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Cytogenetic damage in peripheral lymphocytes of mitochondrial disease patients
A Naccarati1, S Molinu, M Mancuso
1Department of Human and Environmental Sciences, University of Pisa, Via S. Giuseppe 22, Pisa, Italy.
Abstract:
Recent studies indicate an important role of endogenous oxidative stress in the onset and/or in the progression of mitochondrial encephalomyopathies. In particular, the increased production of radical species caused by altered mitochondrial functionality could affect both mitochondrial and nuclear DNA integrity. We performed the micronucleus assay coupled with fluorescence in situ hybridization (FISH) to detect chromosome damage in peripheral blood lymphocytes in a group of patients affected by different forms of mitochondrial encephalomyopathies. Moreover the comet assay has been carried out to detect primary and oxidative damage in the nuclear DNA. Our results show a significant presence of both DNA and chromosome damage in patients compared to a matched group of controls. A reduction in DNA alterations is also observed in patients after treatment with coenzyme-Q10.
Insights
Mitochondrial encephalomyopathies are linked to oxidative stress, causing DNA and chromosome damage. Coenzyme-Q10 treatment showed a reduction in these DNA alterations in patients.
Area of Science:
- Biochemistry
- Genetics
- Cell Biology
Background:
- Oxidative stress plays a key role in mitochondrial encephalomyopathies.
- Altered mitochondrial function increases radical species, potentially damaging nuclear and mitochondrial DNA.
Purpose of the Study:
- To assess DNA and chromosome damage in patients with mitochondrial encephalomyopathies.
- To investigate the effect of coenzyme-Q10 on DNA integrity in these patients.
Main Methods:
- Micronucleus assay with fluorescence in situ hybridization (FISH) on lymphocytes.
- Comet assay to detect primary and oxidative DNA damage.
- Comparison between patients and a matched control group.
Main Results:
- Patients showed significant DNA and chromosome damage compared to controls.
- Coenzyme-Q10 treatment led to a decrease in DNA alterations in patients.
Conclusions:
- Endogenous oxidative stress contributes to DNA damage in mitochondrial encephalomyopathies.
- Coenzyme-Q10 may be a beneficial therapeutic agent for reducing DNA damage in these conditions.