The role of control region mitochondrial DNA mutations in cardiovascular disease : stroke and myocardial infarction
Umbria, Miriam (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia)
Ramos, Amanda (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)
Pereira dos Santos, Cristina Maria (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia)

Data:	2020
Resum:	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 > A and m. 16311 T > C as potential genetic risk factors for stroke (conditional logistic regression: p = 0. 038 and p = 0. 018, respectively), whereas the m. 72 T > C, m. 73 A > G and m. 16356 T > C mutations could act as possible beneficial genetic factors for MI (conditional logistic regression: p = 0. 001, p = 0. 009 and p = 0. 016, respectively). Furthermore, our findings also showed a high percentage of point heteroplasmy in MI controls (logistic regression: p = 0. 046; OR = 0. 209, 95% CI [0. 045-0. 972]). These results demonstrate the possible role of mtDNA mutations in the CR on the pathogenesis of stroke and MI, and show the importance of including this regulatory region in genetic association studies.
Ajuts:	Ministerio de Economía y Competitividad CGL2014-53781-R Agència de Gestió d'Ajuts Universitaris i de Recerca 2017/SGR-1630
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:	Genetic association study ; Risk factors
Publicat a:	Scientific reports, Vol. 10 (February 2020) , art. 2766, ISSN 2045-2322

DOI: 10.1038/s41598-020-59631-x
PMID: 32066781

10 p, 1.5 MB

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