dc.contributor.author | Bulduk, Bengisu K. | |
dc.contributor.author | Tortajada, Juan | |
dc.contributor.author | Valiente Pallejà, Alba | |
dc.contributor.author | Callado Hernando, Luis Felipe | |
dc.contributor.author | Torrell, Helena | |
dc.contributor.author | Vilella, Elisabet | |
dc.contributor.author | Meana Martínez, José Javier | |
dc.contributor.author | Muntané, Gerard | |
dc.contributor.author | Martorell, Lourdes | |
dc.date.accessioned | 2024-08-07T10:25:58Z | |
dc.date.available | 2024-08-07T10:25:58Z | |
dc.date.issued | 2024-07 | |
dc.identifier.citation | Psychiatry Research 337 : (2024) // Article ID 115928 | es_ES |
dc.identifier.issn | 1872-7123 | |
dc.identifier.uri | http://hdl.handle.net/10810/69200 | |
dc.description.abstract | Previous studies have shown mitochondrial dysfunction in schizophrenia (SZ) patients, which may be caused by mitochondrial DNA (mtDNA) alterations. However, there are few studies in SZ that have analyzed mtDNA in brain samples by next-generation sequencing (NGS). To address this gap, we used mtDNA-targeted NGS and qPCR to characterize mtDNA alterations in brain samples from patients with SZ (n = 40) and healthy controls (HC) (n = 40). 35 % of SZ patients showed mtDNA alterations, a significantly higher prevalence compared to 10 % of HC. Specifically, SZ patients had a significantly higher frequency of deletions (35 vs. 5 in HC), with a mean number of deletions of 3.8 in SZ vs. 1.0 in HC. Likely pathogenic missense variants were also significantly more frequent in patients with SZ than in HC (10 vs. three HC), encompassing 14 variants in patients and three in HC. The pathogenic tRNA variant m.3243A>G was identified in one SZ patient with a high heteroplasmy level of 32.2 %. While no significant differences in mtDNA copy number (mtDNA-CN) were observed between SZ and HC, antipsychotic users had significantly higher mtDNA-CN than non-users. These findings suggest a potential role for mtDNA alterations in the pathophysiology of SZ that require further validation and functional studies. | es_ES |
dc.description.sponsorship | This work was supported by the Instituto de Salud Carlos III grant numbers PI18/00514 and PI21/01812, the Basque Government (IT-1512/22 and 2021111018), the Catalan Agency for Research and Universities (AGAUR) 2017SGR-00444 and 2021SGR-01065, the IISPV-Cerca program of the Generalitat de Catalunya, and co-funded by the European Union. Alba Valiente-Pallejà received a Talent-URV-Dipta grant from the Diputació de Tarragona. Bengisu K. Bulduk had a scholarship (FIDGR-2020) and Juan Tortajada had an industrial doctorate (DI21–85), both from the Generalitat de Catalunya. | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | Elsevier | es_ES |
dc.rights | info:eu-repo/semantics/openAccess | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es/ | * |
dc.subject | mitochondrial DNA | es_ES |
dc.subject | schizophrenia | es_ES |
dc.subject | postmortem brain | es_ES |
dc.subject | next-generation sequencing | es_ES |
dc.title | High number of mitochondrial DNA alterations in postmortem brain tissue of patients with schizophrenia compared to healthy controls | es_ES |
dc.type | info:eu-repo/semantics/article | es_ES |
dc.rights.holder | © 2024 The Author(s). Published by Elsevier B.V. This is an open access article under the CC BY license. | es_ES |
dc.rights.holder | Atribución 3.0 España | * |
dc.relation.publisherversion | https://www.sciencedirect.com/science/article/pii/S0165178124002130 | es_ES |
dc.identifier.doi | 10.1016/j.psychres.2024.115928 | |
dc.departamentoes | Farmacología | es_ES |
dc.departamentoeu | Farmakologia | es_ES |