Involvement of mitochondrial haplogroups in myocardial infarction and stroke: A case-control study in Castile and Leon (Spain) population

Umbria, Miriam; Ramos, Ariel Delgado; Caner, Jennifer; Vega, Tomás; Lozano, José; Santos, Cristina; Aluja, María Pilar

doi:10.1016/j.mito.2017.12.004

Cited by 5 publications

(24 citation statements)

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“…Unlike the rest of mutations, it appears that m.72T>C and m.16356T>C have a high association with the haplogroups HV0 and U, respectively (Fig 2). These associations ceases to exist when compared the number of individuals identify in this article that belonging the haplogrup HV0 and have m.72T>C with the total of HV0 cases and controls samples detected by Umbria et al [24], shown that there are individuals belonging this haplogroup that do not have the m.72T>C. In the same line, note that the total number of individuals identify in this study that have m.16356T>C belongs to haplogroup U. Even though m.16356T>C define different subgroups of U (U2e3, U3a1c, U4 and U5b1), this result was obtained because in this analysis the haplogroup U included the rest of subhaplogrups of U detected.…”

Section: Resultsmentioning

confidence: 68%

“…Haplogroup assignment of all individuals analysed in this article was previously performed by Umbria et al [24]. In Fig 2 are shown the distribution of m.16145G>A and m.16311T>C for stroke and m.72T>C, m.73A>G and m.16356T>C for MI between the mtDNA haplogroups.…”

Section: Resultsmentioning

confidence: 95%

“…The percentages of m.16145G>A and m.16311T>C were overrepresented in stroke cases (5.2% and 18.2%, respectively) than controls (1.9% and 9.7%, respectively). After correction for the effect of CV risk factors with significant differences between stroke cases and controls (hypercholesterolemia [24]), significant association were still observed in m.16145G>A (conditional logistic regression: p=0.038; OR= 4.407, 95% CI [1.086-17.883]) and m.16311T>C (conditional logistic regression: p=0.018; OR= 2.417, 95% CI [1.165-5.016]), emerging as a possible genetic risks factors for stroke (Table 1).…”

Section: Resultsmentioning

confidence: 99%

“…The m.72T>C, m.73A>G and m.16356T>C were more frequent in MI controls (12.3%, 49.3% and 3.3%, respectively) than cases (7.6%, 38.9% and 1.4%, respectively). When corrected for the effect of CV risk factors with significant differences between MI cases and control (hypertension and hypercholesterolemia [24]), significant association was observed in these tree mutations (m.72T>C: conditional logistic regression: p=0.001; OR= 0.041, 95% CI [0.006-0.290], m.73A>G: conditional logistic regression: p=0.009; OR= 0.009, 95% CI [0.307-0.843] and m.16356T>C: conditional logistic regression: p= 0.016; OR= 0.091, 95% CI [0.013-0.639]), emerging as a possible protective genetic factors for MI (Table 3).…”

Section: Resultsmentioning

confidence: 99%

“…In this analysis, the frequency of point heteroplasmy was overrepresented in MI controls (n=11; 5.21%), differing significantly from cases (n=2; 0.94%) (p=0.022, McNemar’s test). This association remained significant (logistic regression: p=0.046; OR= 0.209, 95% CI [0.045-0.972]) even correcting for the effect of MI risk factors (hypertension and hypercholesterolemia [24]). These heteroplasmic positions involving nine different positions of the mtDNA: 73, 146, 150, 152, 204, 16092, 16093, 16129 and 16399.…”

Section: Resultsmentioning

confidence: 99%

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The role of control region mitochondrial DNA mutations in cardiovascular disease: stroke and myocardial infarction

