A preliminary analysis of mitochondrial DNA atlas in the type 2 diabetes patients

Li, Chunhong; Xiang, Yueying; Zhang, Yanyan; Tang, Donge; Yan, Chen; Xue, Wen; Wang, Xiaobin; Chen, Jiejing; Dai, Yong

doi:10.1007/s13410-021-01031-6

Cited by 3 publications

(4 citation statements)

References 36 publications

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“…Cellular reactive oxygen species (ROS) levels are associated with mutations in mtDNA and their frequency increases with age (12). Increased mutational loads of mtDNA have been linked with aging, neurodegenerative disorders (13), heart diseases (14) and diabetes (15). The association between mtDNA haplogroups and a wide range of diseases of metabolism, infectious diseases, degenerative and autoimmune disorders, and predisposition to various cancers is widely studied (16).…”

Section: Introductionmentioning

confidence: 99%

“…Approximately 537 million adults are affected by diabetes worldwide, of which type 2 diabetes accounts for 90% of all the reported diabetes cases and 541 million are at risk of developing type 2 diabetes (17). The role of mtDNA variants as potential genetic causes in the incidence of type 2 diabetes is evidently observed in a number of patients by studying the dysfunction of energy production machinery of mitochondria (15,16). Such variants cause mitochondrial anomalies and oxidative stress which affects pancreatic β-cells, thus leading to disease pathology (18).…”

Section: Introductionmentioning

confidence: 99%

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Mitochondrial coding and control region variants are associated with Type-2 Diabetes in Pakistani population

Farooq,

Naqvi,

Muhammad

et al. 2024

Preprint

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Background Sequence changes of human mitochondrial DNA (mtDNA) are involved in many human diseases. Mitochondrial DNA variants have been associated with development of type 2 diabetes, which is becoming more prevalent in the Pakistani population. We conducted a case-control study to investigate the role of mtDNA variants associated with diabetes in the Pakistani population. Results Analysis of the HVS2 region showed two variants m.309_310insCT and m.315dup were associated with diabetes. By analyzing complete mtDNA, no variant was found to have significantly different distribution between groups. However, comparison of our diabetic samples’ variants with 1000 Genome Project variants showed eight highly significant variations in mitochondrial genome, four in non-coding region i.e. (m.513G > A, m.195T > C, m.16189T > C, m.16265A > C) and four in coding regions i.e. m.9336A > G (CO-III gene), m.11935T > C (ND4 gene), m.14766C > T (CYB gene) and m.7193T > C (CO-I gene) the last one being a rare mitochondrial variant also. We also found one novel variant m.570C > CACCC in the diabetic group. Conclusion We found specific variations in the mitochondrial genome are associated with type 2 diabetes in the Pakistani patients. These findings suggest that mtDNA variations may play a role in the development of type 2 diabetes in the Pakistani population.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Mitochondrial coding and control region variants are associated with Type-2 Diabetes in Pakistani population

Farooq,

Naqvi,

Muhammad

et al. 2024

Preprint

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“…Due to this, the presence of mtDNA mutations in the tissues that participate in the regulation of metabolism can contribute to dysfunction and, therefore, to the development of metabolic diseases (Fex et al, 2018;Kwak et al, 2010;Weksler-Zangen, 2022). Thus, it has been reported that mitochondrial metabolism is involved in the processes that control insulin release from pancreatic β cells (Mulder, 2017), and its dysfunction due to mutations in the mtDNA would favor the development of diabetes (Guo et al, 2005;C. Li et al, 2022;Liao et al, 2008;Sikhayeva et al, 2017).…”

