{"id":169685,"date":"2025-08-07T07:28:04","date_gmt":"2025-08-07T06:28:04","guid":{"rendered":"https:\/\/helloproject.es\/vigilancia\/describen-el-mecanismo-detras-de-un-gen-mutado-que-predispone-a-la-diabetes-tipo-2\/"},"modified":"2025-08-07T07:28:04","modified_gmt":"2025-08-07T06:28:04","slug":"describen-el-mecanismo-detras-de-un-gen-mutado-que-predispone-a-la-diabetes-tipo-2","status":"publish","type":"post","link":"https:\/\/helloproject.es\/vigilancia\/describen-el-mecanismo-detras-de-un-gen-mutado-que-predispone-a-la-diabetes-tipo-2\/","title":{"rendered":"Describen el mecanismo detr\u00e1s de un gen mutado que predispone a la diabetes tipo 2"},"content":{"rendered":"

Existe un gen llamado\u00a0HNF1A que, si tiene unas mutaciones espec\u00edficas, se produce una forma\u00a0rara y de aparici\u00f3n temprana de diabetes, llamada\u00a0MODY3. Pero tambi\u00e9n existen alteraciones frecuentes en este gen, en menor escala, y que predisponen a millones de personas a desarrollar diabetes tipo\u202f2. Un estudio liderado por un equipo del Centro de Regulaci\u00f3n Gen\u00f3mica de Barcelona (CRG)\u00a0desvela la raz\u00f3n de este fen\u00f3meno.<\/p>\n

El estudio, publicado en\u00a0Cell Metabolism,\u00a0desvela que la ra\u00edz del problema se encuentra en las c\u00e9lulas beta pancre\u00e1ticas productoras de insulina.<\/p>\n

As\u00ed lo demostraron los resultados, donde los niveles de glucosa en sangre en ratones solo se modificaban cuando se eliminaba el gen HNF1A de las c\u00e9lulas beta, y no cuando se hac\u00eda en c\u00e9lulas de h\u00edgado o intestino.\u00a0<\/p>\n

Los niveles de glucosa en sangre se modificaron solo cuando el gen HNF1A\u00a0se eliminaba de las c\u00e9lulas beta del p\u00e1ncreas<\/p>\n

Seg\u00fan explica a SINC el l\u00edder del estudio e investigador del CRG,\u00a0Jorge Ferrer, en un p\u00e1ncreas sano, por cada c\u00e9lula beta que funciona lentamente produciendo insulina, hay otra que lo hace bien y r\u00e1pido. Pero en un paciente de diabetes tipo 2, ese equilibrio se rompe y por cada \u201cbuena\u201d hay ocho que no responden de una manera \u00f3ptima.<\/p>\n

\"Secci\u00f3n<\/p>\n

Secci\u00f3n de tejido pancre\u00e1tico. \/ Miguel\u202fAngel\u202fMaestro\u202fGarriga (CRG)<\/p>\n

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\u201cEsta p\u00e9rdida de capacidad funcional se traduce en menos insulina disponible cuando sube la glucosa, lo que favorece la hiperglucemia cr\u00f3nica\u201d, argumenta el experto.\u00a0<\/p>\n

<\/a><\/p>\n

Un factor que se une al ADN<\/h2>\n

HNF1A es un factor de transcripci\u00f3n, es decir, su funci\u00f3n consiste en unirse al ADN y ajustar la expresi\u00f3n de otros genes.\u00a0Al suprimirse en las c\u00e9lulas beta humanas o murinas, los cient\u00edficos descubrieron que afecta a la activaci\u00f3n de un centenar de genes, muchos de los cuales codifican mol\u00e9culas necesarias para el transporte y la liberaci\u00f3n de insulina, seg\u00fan indica el estudio.\u00a0<\/p>\n

Asimismo, otro de los objetivos de este gen es la producci\u00f3n de A1CF encargado de ensamblar \u2013splicing\u00a0en ingl\u00e9s\u2013 el ARN antes de introducirse en las prote\u00ednas.\u00a0<\/p>\n

HNF1A afecta a la activaci\u00f3n de un centenar de genes\u00a0muchos de los cuales codifican mol\u00e9culas necesarias para el transporte y la\u00a0liberaci\u00f3n de insulina<\/p>\n

\u201cCuando HNF1A falla, ya sea por mutaciones raras o por variantes comunes que lo hacen trabajar a medio gas, la producci\u00f3n de A1CF cae en picado y eso dispara los errores de ensamblaje en cientos de ARN mensajeros\u201d, explica Ferrer.\u00a0Tambi\u00e9n vieron que se pod\u00edan acumular entre 1 900 y 2 3000 errores de\u00a0splicing\u00a0diferentes.<\/p>\n

