Exploring extracellular small RNAs as potential early biomarkers and mediators in the pathogenesis of Huntington’s disease

[eng] Huntington's disease (HD) is a dominantly inherited neurodegenerative disorder caused by an expansion of CAG triplets in the huntingtin gene (HTT). The main neuropathological signs of HD include the presence of cytoplasmic aggregates of the protein produced by mutated HTT (mHTT), massive...

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Autor: Herrero Lorenzo, Marina
Tipo de recurso: tesis doctoral
Estado:Versión publicada
Fecha de publicación:2024
País:España
Institución:Universidad de Barcelona
Repositorio:Dipòsit Digital de la UB
OAI Identifier:oai:diposit.ub.edu:2445/217435
Acceso en línea:https://hdl.handle.net/2445/217435
http://hdl.handle.net/10803/693327
Access Level:acceso abierto
Palabra clave:Marcadors bioquímics
Citogenètica
Corea de Huntington
Micro RNAs
Biochemical markers
Cytogenetics
Huntington's chorea
MicroRNAs
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spelling Exploring extracellular small RNAs as potential early biomarkers and mediators in the pathogenesis of Huntington’s diseaseHerrero Lorenzo, MarinaMarcadors bioquímicsCitogenèticaCorea de HuntingtonMicro RNAsBiochemical markersCytogeneticsHuntington's choreaMicroRNAs[eng] Huntington's disease (HD) is a dominantly inherited neurodegenerative disorder caused by an expansion of CAG triplets in the huntingtin gene (HTT). The main neuropathological signs of HD include the presence of cytoplasmic aggregates of the protein produced by mutated HTT (mHTT), massive loss of medium spiny neurons in the striatum, and cortical degeneration. In current clinical practice, symptomatic patients are diagnosed based on the appearance of a complex constellation of clinical symptoms, including progressive motor abnormalities, neuropsychiatric disorders, early cognitive impairment, and dementia, among others. However, genetic analysis allows the use of predictive tests to identify carriers of the genetic mutation in presymptomatic phases, who may present progressive brain changes and alterations in cognitive performance long before the diagnosis of the disease characterized by the appearance of motor symptoms. Current treatments for HD only provide symptomatic relief, and the most recent results from clinical trials investigating gene therapies have not shown significant efficacy so far. Combining predictive genetic testing with novel molecular biomarkers at early stages could help improve clinical trial design for HD, by selecting the most appropriate patients, stratification of patients for interventions, monitoring response to treatment, and improving the efficiency of new clinical trials.[spa] La enfermedad de Huntington (EH) es un trastorno neurodegenerativo hereditario dominante causado por una expansión de los trillizos CAG en el gen de la huntingtina (HTT). Los principales signos neuropatológicos de la EH incluyen la presencia de agregados citoplasmáticos de la proteína producida por HTT mutada (mHTT), pérdida masiva de neuronas espinosas medianas en el cuerpo estriado y degeneración cortical. En la práctica clínica actual, los pacientes sintomáticos se diagnostican a partir de la aparición de una compleja constelación de síntomas clínicos, que incluyen anomalías motoras progresivas, trastornos neuropsiquiátricos, deterioro cognitivo temprano y demencia, entre otros. Sin embargo, el análisis genético permite el uso de pruebas predictivas para identificar portadores de la mutación genética en fases presintomáticas, que pueden presentar cambios cerebrales progresivos y alteraciones en el rendimiento cognitivo mucho antes del diagnóstico de la enfermedad caracterizada por la aparición de síntomas motores. Los tratamientos actuales para la EH solo proporcionan un alivio sintomático, y los resultados más recientes de los ensayos clínicos que investigan las terapias génicas no han demostrado una eficacia significativa hasta ahora. La combinación de pruebas genéticas predictivas con nuevos biomarcadores moleculares en etapas tempranas podría ayudar a mejorar el diseño de los ensayos clínicos para la EH, mediante la selección de los pacientes más adecuados, la estratificación de los pacientes para las intervenciones, el seguimiento de la respuesta al tratamiento y la mejora de la eficiencia de los nuevos ensayos clínicos.Universitat de BarcelonaMartí Puig, EulàliaGámez Valero, AnaUniversitat de Barcelona. Departament de Biomedicina2024info:eu-repo/semantics/doctoralThesisinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/2445/217435http://hdl.handle.net/10803/693327Tesis Doctorals - Departament - Biomedicinareponame:Dipòsit Digital de la UBinstname:Universidad de BarcelonaInglés(c) Herrero Lorenzo, Marina, 2025info:eu-repo/semantics/openAccessoai:diposit.ub.edu:2445/2174352026-05-27T06:46:51Z
