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Molecular Cancer

, 3:30

First Online: 13 October 2004Received: 16 August 2004Accepted: 13 October 2004


To examine the relationship between mitochondrial DNA mtDNA alterations and colorectal tumorigenesis, we used high-resolution restriction endonucleases and sequencing to assess the mitochondrial genome from three histologic subtypes of colorectal adenomas tubular = 8; tubulovillous = 9; and villous = 8, colorectal cancer CRC tissues = 27, and their matched surrounding normal tissue MSNT = 52. The mitochondrial genomes were amplified using 9 pairs of overlapping primers and systematically analyzed by means of high-resolution analysis. DNA fragments showing a shift in banding patterns between the three adenomas, CRC, in comparison to the MSNT were sequenced to identify the mtDNA alterations. A total of thirty-eight germ-line mtDNA variants were observed in this study. Twenty-two of the thirty-eight were identified as mutations and 59% 13 of 22 were silent mutations and one was a 1-bp insertion. Sixteen of thirty-eight were distinct SNPs in flanking regions of the restriction sites and, 6 of the 16 37% SNPs were not previously reported. Most of these mutations-SNPs were homoplasmic and distributed in various regions of mitochondrial genes including the 16S and 12S rRNA. Based on our results, mtDNA germline variants increased in prevalence with adenoma CRC progression. To the best of our knowledge, this is the first report to show an increased prevalence of mitochondrial gene variants in CRC tumorigenesis.

AbbreviationsMtDNAmitochondrial DNA

ATPadenosine triphosphate

CRCcolorectal cancer

MSNTmatched surrounding Normal tissue

SNPs single nucleotide polymorphisms

PCR polymerase chain reaction.

Electronic supplementary materialThe online version of this article doi:10.1186-1476-4598-3-30 contains supplementary material, which is available to authorized users.

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Autor: Felix O Aikhionbare - Masood Khan - Delicia Carey - Joel Okoli - Rodney Go


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