{"title":"Gallbladder carcinoma: high rate of mitochondrial D-loop mutations.","authors":"Sanjeev K Maurya, Mallika Tewari, Hari S Shukla","doi":"10.1097/PDM.0b013e31827a0d5a","DOIUrl":null,"url":null,"abstract":"<p><p>The molecular mechanisms leading to gallbladder carcinoma (GBC) are poorly understood. Different molecular disorders, including nuclear and mitochondrial genomic alteration, are associated with different cancers. The frequency of mitochondrial genome mutation has remained completely unexplored. In GBC, this is the first report of a mutation analysis in the mitochondrial genome, especially in the D-loop region. For a comprehensive D-loop view in GBC in humans, we sequenced the mitochondrial genome of 35 GBC patients and matched germ-line DNA. A wide range of point mutations and polymorphisms was observed. These variations in the D-loop sequence of human GBC represent good evidence of the mitochondrial role in GB carcinogenesis and may be used as a marker for GBC.</p>","PeriodicalId":11235,"journal":{"name":"Diagnostic Molecular Pathology","volume":"22 2","pages":"119-22"},"PeriodicalIF":0.0000,"publicationDate":"2013-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/PDM.0b013e31827a0d5a","citationCount":"1","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Diagnostic Molecular Pathology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1097/PDM.0b013e31827a0d5a","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 1
Abstract
The molecular mechanisms leading to gallbladder carcinoma (GBC) are poorly understood. Different molecular disorders, including nuclear and mitochondrial genomic alteration, are associated with different cancers. The frequency of mitochondrial genome mutation has remained completely unexplored. In GBC, this is the first report of a mutation analysis in the mitochondrial genome, especially in the D-loop region. For a comprehensive D-loop view in GBC in humans, we sequenced the mitochondrial genome of 35 GBC patients and matched germ-line DNA. A wide range of point mutations and polymorphisms was observed. These variations in the D-loop sequence of human GBC represent good evidence of the mitochondrial role in GB carcinogenesis and may be used as a marker for GBC.
期刊介绍：
Diagnostic Molecular Pathology focuses on providing clinical and academic pathologists with coverage of the latest molecular technologies, timely reviews of established techniques, and papers on the applications of these methods to all aspects of surgical pathology and laboratory medicine. It publishes original, peer-reviewed contributions on molecular probes for diagnosis, such as tumor suppressor genes, oncogenes, the polymerase chain reaction (PCR), and in situ hybridization. Articles demonstrate how these highly sensitive techniques can be applied for more accurate diagnosis.
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