Analysis of mitochondrial genome revealed a rare 50bp deletion and substitutions in a family with hypertension

Elango, S; Govindaraj, Periyasamy; Vishwanadha, Vijaya Padma; Reddy, Alla G.; Tamang, Rakesh; Muthusami, Uthiralingam; Kunnoth, Sreejith; Koyilil, Vijaya Kumar; Lakshman, MohanaKrishnan; Shanmugasundharam, N.; Singh, Lalji; Thangaraj, Kumarasamy

doi:10.1016/j.mito.2011.07.002

Cited by 10 publications

(4 citation statements)

References 43 publications

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“…Even though the linkage of autosome mutations with atherosclerosis has been reported [ 3 – 6 ], not much research was devoted so far to analysis of mitochondrial genome defects [ 7 – 11 ]. The majority of such works was devoted to large-scale deletions [ 8 , 12 , 13 ]. In our preliminary study, which focused on an analysis of 42 mitochondrial genome mutations associated with different pathologies, 11 mutations (m.652delG, m.1555G>A, m.3256C>T, m.3336C>T, m.5178C>A, m.652insG, m.15059G>A, m.13513G>A, m.14459G>A, m.14846G>A, and m.12315G>A) linked with atherosclerosis of aorta were detected [ 14 – 18 ].…”

Section: Introductionmentioning

confidence: 99%

Role of Mitochondrial Genome Mutations in Pathogenesis of Carotid Atherosclerosis

Sazonova

Sinyov

Рыжкова

et al. 2017

Oxidative Medicine and Cellular Longevity

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Mutations of mtDNA, due to their higher frequency of occurrence compared to nuclear DNA mutations, are the most promising biomarkers for assessing predisposition of the occurrence and development of atherogenesis. The aim of the present article was an analysis of correlation of several mitochondrial genome mutations with carotid atherosclerosis. Leukocytes from blood of study participants from Moscow polyclinics were used as research material. The sample size was 700 people. The sample members were diagnosed with “atherosclerosis” on the basis of ultrasonographic examination and biochemical and molecular cell tests. DNA was isolated from blood leukocyte samples of the study participants. PCR fragments of DNA, containing the region of 11 investigated mutations, were pyrosequenced. The heteroplasmy level of these mutations was detected. Statistical analysis of the obtained results was performed using the software package SPSS 22.0. According to the obtained results, an association of mutations m.652delG, m.3336C>T, m.12315G>A, m.14459G>A m.15059G>A with carotid atherosclerosis was found. These mutations can be biomarkers for assessing predisposition to this disease. Additionally, two single nucleotide substitutions (m.13513G>A and m.14846G>A), negatively correlating with atherosclerotic lesions, were detected. These mutations may be potential candidates for gene therapy of atherosclerosis and its risk factors.

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Section: Introductionmentioning

confidence: 99%

Role of Mitochondrial Genome Mutations in Pathogenesis of Carotid Atherosclerosis

Sazonova

Sinyov

Рыжкова

et al. 2017

Oxidative Medicine and Cellular Longevity

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“…Therefore, while some studies investigating phenotypes included in CVDs have reported results that support a role for mtDNA in CVD, 116 , 117 , 119 , 120 there are also conflicting reports. 115 , 118 , 121 This is not only common in CVD-related literature, but all areas where haplogroup association studies have been applied.…”

Section: Current Approaches Used For Investigating Mtdna Involvement mentioning

confidence: 99%

The aetiology of cardiovascular disease: a role for mitochondrial DNA?

Venter

Westhuizen

Elson

2018

CVJA

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SummaryCardiovascular disease (CVD) is a world-wide cause of mortality in humans and its incidence is on the rise in Africa. In this review, we discuss the putative role of mitochondrial dysfunction in the aetiology of CVD and consequently identify mitochondrial DNA (mtDNA) variation as a viable genetic risk factor to be considered. We then describe the contribution and pitfalls of several current approaches used when investigating mtDNA in relation to complex disease. We also propose an alternative approach, the adjusted mutational load hypothesis, which would have greater statistical power with cohorts of moderate size, and is less likely to be affected by population stratification. We therefore address some of the shortcomings of the current haplogroup association approach. Finally, we discuss the unique challenges faced by studies done on African populations, and recommend the most viable methods to use when investigating mtDNA variation in CVD and other common complex disease.

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“…The 50-bp deletion (m.298_347del50) in the mtDNA control region removes the conserved sequence block II (CSBII) and the replication primer location (51-53). This deletion, co-occurring with two novel mutations (ND1 C3519T and ND5 G13204A), accounted for the complex clinical traits, including hypertension, T2D and coronary artery disease (CAD) in an Indian family (54). Of note, two short homologous direct repeats of CCAAACCCC flanked the 50-bp deletion.…”

Section: -Bp Deletionmentioning

confidence: 99%

Mitochondrial DNA mutations and essential hypertension (Review)

Ding¹,

Xia²,

Yu³

et al. 2013

International Journal of Molecular Medicine

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Essential hypertension (EH) is a frequent, chronic, age-related disorder, which remains a major modifiable risk factor for cardiovascular disease despite important advances in our understanding of its pathophysiology. Previous studies have noted a consistent maternal effect on blood pressure (BP). Consequently, mutations in mitochondrial DNA (mtDNA) have become an additional target of investigations on the missing BP heritability. Among these mutations, mt-transfer RNA (tRNA) is a hot mutational spot for pathogenic mutations associated with EH. Mutant mtDNA aggravates mitochondrial dysfunction, pivotally contributing to the clinical phenotype. Moreover, the damaged mitochondria, due to their inability to provide the high-energy requirements for cells, generate reactive oxygen species (ROS) and induce mitochondrial-mediated cell death pathways. Therefore, mitochondrial dysfunction plays a critical role in the pathogenesis of EH. This review summarizes the basic knowledge of mitochondrial genetics and EH-associated mtDNA mutations and further discusses the molecular mechanisms behind these mtDNA mutations in clinical manifestations of EH.

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Analysis of mitochondrial genome revealed a rare 50bp deletion and substitutions in a family with hypertension

Cited by 10 publications

References 43 publications

Role of Mitochondrial Genome Mutations in Pathogenesis of Carotid Atherosclerosis

Role of Mitochondrial Genome Mutations in Pathogenesis of Carotid Atherosclerosis

The aetiology of cardiovascular disease: a role for mitochondrial DNA?

Mitochondrial DNA mutations and essential hypertension (Review)

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