Umbria¹,

Ramos²,

Aluja³

et al. 2018

Preprint

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2Recent studies associated certain type of cardiovascular disease (CVD) with 3 specific mitochondrial DNA (mtDNA) defects, mainly driven by the central role of 4 mitochondria in cellular metabolism. Considering the importance of the control region 5 (CR) on the regulation of the mtDNA gene expression, the aim of the present study was 6 to investigate the role of the mtDNA CR mutations in two CVDs: stroke and myocardial 7 infarction (MI). Both, fixed and heteroplasmy mutations of the mtDNA CR in two 8 population samples of demographically-matched case and controls, were analysed 9 using 154 stroke cases, 211 MI cases and their corresponding control individuals. 10 Significant differences were found between cases and controls, reporting the 11 m.16145G>A and m.16311T>C as a potential genetic risk factors for stroke (conditional 12 logistic regression: p=0.038 and p=0.018, respectively), whereas the m.72T>C, 13 m.73A>G and m.16356T>C could act as possible beneficial genetic factors for MI 14 (conditional logistic regression: p=0.001, p=0.009 and p=0.016, respectively). 15 Furthermore, our findings also showed a high percentage of point heteroplasmy in MI 16 controls (logistic regression: p=0.046; OR= 0.209, 95% CI [0.045-0.972]). These results 17 demonstrate the possible role of mtDNA mutations in the CR on the pathogenesis of 18 stroke and MI, and show the importance of including this regulatory region in genetic 19 association studies.Given the association between cardiovascular disease and specific mitochondrial 23 DNA (mtDNA) defects and considering the importance of the control region of this 24 genome on the regulation of mtDNA gene expression, here, we investigate the role of 25 mutations in mitochondrial DNA control region in two cardiovascular diseases: stroke 3 26 and myocardial infarction. In this study we found five mitochondrial genetic variants 27 related to cardiovascular disease, based on single nucleotide polymorphisms (SNPs), 28 which are located in the control region of mtDNA. Despite the abundance of work on 29 the role of mitochondrial DNA in relation to cardiovascular disease, little literature has 30 been published on the variation that this genome expresses in relation to this disease. 31For this reason, our study provides significant insight of the genetic variability that 32 determines normality or pathology in relation to the genetic risk of cardiovascular 33 disease. The results obtained demonstrate the possible role of mtDNA mutations in the 34 control region on the pathogenesis of stroke and myocardial infarction, and show the 35 importance of including this regulatory region in genetic association studies. 36 37 48(O H ), three conserved sequence blocks and the termination associated sequences (TAS) 49[3]. MtDNA is more susceptible than nuclear DNA to oxidative damage, probably due 50 to the lack histone complex and an inefficient DNA repair mechanisms, which may 4 51 serve as a protective barrier against external and internal noxious agents as reactive 52 oxygen species (ROS) [4]. ...

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Section: Resultsmentioning

confidence: 68%

Section: Resultsmentioning

confidence: 95%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

See 3 more Smart Citations

The role of control region mitochondrial DNA mutations in cardiovascular disease: stroke and myocardial infarction

Umbria¹,

Ramos²,

Aluja³

et al. 2018

Preprint

Self Cite

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show abstract

Blood-based bioenergetics: An emerging translational and clinical tool

Braganza¹,

Annarapu²,

Shiva

2020

Molecular Aspects of Medicine

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Accumulating studies demonstrate that mitochondrial genetics and function are central to determining the susceptibility to, and prognosis of numerous diseases across all organ systems. Despite this recognition, mitochondrial function remains poorly characterized in humans primarily due to the invasiveness of obtaining viable tissue for mitochondrial studies. Recent studies have begun to test the hypothesis that circulating blood cells, which can be obtained by minimally invasive methodology, can be utilized as a biomarker of systemic bioenergetic function in human populations. Here we present the available methodologies for assessing blood cell bioenergetics and review studies that have applied these techniques to healthy and disease populations. We focus on the validation of this methodology in healthy subjects, as well as studies testing whether blood cell bioenergetics are altered in disease, correlate with clinical parameters, and compare with other methodology for assessing human mitochondrial function. Finally, we present the challenges and goals for the development of this emerging approach into a tool for translational research and personalized medicine.

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

Onieva,

Martin,

R. Cuesta-Aguirre

et al. 2023

Mitochondrion

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Involvement of mitochondrial haplogroups in myocardial infarction and stroke: A case-control study in Castile and Leon (Spain) population

Cited by 5 publications

References 50 publications

The role of control region mitochondrial DNA mutations in cardiovascular disease: stroke and myocardial infarction

The role of control region mitochondrial DNA mutations in cardiovascular disease: stroke and myocardial infarction

Blood-based bioenergetics: An emerging translational and clinical tool

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

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