Association between a common mitochondrial DNA D-loop polycytosine variant and alteration of mitochondrial copy number in human peripheral blood cells

Cw, Liou; Lin, Tao; Jb, Chen; Mm, Tiao; Sw, Weng; Sd, Chen; Yc, Chuang; Chuang, Jeffrey H.; Pw, Wang

doi:10.1136/jmg.2010.077552

Cited by 72 publications

(85 citation statements)

References 24 publications

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“…The DNA levels of the human mitochondrial ND1 (NADH dehydrogenase 1) gene and nuclear 18 S rRNA were determined by real-time PCR quantification. The relative mtDNA content was reflected by the ratio of DNA levels between mitochondrial ND1 and nuclear 18 S rRNA as described previously (26).…”

Section: Methodsmentioning

confidence: 99%

MicroRNA-27 (miR-27) Targets Prohibitin and Impairs Adipocyte Differentiation and Mitochondrial Function in Human Adipose-derived Stem Cells

Ting

Wan

et al. 2013

Journal of Biological Chemistry

143

123

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Background: Prohibitin is essential in adipocyte differentiation and mitochondrial functions, but the regulative mechanisms of prohibitin by microRNA remain unclear. Results: miR-27 negatively regulates adipogenesis by targeting prohibitin and impairing mitochondrial biogenesis, structure, and activity. Conclusion: miR-27 targets prohibitin and suppresses adipocyte differentiation. Significance: Manipulation of miR-27 may offer opportunities for the therapeutic modulation of adipogenesis in obesity.

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Section: Methodsmentioning

confidence: 99%

MicroRNA-27 (miR-27) Targets Prohibitin and Impairs Adipocyte Differentiation and Mitochondrial Function in Human Adipose-derived Stem Cells

Ting

Wan

et al. 2013

Journal of Biological Chemistry

143

123

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“…When the T16189C polymorphism is accompanied by a second nucleotide change, which is often the case at np 16192, the poly-C is interrupted again. Liou et al showed that different poly-C variants showed differences in mean mtDNA copy numbers [38]. Subjects with an uninterrupted poly-C had the lowest mtDNA copy number, whereas subjects harboring an interrupted poly-C showed the highest mtDNA copy number.…”

Section: Discussionmentioning

confidence: 99%

Mitochondrial Haplogroups, Control Region Polymorphisms and Malignant Melanoma: A Study in Middle European Caucasians

et al. 2011

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BackgroundBecause mitochondria play an essential role in energy metabolism, generation of reactive oxygen species (ROS), and apoptosis, sequence variation in the mitochondrial genome has been postulated to be a contributing factor to the etiology of multifactorial age-related diseases, including cancer. The aim of the present study was to compare the frequencies of mitochondrial DNA (mtDNA) haplogroups as well as control region (CR) polymorphisms of patients with malignant melanoma (n = 351) versus those of healthy controls (n = 1598) in Middle Europe.Methodology and Principal FindingsUsing primer extension analysis and DNA sequencing, we identified all nine major European mitochondrial haplogroups and known CR polymorphisms. The frequencies of the major mitochondrial haplogroups did not differ significantly between patients and control subjects, whereas the frequencies of the one another linked CR polymorphisms A16183C, T16189C, C16192T, C16270T and T195C were significantly higher in patients with melanoma compared to the controls. Regarding clinical characteristics of the patient cohort, none of the nine major European haplogroups was associated with either Breslow thickness or distant metastasis. The CR polymorphisms A302CC-insertion and T310C-insertion were significantly associated with mean Breslow thickness, whereas the CR polymorphism T16519C was associated with metastasis.Conclusions and SignificanceOur results suggest that mtDNA variations could be involved in melanoma etiology and pathogenesis, although the functional consequence of CR polymorphisms remains to be elucidated.

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“…The C150T transition of mtDNA D-loop was found to cause the change of the mtDNA 151 replication origin in human leukocytes and fibroblasts and associate with the longevity of human being . A variable length of poly-C tract was found to generate from a T-to-C transition at a specific position of mtDNA (np16189 or D-loop np667) and interfere with mtDNA replication, resulting in a series of diseases (Liou et al 2010). The T-to-C transition of mtDNA np16189 was confirmed to be a predisposing genetic factor for the development of insulin resistance which associated with the pathogenesis of diabetes mellitus, stroke, and cardiovascular diseases (Liou et al 2004).…”

Section: Discussionmentioning

confidence: 93%

Mitochondrial DNA D-loop AG/TC transition mutation in cortical neurons of mice after long-term exposure to nucleoside analogues

et al. 2015

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With the wide application of combined antiretroviral therapy, the prognosis of human immunodeficiency virus (HIV)-1 infected patient has been significantly improved. However, long-term administration of antiretroviral drugs can result in various drug-associated toxicities. Among them, nucleoside analogues were confirmed to inhibit DNA polymerase gamma, resulting in mitochondrial toxicity. Our previous study indicated that long-term exposure of mice to nucleoside analogue could induce mitochondria DNA (mtDNA) loss in cortical neurons. Herein, we further identify mitochondrial toxicity of four nucleoside analogues (zidovudine (AZT), stavudine (D4T), lamivudine (3TC), and didanosine (DDI)) by cloning and sequencing mtDNA D-loop region in mice neurons captured with laser capture microdissection. The results showed that mutation of neuronal mtDNA D-loop sequences increased in mice treated with each of the four nucleoside analogues for 4 months and D4T and DDI induced more severe D-loop lesion than the other two nucleoside analogues. The major type of D-loop point mutations induced by four nucleoside analogues was transition, in particular of "A→G" and "T→C" transition, but the point transition sites were variable. Our findings suggest that long-term exposure to nucleoside analogue can result in mtDNA D-loop region lesion in mouse cortical neurons.

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Association between a common mitochondrial DNA D-loop polycytosine variant and alteration of mitochondrial copy number in human peripheral blood cells

Abstract: Our results substantiate a previous suggestion that the mtDNA 16189 variant can cause alteration of mtDNA copy number in human blood cells.

Cited by 72 publications

References 24 publications

MicroRNA-27 (miR-27) Targets Prohibitin and Impairs Adipocyte Differentiation and Mitochondrial Function in Human Adipose-derived Stem Cells

MicroRNA-27 (miR-27) Targets Prohibitin and Impairs Adipocyte Differentiation and Mitochondrial Function in Human Adipose-derived Stem Cells

Mitochondrial Haplogroups, Control Region Polymorphisms and Malignant Melanoma: A Study in Middle European Caucasians

Mitochondrial DNA D-loop AG/TC transition mutation in cortical neurons of mice after long-term exposure to nucleoside analogues

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