Section: Introductionmentioning

confidence: 99%

mtDNA Single Nucleotide Variants Associated with Type 2 Diabetes

García Gaona,

García Gregorio,

García Jimenez

et al. 2023

Preprint

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Type 2 diabetes (T2D) is a chronic systemic disease with a complex etiology, characterized by insulin resistance and mitochondrial dysfunction in various cell tissues. To explore this relationship, we conducted a secondary analysis of complete mtDNA sequences from 1,261 T2D patients and 1,105 control individuals. Our findings revealed significant associations between certain single nucleotide polymorphisms (SNPs) and T2D. Notably, the variants m.1438A>G (controls: 32 [27.6%], T2D: 84 [72.4%]; OR: 2.46; 95%CI: 1.64-3.78; p<0.001), m.14766C>T (controls: 498 [36.9%], T2D: 853 [63.1%]; OR: 2.57, 95%CI: 2.18-3.04, p<0.001), and m.16519T>C (controls: 363 [43.4%], T2D: 474 [56.6%]; OR: 1.24, 95%CI: 1.05-1.47, p=0.012) were significantly associated with diabetes probability. The variant m.16189T>C Previously reported in multiple studies in different populations, it was not found to be associated with T2D in our analysis (controls: 148 [13.39] T2D: 171 [13.56%]; OR: 1.03; 95%CI: 0.815-1.31,; p=0.83). These results provide evidence suggesting a link between some mtDNA polymorphisms and T2D, probably related to association rules and topological patterns and three-dimensional confirmation associated to regions where the changes are, rather than to point mutations in the sequence.

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“…Due to this, the presence of mtDNA mutations in the tissues that participate in the regulation of metabolism can contribute to dysfunction and, therefore, to the development of metabolic diseases [21][22][23]. Thus, it has been reported that mitochondrial metabolism is involved in the processes that control insulin release from pancreatic β cells [24], and its dysfunction due to mutations in the mtDNA would favor the development of diabetes [25][26][27][28] On the other hand, it has been reported that the presence of mutations in the mtDNA of insulin target tissues (like myocytes), and consequently mitochondrial dysfunction, plays a highly debated role in the development of diabetes [29,30].…”

Section: Introductionmentioning

confidence: 99%

mtDNA Single-Nucleotide Variants Associated with Type 2 Diabetes

Garcia-Gaona,

García-Gregorio,

García-Jiménez

et al. 2023

CIMB

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Type 2 diabetes (T2D) is a chronic systemic disease with a complex etiology, characterized by insulin resistance and mitochondrial dysfunction in various cell tissues. To explore this relationship, we conducted a secondary analysis of complete mtDNA sequences from 1261 T2D patients and 1105 control individuals. Our findings revealed significant associations between certain single-nucleotide polymorphisms (SNPs) and T2D. Notably, the variants m.1438A>G (rs2001030) (controls: 32 [27.6%], T2D: 84 [72.4%]; OR: 2.46; 95%CI: 1.64–3.78; p < 0.001), m.14766C>T (rs193302980) (controls: 498 [36.9%], T2D: 853 [63.1%]; OR: 2.57, 95%CI: 2.18–3.04, p < 0.001), and m.16519T>C (rs3937033) (controls: 363 [43.4%], T2D: 474 [56.6%]; OR: 1.24, 95%CI: 1.05–1.47, p = 0.012) were significantly associated with the likelihood of developing diabetes. The variant m.16189T>C (rs28693675), which has been previously documented in several studies across diverse populations, showed no association with T2D in our analysis (controls: 148 [13.39] T2D: 171 [13.56%]; OR: 1.03; 95%CI: 0.815–1.31; p = 0.83). These results provide evidence suggesting a link between specific mtDNA polymorphisms and T2D, possibly related to association rules, topological patterns, and three-dimensional conformations associated with regions where changes occur, rather than specific point mutations in the sequence.

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A preliminary analysis of mitochondrial DNA atlas in the type 2 diabetes patients

Cited by 3 publications

References 36 publications

Mitochondrial coding and control region variants are associated with Type-2 Diabetes in Pakistani population

Mitochondrial coding and control region variants are associated with Type-2 Diabetes in Pakistani population

mtDNA Single Nucleotide Variants Associated with Type 2 Diabetes

mtDNA Single-Nucleotide Variants Associated with Type 2 Diabetes

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