Mitochondrial DNA Copy Number in Peripheral Blood as a Potential Non-invasive Biomarker for Multiple Sclerosis

Al‐Κafaji, Ghada; Bakheit, Halla F.; Alharbi, Maram A.; Farahat, Ahmad A.; Jailani, Mohamed; Ebrahin, Bashayer H.; Bakhiet, Moiz

doi:10.1007/s12017-019-08588-w

Cited by 20 publications

(19 citation statements)

References 56 publications

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“…Indeed, the mtDNA content in peripheral blood is associated with the overall level of oxidative stress [ 40 ] and suggested as a biomarker associated with oxidative stress and inflammation [ 41 ]. In most studies to date, mtDNA-CN has been measured in the buffy coat [ 29 , 33 , 34 ] or whole blood samples [ 30 – 32 , 35 ]. In our study, we observed lower mtDNA-CN in psoriasis patients compared to controls.…”

Section: Discussionmentioning

confidence: 99%

“…Alterations in the mtDNA-CN have been also described in several diseases in which oxidative stress plays a significant role. Specifically, decreased mtDNA-CN in peripheral blood was reported in a number of autoimmune diseases such as rheumatoid arthritis and multiple sclerosis [ 29 , 30 ]. Decreased peripheral blood mtDNA-CN was also associated with cancer [ 31 ], type 2 diabetes [ 32 ], metabolic syndrome [ 33 ] and correlated with stroke [ 34 ], and the severity of coronary heart disease [ 35 ].…”

Section: Introductionmentioning

confidence: 99%

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Leukocyte mitochondrial DNA copy number is a potential non-invasive biomarker for psoriasis

2022

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Abnormalities in the mitochondria have been linked to psoriasis, a chronic immune-mediated inflammatory skin disease. The mitochondrial DNA (mtDNA) is present in thousands of copies per cell and altered mtDNA copy number (mtDNA-CN), a common indicator of mitochondrial function, has been proposed as a biomarker for several diseases including autoimmune diseases. In this case–control study, we investigated whether the mtDNA-CN is related to psoriasis, correlates with the disease duration and severity, and can serve as a disease biomarker. Relative mtDNA-CN as compared with nuclear DNA was measured by a quantitative real-time polymerase chain reaction in peripheral blood buffy coat samples from 56 patients with psoriasis and 44 healthy controls. The receiver operating characteristic (ROC) curve analysis was performed to evaluate the value of mtDNA-CN as a biomarker. We found that the mtDNA-CN was significantly decreased in patients with psoriasis compared to healthy controls (93.6±5.3 vs. 205±71; P = 0.04). Sub-group analyses with stratification of patients based on disease duration under or over 10 years and disease severity indicated that the mtDNA-CN was significantly lower in patients with longer disease duration (74±4.3 in disease duration >10 years vs. 79±8.3 in disease duration <10 years, P = 0.009), and higher disease severity (72±4.3 in moderate-to-severe index vs. 88.3 ± 6 in mild index, P = 0.017). Moreover, the mtDNA-CN was negatively correlated with the disease duration and disease severity (r = -0.36, P = 0.006; r = -0.41, P = 0.003 respectively). The ROC analysis of mtDNA-CN showed an area under the curve (AUC) of 0.84 (95% confidence interval: 0.69–0.98; P = 0.002) for differentiating patients from healthy controls. Our study suggests that low mtDNA-CN may be an early abnormality in psoriasis and associates with the disease progression. Our study also suggests that mtDNA-CN may be a novel blood-based biomarker for the early detection of psoriasis.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Leukocyte mitochondrial DNA copy number is a potential non-invasive biomarker for psoriasis

2022

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“…However, the nature of this decrease in mtDNA-CN is not immediately clear, as the literature diverges on the relationship between mtDNA-CN and diseases. In cross-sectional studies, mtDNA-CN was lower in diseases such as multiple sclerosis and Parkinson’s disease [ 13 , 14 ], while others have found lower levels of mtDNA-CN in normal pregnancies, when compared with pregnancies complicated with gestational diabetes [ 35 ]. Although no conclusion can be drawn on the role of mtDNA-CN from these studies, mtDNA-CN tends to correspond with changes in oxidative markers, such as 8-OHdG [ 35 – 37 ].…”

