dc.contributor.author
Umbria, Miriam
dc.contributor.author
Ramos, Amanda
dc.contributor.author
Aluja, Maria Pilar
dc.contributor.author
Santos, Cristina
dc.identifier
https://ddd.uab.cat/record/252448
dc.identifier
urn:10.1038/s41598-020-59631-x
dc.identifier
urn:oai:ddd.uab.cat:252448
dc.identifier
urn:pmcid:PMC7026394
dc.identifier
urn:pmc-uid:7026394
dc.identifier
urn:pmid:32066781
dc.identifier
urn:oai:pubmedcentral.nih.gov:7026394
dc.identifier
urn:oai:egreta.uab.cat:publications/17136de4-8708-468c-85f4-94d4a6035b0e
dc.identifier
urn:scopus_id:85079687441
dc.identifier
urn:articleid:20452322v10a2766
dc.description.abstract
Recent studies associated certain type of cardiovascular disease (CVD) with specific mitochondrial DNA (mtDNA) defects, mainly driven by the central role of mitochondria in cellular metabolism. Considering the importance of the control region (CR) on the regulation of the mtDNA gene expression, the aim of the present study was to investigate the role of mtDNA CR mutations in two CVDs: stroke and myocardial infarction (MI). MtDNA CR mutations (both fixed and in heteroplasmy) were analysed in two demographically-matched case-control samples, using 154 stroke cases, 211 MI cases and their corresponding control individuals. Significant differences were found, reporting mutations m.16145 G.
dc.format
application/pdf
dc.relation
Ministerio de Economía y Competitividad CGL2014-53781-R
dc.relation
Agència de Gestió d'Ajuts Universitaris i de Recerca 2017/SGR-1630
dc.relation
Scientific reports ; Vol. 10 (February 2020), art. 2766
dc.rights
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.
dc.rights
https://creativecommons.org/licenses/by/4.0/
dc.subject
Genetic association study
dc.title
The role of control region mitochondrial DNA mutations in cardiovascular disease : stroke and myocardial infarction
