Association between mitochondrial DNA haplogroup variation and coronary artery disease

Xiao, Fangyi; Li, Meinan; Wang, Junyi; Liu, Jiangtao; Li, Jin; Fang, Hezhi; Lyu, Jianxin; Shen, Lijun

doi:10.1016/j.numecd.2020.03.006

Cited by 3 publications

(4 citation statements)

References 33 publications

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“…On the other hand, other important studies in human white blood cells comparing healthy controls with patients with significant CAD (properly evaluated by coronary angiogram) do not report any clinical information about the age of presentation or CAD presented as an acute coronary event [ 8 , 25 , 38 , 39 , 40 ]. Moreover, a Chinese study of mtDNA haplogroups found no association with the occurrence of CAD [ 24 ]. In this context, an interesting study performed on blood samples from healthy persons and patients with asymptomatic atherosclerosis identified seven homoplasmy mutations in mtDNA more frequently detected in atherosclerosis were identified, one of them C16223T [ 17 ].…”

Section: Discussionmentioning

confidence: 99%

“…As a result, differences in the haplogroups have been associated with adaptation to exercise or susceptibility to developing several diseases [ 19 , 20 , 21 , 22 ]. In reference to CAD, some authors have reported a significantly increased risk for haplogroups H and T, but others failed to confirm these associations [ 8 , 23 , 24 , 25 , 26 , 27 , 28 , 29 ].…”

Section: Introductionmentioning

confidence: 99%

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Mitochondrial Heteroplasmy as a Marker for Premature Coronary Artery Disease: Analysis of the Poly-C Tract of the Control Region Sequence

Lorca

Aparicio

Gómez

et al. 2023

JCM

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Mitochondrial DNA (mtDNA) differs from the nuclear genome in many aspects: a maternal inheritance pattern; being more prone to acquire somatic de novo mutations, accumulative with age; and the possible coexistence of different mtDNA alleles (heteroplasmy). Mitochondria are key cellular organelles responsible for energy production and involved in complex mechanisms, including atherosclerosis. In this scenario, we aimed to evaluate mtDNA variants that could be associated with premature cardiovascular disease. We evaluated 188 consecutive patients presenting with premature myocardial infarction with ST elevation (STEMI) confirmed by coronary angiogram. mtDNA polymorphisms and clinical data were evaluated and compared with 271 individuals from the same population (control group). Tobacco consumption (80.85% vs. 21.21%, p < 0.01) and dyslipidemia (38.83% vs. 28.41%, p = 0.02) were significantly more frequent among STEMI patients. Moreover, C16223T mtDNA mutation and poly-C heteroplasmy were significantly more frequent among premature STEMI male patients than in controls. The OR associated C16223T mtDNA with the increased presence of cardiovascular risk factors. Our data suggest that mtDNA 16223T and heteroplasmy may be associated with unstable premature atherosclerosis disease in men. Moreover, the presence of cardiovascular risk factors (CVRFs) was associated with C16223T mtDNA, with a cumulative effect. Protective mitochondrial pathways are potential therapeutic targets. Preventing exposure to the damaging mechanisms associated with CVRFs is of utmost importance.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Mitochondrial Heteroplasmy as a Marker for Premature Coronary Artery Disease: Analysis of the Poly-C Tract of the Control Region Sequence

Lorca

Aparicio

Gómez

et al. 2023

JCM

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“…In humans, mtDNA is only inherited via the maternal line as a single unit called a haplotype, which may be shared by populations with similar ancestries. Factually, a set of haplotypes or a haplogroup can be used to distinguish across populations or ethnic groupings while certain haplogroups have advantages for environmental adaptation but are also linked to cancer [ 142 , 143 , 144 , 145 , 146 , 147 , 148 , 149 ].…”