Section: Discussionmentioning

confidence: 99%

“…Mitochondria DNA copy number (mtDNA-CN) are also reduced in these patients [ 9 ]. Alterations in mtDNA-CN, which may be due to increased mitochondria replication [ 10 , 11 ] or destruction [ 12 ], represent functional disturbances of the mitochondria, and have been linked to a number of diseases [ 13 , 14 ]. The existance of alterations in mtDNA-CN in patients with PCOS [ 9 ] suggests an underlying dysfunction in the mitochondrion of these patients.…”

Section: Introductionmentioning

confidence: 99%

Changes in peripheral mitochondrial DNA copy number in metformin-treated women with polycystic ovary syndrome: a longitudinal study

Yang

Chou

Chang

et al. 2020

Reprod Biol Endocrinol

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Background: Patients with polycystic ovarian syndrome (PCOS) are associated with known alterations in mitochondria DNA copy number (mtDNA-CN). The aim of this study is to study the change in mtDNA-CN in patients with PCOS who were treated with metformin. Methods: This is a prospective cohort of patients with PCOS, who received metformin for one year. From 2009 to 2015, 88 women diagnosed with PCOS, based on the Rotterdam criteria, were enrolled. Serial measurements of mtDNA-CN, 8-hydroxydeoxyguanosine (8-OHdG), anthropometric, metabolic, endocrine, and inflammatory markers were obtained before and after 3, 6, and 12 months of treatment. Results: A significant decrease in mtDNA-CN was seen over the course of one year. Other markers, including 8-OHdG, testosterone, free androgen index, blood pressure and liver enzymes, also decreased in the same interval. On regression analysis, there was a significant association between the change in mtDNA-CN and serum total testosterone, and no association between mtDNA-CN and metabolic factors. Conclusions: Treatment with metformin is associated with a time-dependent decrease in mtDNA-CN in patients with PCOS who are treated over the course of one year. This may signify a reduction in mitochondria dysfunction. The change in mtDNA-CN corresponds to a similar change in serum total testosterone, and suggests a possible relationship between mtDNA-CN and testosterone.

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“…On the other hand, it has been also demonstrated that mutations in the mtDNA exacerbate ROS production, contributing to disease onset and progression [98]. Moreover, alterations of the mitochondrial genome in neurodegeneration have been demonstrated also in terms of variation of copy number [99], that significantly varies in neurodegenerative diseases in respect to healthy controls, and has been proposed as an innovative biomarker [100][101][102][103]. This evidence supports the hypothesis that the mitochondrial genome significantly influences both pathological (e.g., neurodegeneration) and physiological processes (e.g., aging) [104].…”

Section: Mitochondria In Neurodegeneration: the Interplay Between Oximentioning

confidence: 99%

Mitochondrial DNA and Neurodegeneration: Any Role for Dietary Antioxidants?

Bordoni

Gabbianelli

2020

Antioxidants

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The maintenance of the mitochondrial function is essential in preventing and counteracting neurodegeneration. In particular, mitochondria of neuronal cells play a pivotal role in sustaining the high energetic metabolism of these cells and are especially prone to oxidative damage. Since overproduction of reactive oxygen species (ROS) is involved in the pathogenesis of neurodegeneration, dietary antioxidants have been suggested to counteract the detrimental effects of ROS and to preserve the mitochondrial function, thus slowing the progression and limiting the extent of neuronal cell loss in neurodegenerative disorders. In addition to their role in the redox-system homeostasis, mitochondria are unique organelles in that they contain their own genome (mtDNA), which acts at the interface between environmental exposures and the molecular triggers of neurodegeneration. Indeed, it has been demonstrated that mtDNA (including both genetics and, from recent evidence, epigenetics) might play relevant roles in modulating the risk for neurodegenerative disorders. This mini-review describes the link between the mitochondrial genome and cellular oxidative status, with a particular focus on neurodegeneration; moreover, it provides an overview on potential beneficial effects of antioxidants in preserving mitochondrial functions through the protection of mtDNA.

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Mitochondrial DNA Copy Number in Peripheral Blood as a Potential Non-invasive Biomarker for Multiple Sclerosis

Cited by 20 publications

References 56 publications

Leukocyte mitochondrial DNA copy number is a potential non-invasive biomarker for psoriasis

Leukocyte mitochondrial DNA copy number is a potential non-invasive biomarker for psoriasis

Changes in peripheral mitochondrial DNA copy number in metformin-treated women with polycystic ovary syndrome: a longitudinal study

Mitochondrial DNA and Neurodegeneration: Any Role for Dietary Antioxidants?

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