¿Los cambios en la función de las plaquetas contribuyen al desarrollo de la demencia con cuerpos de Lewy?

Lewy body dementia (DLB) is a neurodegenerative disease characterized by a combination of cognitive, motor, and neuropsychiatric symptoms, which complicates its differential diagnosis compared to other pathologies such as Alzheimer's disease (AD) and Parkinson's disease (PD). This study an...

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Detalles Bibliográficos
Autor: Fernández Aixalà, Kilian
Tipo de recurso: tesis de maestría
Fecha de publicación:2025
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:español
OAI Identifier:oai:ddd.uab.cat:320184
Acceso en línea:https://ddd.uab.cat/record/320184
Access Level:acceso abierto
Palabra clave:Lewy body dementia (DLB)
Neurodegenerative disease
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spelling ¿Los cambios en la función de las plaquetas contribuyen al desarrollo de la demencia con cuerpos de Lewy?Fernández Aixalà, KilianLewy body dementia (DLB)Neurodegenerative diseaseLewy body dementia (DLB) is a neurodegenerative disease characterized by a combination of cognitive, motor, and neuropsychiatric symptoms, which complicates its differential diagnosis compared to other pathologies such as Alzheimer's disease (AD) and Parkinson's disease (PD). This study analyzes the expression of genes related to synaptic function and platelet activation in brain tissue (temporal cortex) and in platelets, with the aim of identifying potential peripheral biomarkers for DLB. This work was carried out during my research placement within the GTS (Genomics and Transcriptomics of Synucleinopathies) research group, where I actively participated in experimental procedures and data analysis. The genes SRC, GNB5, CYBB, CD9, DGKE, and P2RY12 were evaluated using qPCR, applying the ΔΔCt method and non-parametric statistical analysis. The results showed significant overexpression of GNB5 in the brains of patients with DLB and PD, and differential expression of SRC, which was increased in the brains of PD/PDD patients and in the platelets of individuals with DLB, PD, and AD. CYBB and P2RY12 were exclusively expressed in the brains of DLB cases, suggesting a distinctive neuroinflammatory profile. In platelets, CD9 was elevated in PD and showed a trend toward increased expression in AD and DLB, whereas GNB5 and CYBB did not show significant changes. These findings suggest an opposing gene regulation pattern between brain and platelets, and support the use of SRC as a potential peripheral biomarker for DLB. Platelets may play an active role in the pathophysiology of this disease, beyond their traditional hemostatic function, opening new diagnostic and therapeutic avenues.Universitat Autònoma de Barcelona. Facultat de BiociènciesCanalias Reverter, FrancescaBeyer, Katrin 22025-01-0120252025-01-01Treball de fi de postgrauhttp://purl.org/coar/resource_type/c_bdccVoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/masterThesisapplication/pdfhttps://ddd.uab.cat/record/320184reponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaEspañolspaopen accesshttp://purl.org/coar/access_right/c_abf2Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució i la comunicació pública de l'obra, sempre que es reconegui l'autoria de l'obra original. No es permet la creació d'obres derivades.https://creativecommons.org/licenses/by-nd/4.0/info:eu-repo/semantics/openAccessoai:ddd.uab.cat:3201842026-06-06T12:50:31Z
dc.title.none.fl_str_mv ¿Los cambios en la función de las plaquetas contribuyen al desarrollo de la demencia con cuerpos de Lewy?
title ¿Los cambios en la función de las plaquetas contribuyen al desarrollo de la demencia con cuerpos de Lewy?
spellingShingle ¿Los cambios en la función de las plaquetas contribuyen al desarrollo de la demencia con cuerpos de Lewy?
Fernández Aixalà, Kilian
Lewy body dementia (DLB)
Neurodegenerative disease
title_short ¿Los cambios en la función de las plaquetas contribuyen al desarrollo de la demencia con cuerpos de Lewy?
title_full ¿Los cambios en la función de las plaquetas contribuyen al desarrollo de la demencia con cuerpos de Lewy?
title_fullStr ¿Los cambios en la función de las plaquetas contribuyen al desarrollo de la demencia con cuerpos de Lewy?
title_full_unstemmed ¿Los cambios en la función de las plaquetas contribuyen al desarrollo de la demencia con cuerpos de Lewy?
title_sort ¿Los cambios en la función de las plaquetas contribuyen al desarrollo de la demencia con cuerpos de Lewy?
dc.creator.none.fl_str_mv Fernández Aixalà, Kilian
author Fernández Aixalà, Kilian
author_facet Fernández Aixalà, Kilian
author_role author
dc.contributor.none.fl_str_mv Universitat Autònoma de Barcelona. Facultat de Biociències
Canalias Reverter, Francesca
Beyer, Katrin
dc.subject.none.fl_str_mv Lewy body dementia (DLB)
Neurodegenerative disease
topic Lewy body dementia (DLB)
Neurodegenerative disease
description Lewy body dementia (DLB) is a neurodegenerative disease characterized by a combination of cognitive, motor, and neuropsychiatric symptoms, which complicates its differential diagnosis compared to other pathologies such as Alzheimer's disease (AD) and Parkinson's disease (PD). This study analyzes the expression of genes related to synaptic function and platelet activation in brain tissue (temporal cortex) and in platelets, with the aim of identifying potential peripheral biomarkers for DLB. This work was carried out during my research placement within the GTS (Genomics and Transcriptomics of Synucleinopathies) research group, where I actively participated in experimental procedures and data analysis. The genes SRC, GNB5, CYBB, CD9, DGKE, and P2RY12 were evaluated using qPCR, applying the ΔΔCt method and non-parametric statistical analysis. The results showed significant overexpression of GNB5 in the brains of patients with DLB and PD, and differential expression of SRC, which was increased in the brains of PD/PDD patients and in the platelets of individuals with DLB, PD, and AD. CYBB and P2RY12 were exclusively expressed in the brains of DLB cases, suggesting a distinctive neuroinflammatory profile. In platelets, CD9 was elevated in PD and showed a trend toward increased expression in AD and DLB, whereas GNB5 and CYBB did not show significant changes. These findings suggest an opposing gene regulation pattern between brain and platelets, and support the use of SRC as a potential peripheral biomarker for DLB. Platelets may play an active role in the pathophysiology of this disease, beyond their traditional hemostatic function, opening new diagnostic and therapeutic avenues.
publishDate 2025
dc.date.none.fl_str_mv 2
2025-01-01
2025
2025-01-01
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https://creativecommons.org/licenses/by-nd/4.0/
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