{"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\/es\/blog\/curiosidades-geneticas\/como-de-frecuente-son-las-enfermedades-raras\/","title":{"rendered":"\u00bfC\u00f3mo de frecuentes son las enfermedades raras?"},"content":{"rendered":"\n<p>Como sabemos, los genes contienen la informaci\u00f3n para la fabricaci\u00f3n de todas las prote\u00ednas de nuestro organismo. De entre ellas, existen unas prote\u00ednas llamadas ubiquitinas ligasas, cuya principal funci\u00f3n consiste en la regulaci\u00f3n de varios procesos biol\u00f3gicos mediante el control de la expresi\u00f3n de diferentes prote\u00ednas. Este mecanismo se conoce como ubiquitinaci\u00f3n y las prote\u00ednas marcadas son degradadas en el proteasoma (un complejo proteico que se encarga de degradar prote\u00ednas no necesarias o da\u00f1adas).<\/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=\"ubiquitinacion\" 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>Existen muchas enfermedades gen\u00e9ticas humanas causadas por la aparici\u00f3n de variantes patog\u00e9nicas en genes que codifican estas ubiquitinas. Y dentro de esta enorme familia de genes, vamos a destacar a uno de ellos, el gen <em>RNF125<\/em>, que hasta hace unos pocos a\u00f1os, no hab\u00eda sido relacionado con ninguna enfermedad.<\/p>\n\n\n\n<div style=\"height:10px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>Sin embargo, los estudios mediante secuenciaci\u00f3n de \u00faltima generaci\u00f3n o secuenciaci\u00f3n masiva paralela (NGS de sus siglas en ingl\u00e9s \u201c<em>Next Generation Sequencing<\/em>\u201d) ha permitido identificar varias familias con variantes en este gen, que presentan caracter\u00edsticas cl\u00ednicas comunes a todos ellos, dentro de las que destacan: sobrecrecimiento postnatal, hipoglicemia neonatal, enfermedades inflamatorias recurrentes, alteraciones del neurodesarrollo y unas caracter\u00edsticas cl\u00ednicas faciales caracter\u00edsticas.<\/p>\n\n\n\n<div style=\"height:10px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>A esta enfermedad, causada por mutaciones en el gen <em>RNF125<\/em>, se le conoce actualmente como <strong><em><a href=\"https:\/\/elpais.com\/ciencia\/2021-11-17\/el-sindrome-de-tenorio-una-enfermedad-nueva-con-21-pacientes-conocidos.html\">S\u00edndrome de Tenorio<\/a><\/em><\/strong>, nombre acu\u00f1ado por la Universidad John Hopkins y el departamento de medicina gen\u00e9tica McKusick-Nathans en honor al grupo de investigadores y espec\u00edficamente al primer autor de la publicaci\u00f3n original.<\/p>\n\n\n\n<div style=\"height:10px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>Actualmente, se conocen aproximadamente unos <strong>19 casos en todo el mundo<\/strong>, lo que implica una gran importancia para dar visibilidad a este tipo de <strong>enfermedades poco frecuentes<\/strong>. Es fascinante el conocimiento que genera la investigaci\u00f3n gen\u00e9tica, como queda demostrado en la descripci\u00f3n de esta nueva enfermedad.<\/p>\n\n\n\n<div style=\"height:10px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u00a1Descubre lo que llevas ADNTRO con nuestras <a href=\"https:\/\/adntro.com\/es\/\">pruebas de ADN<\/a>!<\/p>\n\n\n\n<div style=\"height:10px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>Para m\u00e1s informaci\u00f3n, consulte la publicaci\u00f3n original: <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>\n","protected":false},"excerpt":{"rendered":"<p>Como sabemos, los genes contienen la informaci\u00f3n para la fabricaci\u00f3n de todas las prote\u00ednas de nuestro organismo. De entre ellas, existen unas prote\u00ednas llamadas ubiquitinas ligasas, cuya principal funci\u00f3n consiste en la regulaci\u00f3n de varios procesos biol\u00f3gicos mediante el control de la expresi\u00f3n de diferentes prote\u00ednas. Este mecanismo se conoce como ubiquitinaci\u00f3n y las prote\u00ednas [&hellip;]<\/p>\n","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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