dc.title.none.fl_str_mv Exploring extracellular small RNAs as potential early biomarkers and mediators in the pathogenesis of Huntington’s disease
title Exploring extracellular small RNAs as potential early biomarkers and mediators in the pathogenesis of Huntington’s disease
spellingShingle Exploring extracellular small RNAs as potential early biomarkers and mediators in the pathogenesis of Huntington’s disease
Herrero Lorenzo, Marina
Marcadors bioquímics
Citogenètica
Corea de Huntington
Micro RNAs
Biochemical markers
Cytogenetics
Huntington's chorea
MicroRNAs
title_short Exploring extracellular small RNAs as potential early biomarkers and mediators in the pathogenesis of Huntington’s disease
title_full Exploring extracellular small RNAs as potential early biomarkers and mediators in the pathogenesis of Huntington’s disease
title_fullStr Exploring extracellular small RNAs as potential early biomarkers and mediators in the pathogenesis of Huntington’s disease
title_full_unstemmed Exploring extracellular small RNAs as potential early biomarkers and mediators in the pathogenesis of Huntington’s disease
title_sort Exploring extracellular small RNAs as potential early biomarkers and mediators in the pathogenesis of Huntington’s disease
dc.creator.none.fl_str_mv Herrero Lorenzo, Marina
author Herrero Lorenzo, Marina
author_facet Herrero Lorenzo, Marina
author_role author
dc.contributor.none.fl_str_mv Martí Puig, Eulàlia
Gámez Valero, Ana
Universitat de Barcelona. Departament de Biomedicina
dc.subject.none.fl_str_mv Marcadors bioquímics
Citogenètica
Corea de Huntington
Micro RNAs
Biochemical markers
Cytogenetics
Huntington's chorea
MicroRNAs
topic Marcadors bioquímics
Citogenètica
Corea de Huntington
Micro RNAs
Biochemical markers
Cytogenetics
Huntington's chorea
MicroRNAs
description [eng] Huntington's disease (HD) is a dominantly inherited neurodegenerative disorder caused by an expansion of CAG triplets in the huntingtin gene (HTT). The main neuropathological signs of HD include the presence of cytoplasmic aggregates of the protein produced by mutated HTT (mHTT), massive loss of medium spiny neurons in the striatum, and cortical degeneration. In current clinical practice, symptomatic patients are diagnosed based on the appearance of a complex constellation of clinical symptoms, including progressive motor abnormalities, neuropsychiatric disorders, early cognitive impairment, and dementia, among others. However, genetic analysis allows the use of predictive tests to identify carriers of the genetic mutation in presymptomatic phases, who may present progressive brain changes and alterations in cognitive performance long before the diagnosis of the disease characterized by the appearance of motor symptoms. Current treatments for HD only provide symptomatic relief, and the most recent results from clinical trials investigating gene therapies have not shown significant efficacy so far. Combining predictive genetic testing with novel molecular biomarkers at early stages could help improve clinical trial design for HD, by selecting the most appropriate patients, stratification of patients for interventions, monitoring response to treatment, and improving the efficiency of new clinical trials.
publishDate 2024
dc.date.none.fl_str_mv 2024
dc.type.none.fl_str_mv info:eu-repo/semantics/doctoralThesis
info:eu-repo/semantics/publishedVersion
format doctoralThesis
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/217435
http://hdl.handle.net/10803/693327
url https://hdl.handle.net/2445/217435
http://hdl.handle.net/10803/693327
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv (c) Herrero Lorenzo, Marina, 2025
info:eu-repo/semantics/openAccess
rights_invalid_str_mv (c) Herrero Lorenzo, Marina, 2025
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Universitat de Barcelona
publisher.none.fl_str_mv Universitat de Barcelona
dc.source.none.fl_str_mv Tesis Doctorals - Departament - Biomedicina
reponame:Dipòsit Digital de la UB
instname:Universidad de Barcelona
instname_str Universidad de Barcelona
reponame_str Dipòsit Digital de la UB
collection Dipòsit Digital de la UB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.811543

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