Journal Article

Differential mutation frequency in mitochondrial DNA from thyroid tumours

H.D. Lohrer, L. Hieber and H. Zitzelsberger

in Carcinogenesis

Volume 23, issue 10, pages 1577-1582
Published in print October 2002 | ISSN: 0143-3334
Published online October 2002 | e-ISSN: 1460-2180 | DOI:
Differential mutation frequency in mitochondrial DNA from thyroid tumours

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  • Clinical Cytogenetics and Molecular Genetics


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Lack of a chromatin structure and histone protection makes mitochondrial DNA susceptible to oxidative damage. Suboptimal DNA repair leads to a higher frequency of mitochondrial mutations, which are associated with aging, carcinogenesis and environmental insult. The instability of the hypervariable region II of the mitochondrial genome was investigated in radiation-associated thyroid tumours, which were diagnosed in children from Belarus after the accident at the Chernobyl nuclear power plant, and from 40 sporadic thyroid tumours from Munich. Two mutations were identified in two out of 126 tumours from Belarus, and eight mutations were found in six out of 40 tumours from Munich. All mutations were deletions or insertions of C in a poly-cytidine (C7TC6) microsatellite. The mutation frequency correlated with the age of the patients at surgery. Mutations with the typical pattern of base substitutions following oxidative DNA damage were not identified.

Keywords: mtDNA, mitochondrial DNA; MSI, microsatellite instability; ROS, reactive oxygen species

Journal Article.  5220 words.  Illustrated.

Subjects: Clinical Cytogenetics and Molecular Genetics

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