IMR Press / FBE / Volume 5 / Issue 3 / DOI: 10.2741/E661

Frontiers in Bioscience-Elite (FBE) is published by IMR Press from Volume 13 Issue 2 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on as a courtesy and upon agreement with Frontiers in Bioscience.


Frequencies of mtDNA mutations in primary tissue of colorectal adenopolyps

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1 Department of Medicine, Morehouse School of Medicine, Atlanta, GA, 30310, USA
2 Department of Pathology and Comprehensive Cancer Center, University of Alabama, Birmingham, AL, 35294, USA
3 Department of Physiology, Morehouse School of Medicine, Atlanta, GA, 30310, USA
4 Department of Medicine, Emory University School of Medicine, Atlanta, GA 30322, USA

*Author to whom correspondence should be addressed.


Front. Biosci. (Elite Ed) 2013, 5(3), 809–813;
Published: 1 June 2013

To investigate the potential role of mtDNA alterations during the onset of colorectal cancer, the occurrence of mtDNA variants in colorectal adenomatous (Tubular, Tubulovillous, and Villous) polyps, were studied. High resolution endonucleases and PCR-based sequence were applied to examine mtDNA variants in the ND and ATPase genes of 64 primary tissues of colorectal adenopolyps and their matched normal controls. Forty-two variants were observed and 57% (24/42) were not previously reported in the MITODAT reference. Fifty-eight percent of these variants were germline and homoplasmic transitions. The distribution of observed mtDNA variants includes: 31% (13/42) tubular, 52% (22/42) tubulovillous, 45% (19/42) villous, and 45% (19/42) cancer (including FAP and JVP). Notably, an unreported germline variant in the ATPase 8 gene at nucleotide position (np) G8573A was observed in tubulovillous adenomas tissues. The results suggest that some specific mtDNA variants may serve as a potential biomarker for colorectal adenomatous polyps.


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