitination and proteins [\u2026]<\/p>","protected":false},"author":9,"featured_media":3380,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[192],"tags":[42,111,18,112,113,114,93],"class_list":["post-3089","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-curiosidades-geneticas","tag-adntro","tag-enfermedades-raras","tag-genetica","tag-proteosoma","tag-sindrome-de-tenorio","tag-ubiquitinas","tag-variantes-geneticas"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v22.0 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>\u00bfC\u00f3mo de frecuentes son las enfermedades raras? | ADNTRO<\/title>\n<meta name=\"description\" content=\"\u00bfC\u00f3mo de frecuentes son las enfermedades raras? 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