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Somatic mitochondrial DNA (mtDNA) mutations in papillary thyroid carcinomas and differential mtDNA sequence variants in cases with thyroid tumours

Somatic mitochondrial DNA (mtDNA) mutations in papillary thyroid carcinomas and differential mtDNA sequence variants in cases with thyroid tumours,10.

Somatic mitochondrial DNA (mtDNA) mutations in papillary thyroid carcinomas and differential mtDNA sequence variants in cases with thyroid tumours   (Citations: 71)
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Somatic mutations in mtDNA have recently been identified in colorectal tumours. Studies of oncocytic tumours have led to hypotheses which propose that defects in oxidative phosphorylation may result in a compensatory increase in mitochondrial replication and/or gene expression. Mutational analysis of mtDNA in thyroid neoplasia, which is characterised by increased numbers of mitochondria and is also one of the most common sites of oncocytic tumours. has been limited to date. Using the recently developed technique of two-dimensional gene scanning, we have successfully examined 21 cases of thyroid tumours, six cases of non-neoplastic thyroid pathology, 30 population controls, nine foetal thyroid tissues and nine foetal tissues of non-thyroid origin, either kidney or liver. We have identified three different somatic mutations (23%) in papillary thyroid carcinomas. In addition, we have found significant differential distributions of mtDNA sequence variants between thyroid carcinomas and controls. Interestingly, these variants appear to be more frequent in the genes which encode complex I of the mitochondrial electron transport chain compared to normal population controls. These findings suggest first, that somatic mtDNA mutations may be involved in thyroid tumorigenesis and second, that the accumulation of certain non-somatic variants may be related to tumour progression in the thyroid.
Journal: Oncogene , vol. 19, no. 16, pp. 2060-2066, 2000
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    • ...The 10398G variant identified in PTC was also found as an inherited mutation in other individuals with non-PTC thyroid tumors as well as some normal controls [36]...
    • ...One could hypothesize that 10398G is a low-penetrance modifier of tumor risk that along with other mtDNA alterations may promote cancer development or arise as a consequence of nonspecific DNA damage, but cause and effect cannot be assigned at present [36]...

    Anna M. Czarneckaet al. Mitochondrial NADH-dehydrogenase subunit 3 (ND3) polymorphism (A10398G...

    • ...The mutations of this DNA have been implicated in the malfunction of the respiratory chain within the mitochondrial complex, particularly complex I. The chain can and is directly affected by reactive oxygen species (ROS), which have been implicated in the damage of DNA especially in slower growing tumors, such as breast, parathyroid, and papillary thyroid carcinoma [19]...

    Lee F. Starkeret al. Expression and somatic mutations of SDHAF2 (SDH5) , a novel endocrine ...

    • ...Yeh et al. in 2000 [18] and Maximo et al. in 2002 [21] described somatic mutations in 23% and 51.5% of thyroid tumours, respectively...
    • ...Furthermore, Yeh et al. [18] found, in comparison with a control population, a significant association between germline polymorphisms in complex I genes and the occurrence of thyroid tumours, whereas Maximo et al. [21] observed that germline polymorphisms in complexes I and IV were associated with the development of malignant thyroid tumours [18, 21]...
    • ...Furthermore, Yeh et al. [18] found, in comparison with a control population, a significant association between germline polymorphisms in complex I genes and the occurrence of thyroid tumours, whereas Maximo et al. [21] observed that germline polymorphisms in complexes I and IV were associated with the development of malignant thyroid tumours [18, 21]...
    • ...The importance of complex I and its dysfunction in thyroid tumourigenesis advanced by Yeh et al. [18] and Maximo et al. [21] has been supported by more recent studies...

    Valdemar Máximoet al. Mitochondria and cancer

    • ... Interesting, the reverse finding (A10398G mutation) was detected in thyroid carcinoma as well ...

    Suhail K. Mithaniet al. Mitochondrial Mutations in Adenoid Cystic Carcinoma of the Salivary Gl...

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