Source:http://linkedlifedata.com/resource/pubmed/id/11477557
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4
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pubmed:dateCreated |
2001-7-30
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pubmed:abstractText |
In an earlier study, we showed that heteroplasmy in the mitochondrial genome of gliomas sometimes occurs in a D-loop polycytosine tract. We extended this study by pairwise comparisons between glioma samples and adjacent brain tissue of 55 patients (50 glioblastomas, 1 astrocytoma WHO grade III, 4 astrocytomas WHO grade II). We used a combination of laser microdissection and PCR to detect and quantify variations in the polycytosine tract. New length variants undetectable in the adjacent brain tissue were observed in 5 glioblastomas (9%). In 2 of these cases, samples from a lower tumor stage (WHO grade II) could be analyzed and revealed the early occurrence of these mutations in both cases. Since the mitochondrial D-loop contains additional repeats and highly polymorphic non-coding sequences, we compared 17 glioblastomas with the corresponding blood samples of the same patients by direct sequencing of the complete D-loop. In 6 of these tumors (35%), instability was detected in 1 or 2 of 3 repeat regions; in 1 of these repeats, the instability was linked to a germline T-to-C transition. Furthermore, of 2 tumors (12%) 1 carried 1 and the other 9 additional transitions. In the latter patient, 6.7 kb of the protein coding mtDNA sequence were analyzed. Six silent transitions and 2 missense mutations (transitions) were found. All base substitutions appeared to be homoplasmic upon sequencing, and 89% occurred at known polymorphic sites in humans. Our data suggest that the same mechanisms that generate inherited mtDNA polymorphisms are strongly enhanced in gliomas and produce somatic mutations.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
0020-7136
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pubmed:author | |
pubmed:copyrightInfo |
Copyright 2001 Wiley-Liss, Inc.
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pubmed:issnType |
Print
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pubmed:day |
15
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pubmed:volume |
93
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
534-8
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pubmed:dateRevised |
2007-7-24
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pubmed:meshHeading |
pubmed-meshheading:11477557-Adult,
pubmed-meshheading:11477557-Aged,
pubmed-meshheading:11477557-Base Sequence,
pubmed-meshheading:11477557-Brain Neoplasms,
pubmed-meshheading:11477557-DNA, Mitochondrial,
pubmed-meshheading:11477557-Female,
pubmed-meshheading:11477557-Glioblastoma,
pubmed-meshheading:11477557-Humans,
pubmed-meshheading:11477557-Male,
pubmed-meshheading:11477557-Middle Aged,
pubmed-meshheading:11477557-Mutation,
pubmed-meshheading:11477557-Mutation, Missense,
pubmed-meshheading:11477557-Nucleic Acid Conformation,
pubmed-meshheading:11477557-Paraffin Embedding,
pubmed-meshheading:11477557-Poly C
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pubmed:year |
2001
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pubmed:articleTitle |
High frequency of mitochondrial DNA mutations in glioblastoma multiforme identified by direct sequence comparison to blood samples.
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pubmed:affiliation |
Department of Neuropathology, University of Magdeburg, Magdeburg, Germany. elmar.kirches@medizin.uni-magdeburg.de
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
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