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rdf:type |
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lifeskim:mentions |
umls-concept:C0007587,
umls-concept:C0017337,
umls-concept:C0025519,
umls-concept:C0027651,
umls-concept:C0040132,
umls-concept:C0206530,
umls-concept:C0208973,
umls-concept:C0521451,
umls-concept:C0542341,
umls-concept:C0949667,
umls-concept:C1314939,
umls-concept:C1517892,
umls-concept:C1554184,
umls-concept:C1704666,
umls-concept:C1826393
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pubmed:issue |
10
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pubmed:dateCreated |
2005-5-18
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pubmed:abstractText |
Oxyphil or Hurthle cell tumours of the thyroid are characterised by their consistent excessive number of mitochondria. A recently discovered gene, GRIM-19 has been found to fulfil two roles within the cell: as a member of the interferon-beta and retinoic acid-induced pathway of cell death, and as part of the mitochondrial Complex I assembly. In addition, a gene predisposing to thyroid tumours with cell oxyphilia (TCO) has been mapped to chromosome 19p13.2 in one family. A cluster of genes involved in mitochondrial metabolism occurs in this region; one of these is GRIM-19. We have searched for GRIM-19 mutations in a series of 52 thyroid tumours. Somatic missense mutations in GRIM-19 were detected in three of 20 sporadic Hurthle cell carcinomas. A germline mutation was detected in a Hurthle cell papillary carcinoma arising in a thyroid with multiple Hurthle cell nodules. No mutations were detected in any of the 20 non-Hurthle cell carcinomas tested, nor in any of 96 blood donor samples. In one of the sporadic Hurthle cell papillary carcinomas positive for GRIM-19 mutation, we have also detected a ret/PTC-1 rearrangement. No GRIM-19 mutations were detected in any of the six cases of known familial Hurthle cell tumour tested, so that our results do not support the identification of GRIM-19 as the TCO gene. The GRIM-19 mutations we have detected are the first nuclear gene mutations specific to Hurthle cell tumours to be reported to date; we propose that such mutations can be involved in the genesis of sporadic or familial Hurthle cell tumours through the dual function of GRIM-19 in mitochondrial metabolism and cell death.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/15841082-10211119,
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http://linkedlifedata.com/resource/pubmed/commentcorrection/15841082-9528783,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15841082-9713362,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15841082-9774665,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15841082-9814501,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15841082-9822610,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15841082-9837827
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0007-0920
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pubmed:author |
pubmed-author:AmariJJ,
pubmed-author:BarbosaA PAP,
pubmed-author:BotelhoTT,
pubmed-author:CapelaJJ,
pubmed-author:HarachH RHR,
pubmed-author:LimaJJ,
pubmed-author:MáximoVV,
pubmed-author:PretiGG,
pubmed-author:SoaresPP,
pubmed-author:Sobrinho-SimõesMM,
pubmed-author:TaveiraAA,
pubmed-author:WilliamsDD
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pubmed:issnType |
Print
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pubmed:day |
23
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pubmed:volume |
92
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1892-8
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:15841082-Humans,
pubmed-meshheading:15841082-Thyroid Neoplasms,
pubmed-meshheading:15841082-Adult,
pubmed-meshheading:15841082-Mitochondria,
pubmed-meshheading:15841082-Middle Aged,
pubmed-meshheading:15841082-Protein Subunits,
pubmed-meshheading:15841082-Base Sequence,
pubmed-meshheading:15841082-Case-Control Studies,
pubmed-meshheading:15841082-Molecular Sequence Data,
pubmed-meshheading:15841082-NADH, NADPH Oxidoreductases
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