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

Jen Jen Yeh, Kathryn L. Lunetta, Nathalie J. Van Orsouw, Francis D. Moore, George L. Mutter, Jan Vijg, Patricia Lm Dahia, Charis Eng

Research output: Contribution to journalArticle

138 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)2060-2066
Number of pages7
JournalOncogene
Volume19
Issue number16
StatePublished - Apr 13 2000
Externally publishedYes

Fingerprint

Mitochondrial DNA
Thyroid Gland
Mutation
Neoplasms
Population Control
Fetus
Electron Transport Complex I
Oxidative Phosphorylation
Thyroid Neoplasms
Genes
Papillary Thyroid cancer
Colorectal Neoplasms
Mitochondria
Carcinogenesis
Pathology
Kidney
Gene Expression
Liver

Keywords

  • Mitochondria
  • Mutations
  • Sequence variants
  • Thyroid tumours

ASJC Scopus subject areas

  • Molecular Biology
  • Cancer Research
  • Genetics

Cite this

Yeh, J. J., Lunetta, K. L., Van Orsouw, N. J., Moore, F. D., Mutter, G. L., Vijg, J., ... Eng, C. (2000). Somatic mitochondrial DNA (mtDNA) mutations in papillary thyroid carcinomas and differential mtDNA sequence variants in cases with thyroid tumours. Oncogene, 19(16), 2060-2066.

Somatic mitochondrial DNA (mtDNA) mutations in papillary thyroid carcinomas and differential mtDNA sequence variants in cases with thyroid tumours. / Yeh, Jen Jen; Lunetta, Kathryn L.; Van Orsouw, Nathalie J.; Moore, Francis D.; Mutter, George L.; Vijg, Jan; Dahia, Patricia Lm; Eng, Charis.

In: Oncogene, Vol. 19, No. 16, 13.04.2000, p. 2060-2066.

Research output: Contribution to journalArticle

Yeh, JJ, Lunetta, KL, Van Orsouw, NJ, Moore, FD, Mutter, GL, Vijg, J, Dahia, PL & Eng, C 2000, 'Somatic mitochondrial DNA (mtDNA) mutations in papillary thyroid carcinomas and differential mtDNA sequence variants in cases with thyroid tumours', Oncogene, vol. 19, no. 16, pp. 2060-2066.
Yeh, Jen Jen ; Lunetta, Kathryn L. ; Van Orsouw, Nathalie J. ; Moore, Francis D. ; Mutter, George L. ; Vijg, Jan ; Dahia, Patricia Lm ; Eng, Charis. / Somatic mitochondrial DNA (mtDNA) mutations in papillary thyroid carcinomas and differential mtDNA sequence variants in cases with thyroid tumours. In: Oncogene. 2000 ; Vol. 19, No. 16. pp. 2060-2066.
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