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  Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism

Meierhofer, D., Mayr, J. A., Fink, K., Schmeller, N., Kofler, B., & Sperl, W. (2006). Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism. British Journal of Cancer, 94(2), 268-274. doi:10.1038/sj.bjc.660292.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0028-80B8-1 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0028-80B9-0
Genre: Journal Article

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© 2006 Cancer Research UK
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 Creators:
Meierhofer, D.1, 2, Author              
Mayr, J. A.2, Author
Fink, K., Author
Schmeller, N., Author
Kofler, B.2, Author
Sperl, W.2, Author
Affiliations:
1Mass Spectrometry (Head: David Meierhofer), Scientific Service (Head: Christoph Krukenkamp), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479669              
2Department of Paediatrics, Paracelsus Private Medical University Salzburg, Salzburg, Austria, ou_persistent22              

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Free keywords: oxidative phosphorylation; mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes; denaturing HPLC; mitochondrial DNA mutations; renal cell carcinoma
 Abstract: Previously, renal cell carcinoma tissues were reported to display a marked reduction of components of the respiratory chain. To elucidate a possible relationship between tumourigenesis and alterations of oxidative phosphorylation, we screened for mutations of the mitochondrial DNA (mtDNA) in renal carcinoma tissues and patient-matched normal kidney cortex. Seven of the 15 samples investigated revealed at least one somatic heteroplasmic mutation as determined by denaturating HPLC analysis (DHPLC). No homoplasmic somatic mutations were observed. Actually, half of the mutations presented a level of heteroplasmy below 25%, which could be easily overlooked by automated sequence analysis. The somatic mutations included four known D-loop mutations, four so far unreported mutations in ribosomal genes, one synonymous change in the ND4 gene and four nonsynonymous base changes in the ND2, COI, ND5 and ND4L genes. One renal cell carcinoma tissue showed a somatic A3243G mutation, which is a known frequent cause of MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis, stroke-like episode) and specific compensatory alterations of enzyme activities of the respiratory chain in the tumour tissue. No difference between histopathology and clinical progression compared to the other tumour tissues was observed. In conclusion, the low abundance as well as the frequently observed low level of heteroplasmy of somatic mtDNA mutations indicates that the decreased aerobic energy capacity in tumour tissue seems to be mediated by a general nuclear regulated mechanism.

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Language(s): eng - English
 Dates: 2006-01-30
 Publication Status: Published in print
 Pages: -
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 Table of Contents: -
 Rev. Type: -
 Identifiers: DOI: 10.1038/sj.bjc.660292
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Title: British Journal of Cancer
Source Genre: Journal
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Publ. Info: London : Harcourt Publishers
Pages: - Volume / Issue: 94 (2) Sequence Number: - Start / End Page: 268 - 274 Identifier: ISSN: 0007-0920
CoNE: https://pure.mpg.de/cone/journals/resource/954927651809