Online citations, reference lists, and bibliographies.
← Back to Search

The Role Of Control Region Mitochondrial DNA Mutations In Cardiovascular Disease: Stroke And Myocardial Infarction

M. Umbria, A. Ramos, M. P. Aluja, C. Santos
Published 2020 · Medicine

Cite This
Download PDF
Analyze on Scholarcy
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.
This paper references
Understanding differences between phylogenetic and pedigree-derived mtDNA mutation rate: a model using families from the Azores Islands (Portugal).
Cristina Santos (2005)
Mitochondrial DNA deletions in coronary artery bypass grafting patients.
S. Levitsky (2003)
Mitochondrial Haplogroups H and J: Risk and Protective Factors for Ischemic Cardiomyopathy
M. Fernández-Caggiano (2012)
D-loop: 40 years of mitochondrial 7S DNA
T Nicholls (2014)
[The relationship between coronary atherosclerotic stenosis and cerebral atherosclerotic stenosis].
Jia-ping Wei (2007)
The G16319A substitution frequency in a hemorrhagic stroke
Barbara Gaweł (2008)
Evidence for variable selective pressures at a large secondary structure of the human mitochondrial DNA control region.
F. Pereira (2008)
Common and rare variants in multifactorial susceptibility to common diseases
W. Bodmer (2008)
Recurrent Tissue-Specific mtDNA Mutations Are Common in Humans
D. Samuels (2013)
Recent Mitochondrial DNA Mutations Increase the Risk of Developing Common Late-Onset Human Diseases
G. Hudson (2014)
Decreased Peripheral Mitochondrial DNA Copy Number is Associated with the Risk of Heart Failure and Long-term Outcomes
J. Huang (2016)
Involvement of mitochondrial haplogroups in myocardial infarction and stroke: A case-control study in Castile and Leon (Spain) population.
Miriam Umbria (2019)
In D-loop: 40years of mitochondrial 7S DNA
T. Nicholls (2014)
[Design of a population-based study of cardiovascular risk in Castile and Leon [Spain] through primary care teams].
A. T. Vega Alonso (2007)
Heteroplasmic mitochondrial DNA mutations in normal and tumor cells
Y. He (2010)
Inflammatory markers, rather than conventional risk factors, are different between carotid and MCA atherosclerosis
O. Y. Bang (2005)
Extensive pathogenicity of mitochondrial heteroplasmy in healthy human individuals
Kaixiong Ye (2014)
Analysis of heteroplasmy in the major noncoding region of mitochondrial DNA in the blood and atherosclerotic plaques of carotid arteries
Maria V. Golubenko (2016)
Risk factors for the development of prosthetic valve endocarditis.
S. Calderwood (1985)
A Mouse Model of Mitochondrial Disease Reveals Germline Selection Against Severe mtDNA Mutations
W. Fan (2008)
Association of mitochondrial mutations with the age of patients having atherosclerotic lesions.
Margarita A Sazonova (2015)
Correcting for purifying selection: an improved human mitochondrial molecular clock.
P. Soares (2009)
Diseño de un estudio poblacional del riesgo cardiovascular en Castilla y León a través de los equipos de atención primaria
A. Alonso (2007)
Mitochondrial Haplogroups Modify the Risk of Developing Hypertrophic Cardiomyopathy in a Danish Population
C. Hagen (2013)
Frequency and Pattern of Heteroplasmy in the Control Region of Human Mitochondrial DNA
Cristina Santos (2008)
Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation
M. van Oven (2009)
Polymorphisms in control region of mtDNA relates to individual differences in endurance capacity or trainability.
Haruka Murakami (2002)
Somatic vs Germinal Mutations in Mitochondrial DNA: Is There Any Relation with Human Health and Aging?
Amanda Ramos (2016)
Oxidative stress and mitochondrial DNA damage in heart failure.
H. Tsutsui (2008)
Cardiovascular Disease, Mitochondria, and Traditional Chinese Medicine
J. Wang (2015)
Investigation of Heteroplasmy in the Human Mitochondrial DNA Control Region: A Synthesis of Observations from More Than 5000 Global Population Samples
Jodi A. Irwin (2009)
The maintenance of mitochondrial DNA integrity--critical analysis and update.
M. Alexeyev (2013)
Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA
R. M. Andrews (1999)
Age-Related Effects on Atherogenesis and Scavenger Enzymes of Intracranial and Extracranial Arteries in Men Without Classic Risk Factors for Atherosclerosis
F. D'armiento (2001)
Determination of Human European Mitochondrial DNA Haplogroups by Means of a Hierarchical Approach
Cristina Santos (2004)
Analysis of mitochondrial DNA heteroplasmic mutations A1555G, C3256T, T3336C, С5178А, G12315A, G13513A, G14459A, G14846А and G15059A in CHD patients with the history of myocardial infarction.
K. Y. Mitrofanov (2016)
Extensive somatic mitochondrial mutations in primary prostate cancer using laser capture microdissection.
J. Z. Chen (2002)
Initiation and beyond: multiple functions of the human mitochondrial transcription machinery.
Nicholas D Bonawitz (2006)
Association of the mitochondrial DNA 16189 T to C variant with lacunar cerebral infarction: evidence from a hospital-based case-control study.
C. Liou (2004)
Cellular and population level processes influence the rate, accumulation and observed frequency of inherited and somatic mtDNA mutations
Richard G Melvin (2017)
Mitochondrial mutations in cancer
M. Brandon (2006)
[Design of a population-based study of cardiovascular risk in Castile and Leon [Spain] through primary care teams].
A. Alonso (2007)
Mitochondrial genome sequencing in atherosclerosis: what's next?
Margarita A Sazonova (2016)
Reactive Oxygen Species: A Key Hallmark of Cardiovascular Disease
Nisha Panth (2016)
Characterization and prognostic significance of mitochondrial DNA variations in acute myeloid leukemia
Trine Silkjaer (2013)
High frequency of mitochondrial DNA mutations in glioblastoma multiforme identified by direct sequence comparison to blood samples
E. Kirches (2001)
Association of Mitochondrial Genetic Variation with Carotid Atherosclerosis
I. Sobenin (2013)
Reactive Oxygen Species and the Cardiovascular System
Y. Taverne (2013)
The mitochondrial DNA control region shows genetically correlated levels of heteroplasmy in leukocytes of centenarians and their offspring
G. Rose (2006)
A new duplication in the mitochondrially encoded tRNA proline gene in a patient with dilated cardiomyopathy
M.M.S.G. Cardena (2013)
The Mitochondrial T16189C Polymorphism Is Associated with Coronary Artery Disease in Middle European Populations
E. Mueller (2011)
High Rate of Mutation in Mitochondrial DNA Displacement Loop Region in Human Colorectal Cancer
Mansoureh Akouchekian (2009)
Frequency and Pattern of Heteroplasmy in the Complete Human Mitochondrial Genome
A. Ramos (2013)
Atherosclerosis in stroke‐related vascular beds and stroke risk: A 3‐D MR vessel wall imaging study
D. Li (2018)

Semantic Scholar Logo Some data provided by SemanticScholar