PURPOSE: Mitochondrial DNA mutations are found in many kinds of human cancer and the 1.1 kb displacement loop region has been identified as a "hot spot" for mutation in mitochondrial DNA of tumors. This study evaluated the mutation frequencies in hypervariable regions of mitochondrial displacement loop in patients with colorectal cancer. METHODS: We examined the frequency of mutations in the mitochondrial DNA displacement loop region of 40 colorectal cancer samples in comparison to 150 samples from people without any type of familial cancer history, by automated DNA sequencing. Alignment was made with the revised Cambridge Reference Sequence and any differences recorded as single base substitution, insertions, and deletions. RESULTS: Our results showed that the rate of displacement loop variations was higher in colorectal cancer patients than controls. Nineteen single nucleotide polymorphisms were found; among them eighteen occurred in the displacement loop region. CONCLUSIONS: Mutations in mtDNA D-loop region probably do not cause colorectal cancer but are more likely to be epiphenomena; patients with the high mtDNA variants are at a higher risk of colorectal cancer.
PURPOSE: Mitochondrial DNA mutations are found in many kinds of humancancer and the 1.1 kb displacement loop region has been identified as a "hot spot" for mutation in mitochondrial DNA of tumors. This study evaluated the mutation frequencies in hypervariable regions of mitochondrial displacement loop in patients with colorectal cancer. METHODS: We examined the frequency of mutations in the mitochondrial DNA displacement loop region of 40 colorectal cancer samples in comparison to 150 samples from people without any type of familial cancer history, by automated DNA sequencing. Alignment was made with the revised Cambridge Reference Sequence and any differences recorded as single base substitution, insertions, and deletions. RESULTS: Our results showed that the rate of displacement loop variations was higher in colorectal cancerpatients than controls. Nineteen single nucleotide polymorphisms were found; among them eighteen occurred in the displacement loop region. CONCLUSIONS: Mutations in mtDNA D-loop region probably do not cause colorectal cancer but are more likely to be epiphenomena; patients with the high mtDNA variants are at a higher risk of colorectal cancer.
Authors: María Jesús Álvarez-Cubero; María Saiz Guinaldo; Luís Javier Martínez-González; Juan Carlos Álvarez Merino; José Manuel Cózar Olmo; José Antonio Lorente Acosta Journal: PLoS One Date: 2012-07-17 Impact factor: 3.240
Authors: S Venderbosch; S van Vliet; M H C Craenmehr; F Simmer; A F J de Haan; C J A Punt; M Koopman; I D Nagtegaal Journal: Virchows Arch Date: 2015-02-20 Impact factor: 4.064
Authors: Whitney Cowell; Kelly Brunst; Elena Colicino; Li Zhang; Xiang Zhang; Tessa R Bloomquist; Andrea A Baccarelli; Rosalind J Wright Journal: Mitochondrion Date: 2021-06-06 Impact factor: 4.534