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Mitochondrial genome instability in colorectal adenoma and adenocarcinoma

2015; SAGE Publishing; Volume: 36; Issue: 11 Linguagem: Inglês

10.1007/s13277-015-3640-7

1423-0380

Luíza Ferreira de Araújo, Aline Simoneti Fonseca, Bruna Rodrigues Muys, Jéssica Rodrigues Plaça, Rafaela B. L. Bueno, Julio C. C. Lorenzi, Anemari Ramos Dinarte dos Santos, Greice Andreotti de Molfetta, Dalila Lucíola Zanette, Jorge Estefano Santana de Souza, Valéria Valente, Wilson A. Silva,

Genetic factors in colorectal cancer

Mitochondrial dysfunction is regarded as a hallmark of cancer progression. In the current study, we evaluated mitochondrial genome instability and copy number in colorectal cancer using Next Generation Sequencing approach and qPCR, respectively. The results revealed higher levels of heteroplasmy and depletion of the relative mtDNA copy number in colorectal adenocarcinoma. Adenocarcinoma samples also presented an increased number of mutations in nuclear genes encoding proteins which functions are related with mitochondria fusion, fission and localization. Moreover, we found a set of mitochondrial and nuclear genes, which cooperate in the same mitochondrial function simultaneously mutated in adenocarcinoma. In summary, these results support an important role for mitochondrial function and genomic instability in colorectal tumorigenesis.