\"Imagen<\/p>\n

Imagen de un islote pancre\u00e1tico \/Miguel\u202fAngel\u202fMaestro\u202fGarriga (CRG)<\/p>\n

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El funcionamiento correcto de ambos genes importa, afirma otro autor del estudio e investigador del CRG, Mat\u00edas Gonzalo de Vas. \u201cEl primer golpe es m\u00e1s amplio y prepara el terreno, mientras que el segundo a\u00f1ade disfunci\u00f3n adicional, expresa el cient\u00edfico sobre la producci\u00f3n de HNF1A y A1CF, respectivamente.\u00a0<\/p>\n

El an\u00e1lisis de c\u00e9lulas pancre\u00e1ticas humanas ilustr\u00f3 un panorama similar. En donantes sanos se observ\u00f3 una poblaci\u00f3n robusta de c\u00e9lulas \u03b2 con elevada actividad de HNF1A y A1CF, mientras que en donantes con diabetes tipo\u202f2 se detect\u00f3 un aumento significativo de poblaciones celulares con baja actividad de ambos genes.<\/p>\n

<\/a><\/p>\n

Estudios humanos<\/h2>\n

Estos resultados ofrecen nuevas dianas terap\u00e9uticas tanto para la diabetes monog\u00e9nica \u2013que afecta al 0,03 % de la poblaci\u00f3n\u2013 como para la diabetes tipo 2, una enfermedad metab\u00f3lica con la que convive uno de cada nueve adultos y afecta a 600 personas en todo el mundo.<\/p>\n

<\/p>\n

Las anomal\u00edas de ARN que hemos encontrado son\u00a0subsanables\u00a0y ofrecen un objetivo claro, algo poco habitual en una enfermedad incre\u00edblemente compleja<\/p>\n

Jorge Ferrer, CRG
\n<\/p>\n

\u201cLas terapias existentes para la diabetes disminuyen la glucemia sin corregir los defectos subyacentes\u201d, explica Ferrer. \u201cLas anomal\u00edas de ARN que hemos encontrado son subsanables y ofrecen un objetivo claro, algo poco habitual en una enfermedad incre\u00edblemente compleja\u201d, argumenta.\u00a0<\/p>\n

Seg\u00fan sus hallazgos y aunque esta enfermedad metab\u00f3lica se relacione en gran medida con el estilo de vida, los investigadores afirman que estas mutaciones contribuyen de una forma \u201ccausal\u201d a su inicio. Por ello, ahora planean identificar todas las prote\u00ednas y mol\u00e9culas de ARN susceptibles de convertirse en v\u00edas para el tratamiento.\u00a0<\/p>\n

Referencia:<\/p>\n

Bernardo.\u00a0et al. HNF1A and A1CF coordinate a beta cell transcription-splicing axis that is disrupted in type 2 diabetes. Cell Metabolism<\/a>. 2025.<\/p>","protected":false},"excerpt":{"rendered":"

Existe un gen llamado\u00a0HNF1A que, si tiene unas mutaciones espec\u00edficas, se produce una forma\u00a0rara y de aparici\u00f3n temprana de diabetes, llamada\u00a0MODY3. Pero tambi\u00e9n existen alteraciones frecuentes en este gen, en menor escala, y que predisponen a millones de personas a desarrollar diabetes tipo\u202f2. Un estudio liderado por un equipo del Centro de Regulaci\u00f3n Gen\u00f3mica de […]<\/p>\n","protected":false},"author":5,"featured_media":0,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","ast-disable-related-posts":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"categories":[5],"tags":[],"class_list":["post-169685","post","type-post","status-publish","format-standard","hentry","category-noticias"],"yoast_head":"\nDescriben el mecanismo detr\u00e1s de un gen mutado que predispone a la diabetes tipo 2 - bip4ex<\/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:\/\/helloproject.es\/vigilancia\/describen-el-mecanismo-detras-de-un-gen-mutado-que-predispone-a-la-diabetes-tipo-2\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Describen el mecanismo detr\u00e1s de un gen mutado que predispone a la diabetes tipo 2\" \/>\n<meta property=\"og:description\" content=\"Existe un gen llamado\u00a0HNF1A que, si tiene unas mutaciones espec\u00edficas, se produce una forma\u00a0rara y de aparici\u00f3n temprana de diabetes, llamada\u00a0MODY3. 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