Novel variants of mitochondrial DNA associated with Type 2 diabetes mellitus in Moroccan population

Charoute, Hicham; Kéfi, Rym; Bounaceur, Safaa; Benrahma, Houda; Reguig, Ahmed; Kandil, Mostafa; Rafiey, Hassan; Bakhchane, Amina; Abdelhak, Sonia; Barakat, Abdelhamid

doi:10.1080/24701394.2016.1233530

Cited by 4 publications

(2 citation statements)

References 26 publications

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“…As an ATP-generating site, mitochondria play an important role in insulin secretion and variation in mitochondrial DNA has been linked to an increased risk of diabetes. Studies have associated polymorphisms within the mitochondrial DNA to be related to T2D, among which the most common mutation A3243G in the D tRNA gene (Leu, UUR) is closely related to diabetes, affecting oxidative phosphorylation and poor insulin secretion (7). The present study aimed to determine the genetic variation (mutations) in ATPase genes in diabetic patients and compare them with healthy individuals.…”

Section: Introductionmentioning

confidence: 96%

A study of ATPase gene variants of mitochondrial DNA in patients with Type 2 diabetes mellitus

Alhussona¹,

Al-Musawi²,

Jalood³

et al. 2023

Biomedicine

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Introduction and Aim: Diabetes mellitus is a complex disease that is a major global health problem. It is defined as a chronic metabolic disease characterized by high blood glucose levels. Diabetes risk has been linked to genetic variations within mitochondrial DNA. The current study sought to identify and compare genetic variation (mutations) in ATPase genes in diabetic patients and healthy individuals. Materials and Methods: This study included 100 individuals (50 T2DM patients and 50 healthy volunteers). Peripheral blood samples were collected from each individual and DNA extracted. The mitochondrial mtATPase genes were amplified using specific primers by polymerase chain reaction. The amplified products were sequenced, and the sequences obtained analyzed for nucleotide changes. Results: The ATPase gene sequence analysis revealed nine nucleotide changes, three of which (A9039G, G9092A, and G9100T) are classified as polymorphisms in the human mitochondrial genome database. Furthermore, we presented the first description of mutations in ATPase genes such as (A8586G, C8637T, G8813A, A8953G, C8981T and T9024G). The A9039G mutation changed the amino acid isoleucine to glycine, the G9100T mutation changed the amino acid serine to isoleucine, and the C8981G mutation changed the amino acid threonine to isoleucine. Most patients were found to predict haplogroup H2a (H2a2), in addition to having H1c (H1c3) and L1c(L1c2). The presence of genetic variations in mtATPase genes may be an inheritable risk factor for type 2 diabetes mellitus pathogenesis. Conclusion: Variants in ATPase mitochondrial genes may be one of the risk factors associated with type 2 diabetes. Hence, documenting these mutations is clinically important in the possibility of diagnosing diabetes, as well as the likelihood that these mutations could be pathogenic.

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Section: Introductionmentioning

confidence: 96%

A study of ATPase gene variants of mitochondrial DNA in patients with Type 2 diabetes mellitus

Alhussona¹,

Al-Musawi²,

Jalood³

et al. 2023

Biomedicine

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show abstract

“…Variant G16390A was weakly associated with T2D in Tunisian population ( Hsouna et al, 2015 ). C16270T and C16320T was found to be significantly associated with increased risk of T2D in Moroccan population ( Charoute et al, 2018 ). The poly C tract (16184-16193) of HV1 had been the prime focus of many association studies ( Liao et al, 2008 ; Meiloud et al, 2013 ; Mueller et al, 2011 ; Palmieri et al, 2011 ; Saldaña-Rivera et al, 2018 ).…”

Section: Introductionmentioning

confidence: 99%

Evaluation of D-loop hypervariable region I variations, haplogroups and copy number of mitochondrial DNA in Bangladeshi population with type 2 diabetes

Saha

Saba

Hasib

et al. 2021

Heliyon

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The profound impact of mitochondrion in cellular metabolism has been well documented. Since type 2 diabetes (T2D) is a metabolic disorder, mitochondrial dysfunction is intricately linked with the disease pathogenesis. Mitochondrial DNA (mtDNA) variants are involved with functional dysfunction of mitochondrion and play a pivotal role in the susceptibility to T2D. In this study, we opted to find the association of mtDNA variants within the D-loop hypervariable region I (HVI), haplogroups and mtDNA copy number with T2D in Bangladeshi population. A total of 300 unrelated Bangladeshi individuals (150 healthy and 150 patients with T2D) were recruited in the present study, their HVI regions were amplified and sequenced using Sanger chemistry. Haplogrep2 and Phylotree17 tools were employed to determine the haplogroups. MtDNA copy number was measured using primers of mitochondrial tRNA Leu (UUR) gene and nuclear β2-microglobulin gene. Variants G16048A (OR:0.12, p = 0.04) and G16129A (OR: 0.42, p = 0.007) were found to confer protective role against T2D according to logistic regression analysis. However along with G16129A, two new variants C16294T and T16325C demonstrated protective role against T2D when age and gender were adjusted. Haplogroups A and H showed significant association with the risk of T2D after adjustments out of total 19 major haplogroups identified. The mtDNA copy numbers were stratified into 4 groups according to the quartiles (groups with lower, medium, upper and higher mtDNA copy numbers were respectively designated as LCN, MCN, UCN and HCN). Patients with T2D had significantly lower mtDNA copy number compared to their healthy counterparts in HCN group. Moreover, six mtDNA variants were significantly associated with mtDNA copy number in the participants. Thus, our study confers that certain haplogroups and novel variants of mtDNA are significantly associated with T2D while decreased mtDNA copy number (though not significant) has been observed in patients with T2D. However, largescale studies are warranted to establish association of novel variants and haplogroup with type 2 diabetes.

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

Xiang

Zhang

et al. 2022

Int J Diabetes Dev Ctries

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Novel variants of mitochondrial DNA associated with Type 2 diabetes mellitus in Moroccan population

Cited by 4 publications

References 26 publications

A study of ATPase gene variants of mitochondrial DNA in patients with Type 2 diabetes mellitus

A study of ATPase gene variants of mitochondrial DNA in patients with Type 2 diabetes mellitus

Evaluation of D-loop hypervariable region I variations, haplogroups and copy number of mitochondrial DNA in Bangladeshi population with type 2 diabetes

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

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