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| Pàgina inicial > Articles > Articles publicats > Huntingtin CAG repeats in neuropathologically confirmed tauopathies : |
(Instituto de Investigación Sanitaria del Principado de Asturias) (Instituto de Investigación Sanitaria del Principado de Asturias) (Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer) (Hospital Clínic i Provincial de Barcelona) (Universidad de Oviedo) (Instituto de Investigación Sanitaria del Principado de Asturias) (Universidad de Oviedo) (Institut d'Investigacions Biomèdiques August Pi i Sunyer) (Institut d'Investigacions Biomèdiques August Pi i Sunyer) (Institut d'Investigacions Biomèdiques August Pi i Sunyer) (Institut d'Investigacions Biomèdiques August Pi i Sunyer) (Universitat Internacional de Catalunya) (Universitat Internacional de Catalunya) (Universitat Internacional de Catalunya) (Universitat Internacional de Catalunya) (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) (Hospital General Universitario Gregorio Marañón) (Fundación Reina Sofía) (Institut d'Investigacions Biomèdiques August Pi i Sunyer) (Instituto de Investigación Sanitaria del Principado de Asturias)
| Data: | 2024 |
| Resum: | Previous studies have suggested a relationship between the number of CAG triplet repeats in the HTT gene and neurodegenerative diseases not related to Huntington's disease (HD). This study seeks to investigate whether the number of CAG repeats of HTT is associated with the risk of developing certain tauopathies and its influence as a modulator of the clinical and neuropathological phenotype. Additionally, it aims to evaluate the potential of polyglutamine staining as a neuropathological screening. We genotyped the HTT gene CAG repeat number and APOE-ℰ isoforms in a cohort of patients with neuropathological diagnoses of tauopathies (n=588), including 34 corticobasal degeneration (CBD), 98 progressive supranuclear palsy (PSP) and 456 Alzheimer's disease (AD). Furthermore, we genotyped a control group of 1070 patients, of whom 44 were neuropathologic controls. We identified significant differences in the number of patients with pathological HTT expansions in the CBD group (2. 7%) and PSP group (3. 2%) compared to control subjects (0. 2%). A significant increase in the size of the HTT CAG repeats was found in the AD compared to the control group, influenced by the presence of the Apoliprotein E (APOE)-ℰ4 isoform. Post-mortem assessments uncovered tauopathy pathology with positive polyglutamine aggregates, with a slight predominance in the neostriatum for PSP and CBD cases and somewhat greater limbic involvement in the AD case. Our results indicated a link between HTT CAG repeat expansion with other non-HD pathology, suggesting they could share common neurodegenerative pathways. These findings support that genetic or histological screening for HTT repeat expansions should be considered in tauopathies. |
| Ajuts: | Ministerio de Economía y Competitividad PI13/02434 Ministerio de Economía y Competitividad PI16/01861 Instituto de Salud Carlos III PI17/01474 Instituto de Salud Carlos III PI19/01301 Instituto de Salud Carlos III PI22/01403 Instituto de Salud Carlos III PMP22/00022 |
| Drets: | Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.  |
| Llengua: | Anglès |
| Document: | Article ; recerca ; Versió publicada |
| Matèria: | Alzheimer disease ; Corticobasal degeneration ; HTT gene ; Progressive supranuclear palsy ; Tauopathies |
| Publicat a: | Brain pathology, Vol. 34 Núm. 4 (july 2024) , p. e13250, ISSN 1750-3639 |
