{rfName}
Co

Indexed in

License and use

Citations

Altmetrics

Grant support

This work is supported by Ministerio de Economia y Competitividad (project: CGL2014-53781-R) and by Generalitat de Catalunya (Ref. 2017 SGR 1630). We thank Dr. Pere Puig Casado for his advice regarding the statistical analyses.

Analysis of institutional authors

Planells, VioletaAuthor
Share
Publications
>
Article

Complete mitochondrial DNA profile in stroke: A geographical matched case-control study in Spanish population

Publicated to:Mitochondrion. 73 51-61 - 2023-10-08 73(), DOI: 10.1016/j.mito.2023.10.001

Authors: Onieva, Ana; Martin, Joan; Cuesta-Aguirre, Daniel R; Planells, Violeta; Coronado-Zamora, Marta; Beyer, Katrin; Vega, Tomas; Lozano, Jose Eugenio; Santos, Cristina; Aluja, Maria Pilar

Affiliations

Consejeria Sanidad Junta Castilla & Leon, Direcc Gen Salud Publ, Valladolid 47007, Spain - Author
Germans Trias I Pujol Res Inst, Dept Pathol, Badalona 08916, Barcelona, Spain - Author
Inst Biotecnol & Biomed, Cerdanyola Del Valles 08193, Barcelona, Spain - Author
Univ Autonoma Barcelona, Dept Genet & Microbiol, Cerdanyola Del Valles 08193, Barcelona, Spain - Author
Univ Autonoma Barcelona, Fac Biosci, Dept Genet & Microbiol, Cerdanyola Del Valles 08193, Barcelona, Spain - Author
Univ Autonoma Barcelona, Unitat Antropol Biol, Dept Bave, Cerdanyola Del Valles 08193, Barcelona, Spain - Author
Univ Autonoma Barcelona, Unitat Antropol Biol, Dept Biol Anim Biol Vegetal & Ecol, Fac Biociencies, Edifici C, Cerdanyola Del Valles 08193, Barcelona, Spain - Author
See more

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.

Keywords
Cardiovascular-diseaseEtiologyGeneHuman mtdnaMitochondrial dnaMitochondrial dna copy numbeMitochondrial haplogroupsMutationOxidative-phosphorylationProteinSelectionStresStrokeVariants

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Mitochondrion due to its progression and the good impact it has achieved in recent years, according to the agency WoS (JCR), it has become a reference in its field. In the year of publication of the work, 2023, it was in position 45/191, thus managing to position itself as a Q1 (Primer Cuartil), in the category Genetics & Heredity.

Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2025-05-15:

  • The use, from an academic perspective evidenced by the Altmetric agency indicator referring to aggregations made by the personal bibliographic manager Mendeley, gives us a total of: 19.
  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 19 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

  • The Total Score from Altmetric: 0.25.
  • The number of mentions on the social network X (formerly Twitter): 1 (Altmetric).