Complete mitochondrial DNA profile in stroke : A geographical matched case-control study in Spanish population
Onieva, Ana (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia)
Martin, Joan (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)
Cuesta-Aguirre, Daniel R (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia)
Planells, Violeta (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia)
Coronado-Zamora, Marta (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí")
Beyer, Katrin (Institut Germans Trias i Pujol)
Vega, Tomás (Dirección General de Salud Pública de la Junta de Castilla y León)
Lozano, José Eugenio (Dirección General de Salud Pública de la Junta de Castilla y León)
Santos, Cristina (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia)
Aluja París, Maria Pilar (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia)

Date:	2023
Abstract:	Introduction: Stroke, the second leading cause of death worldwide, is a complex disease influenced by many risk factors among which we can find reactive oxygen species (ROS). Since mitochondria are the main producers of cellular ROS, nowadays studies are trying to elucidate the role of these organelles and its DNA (mtDNA) variation in stroke risk. The aim of the present study was to perform a comprehensive evaluation of the association between mtDNA mutations and mtDNA content and stroke risk. Material and methods: Homoplasmic and heteroplasmic mutations of the mtDNA were analysed in a case-controls study using 110 S cases and their corresponding control individuals. Mitochondrial DNA copy number (mtDNA-CN) was analysed in 73 of those case-control pairs. Results: Our results suggest that haplogroup V, specifically variants m. 72C > T, m. 4580G > A, m. 15904C > T and m. 16298 T > C have a protective role in relation to stroke risk. On the contrary, variants m. 73A > G, m. 11719G > A and m. 14766C > T appear to be genetic risk factors for stroke. In this study, we found no statistically significant association between stroke risk and mitochondrial DNA copy number. Conclusions: These results demonstrate the possible role of mtDNA genetics on the pathogenesis of stroke, probably through alterations in mitochondrial ROS production.
Grants:	Agència de Gestió d'Ajuts Universitaris i de Recerca 2017/SGR-1630 Ministerio de Economía y Competitividad CGL2014-53781-R
Note:	Altres ajuts: acords transformatius de la UAB
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial i la comunicació pública de l'obra, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. No es permet la creació d'obres derivades.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	Stroke ; Mitochondrial DNA ; Mitochondrial haplogroups ; Copy number
Published in:	Mitochondrion, Vol. 73 (November 2023) , p. 51-61, ISSN 1872-8278

DOI: 10.1016/j.mito.2023.10.001

11 p, 903.6 KB

The record appears in these collections:
Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut d'Investigació en Ciencies de la Salut Germans Trias i Pujol (IGTP)
Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut de Biotecnologia i de Biomedicina (IBB)
Articles > Research articles
Articles > Published articles