Section: Heteroplasmy Provides Unique Profiles In Cancermentioning

confidence: 99%

Mitochondrial Metabolism: A New Dimension of Personalized Oncology

Behnam

Taghizadeh‐Hesary

2023

Cancers

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Energy is needed by cancer cells to stay alive and communicate with their surroundings. The primary organelles for cellular metabolism and energy synthesis are mitochondria. Researchers recently proved that cancer cells can steal immune cells’ mitochondria using nanoscale tubes. This finding demonstrates the dependence of cancer cells on normal cells for their living and function. It also denotes the importance of mitochondria in cancer cells’ biology. Emerging evidence has demonstrated how mitochondria are essential for cancer cells to survive in the harsh tumor microenvironments, evade the immune system, obtain more aggressive features, and resist treatments. For instance, functional mitochondria can improve cancer resistance against radiotherapy by scavenging the released reactive oxygen species. Therefore, targeting mitochondria can potentially enhance oncological outcomes, according to this notion. The tumors’ responses to anticancer treatments vary, ranging from a complete response to even cancer progression during treatment. Therefore, personalized cancer treatment is of crucial importance. So far, personalized cancer treatment has been based on genomic analysis. Evidence shows that tumors with high mitochondrial content are more resistant to treatment. This paper illustrates how mitochondrial metabolism can participate in cancer resistance to chemotherapy, immunotherapy, and radiotherapy. Pretreatment evaluation of mitochondrial metabolism can provide additional information to genomic analysis and can help to improve personalized oncological treatments. This article outlines the importance of mitochondrial metabolism in cancer biology and personalized treatments.

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“…In fact, a set of haplotypes or haplogroup is useful for identifying ethnic groups or populations [ 35 ]. Studies suggest that specific haplogroups have conferred environmental adaptive advantages but are also associated with diseases such as cancer [ 36 , 37 , 38 , 39 , 40 , 41 , 42 ].…”

Section: Mitochondrial Genomementioning

confidence: 99%

Mitochondrial Heteroplasmy Shifting as a Potential Biomarker of Cancer Progression

Pérez-Amado

Bazan-Cordoba

Hidalgo‐Miranda

et al. 2021

IJMS

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Cancer is a serious health problem with a high mortality rate worldwide. Given the relevance of mitochondria in numerous physiological and pathological mechanisms, such as adenosine triphosphate (ATP) synthesis, apoptosis, metabolism, cancer progression and drug resistance, mitochondrial genome (mtDNA) analysis has become of great interest in the study of human diseases, including cancer. To date, a high number of variants and mutations have been identified in different types of tumors, which coexist with normal alleles, a phenomenon named heteroplasmy. This mechanism is considered an intermediate state between the fixation or elimination of the acquired mutations. It is suggested that mutations, which confer adaptive advantages to tumor growth and invasion, are enriched in malignant cells. Notably, many recent studies have reported a heteroplasmy-shifting phenomenon as a potential shaper in tumor progression and treatment response, and we suggest that each cancer type also has a unique mitochondrial heteroplasmy-shifting profile. So far, a plethora of data evidencing correlations among heteroplasmy and cancer-related phenotypes are available, but still, not authentic demonstrations, and whether the heteroplasmy or the variation in mtDNA copy number (mtCNV) in cancer are cause or consequence remained unknown. Further studies are needed to support these findings and decipher their clinical implications and impact in the field of drug discovery aimed at treating human cancer.

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Association between mitochondrial DNA haplogroup variation and coronary artery disease

Cited by 3 publications

References 33 publications

Mitochondrial Heteroplasmy as a Marker for Premature Coronary Artery Disease: Analysis of the Poly-C Tract of the Control Region Sequence

Mitochondrial Heteroplasmy as a Marker for Premature Coronary Artery Disease: Analysis of the Poly-C Tract of the Control Region Sequence

Mitochondrial Metabolism: A New Dimension of Personalized Oncology

Mitochondrial Heteroplasmy Shifting as a Potential Biomarker of Cancer Progression

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