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Molecular characterisation of the role of mitochondrial dysfunction in tumoral development

17th national competition for scientific and technical research

Metabolism and cancer

Senior Researcher : Ignacio Alejandro Varela Egocheaga

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Research Centre or Institution : Instituto de Biomedicina y Biotecnología de Cantabria. CSIC-Universidad de Cantabria-SODERCAN.


Cancer is mainly caused by the somatic accumulation of mutations in the DNA. The identification of these alterations has been highly useful in the past to improve the diagnosis and treatment of patients with some types of tumour. Nevertheless, in spite of the great advances in recent decades in the molecular study of cancer, this disease still causes about 1.7 million deaths per year in Europe. The accumulation of mitochondrial DNA mutations in practically all types of tumour has been described for years, although its importance in tumoral development is still unknown. Some investigators postulate that this accumulation of mutations may alter the mitochondrial function of tumoral cells, giving them a selective advantage. A pilot study undertaken in our laboratory in 97 samples of several tumoral subtypes allowed us to describe evidence for this selective pressure, thereby enhancing our knowledge of the molecular mechanisms involved in the accumulation of mutations in the mtDNA. By using new mass sequencing technologies in this project, we plan to undertake unprecedented characterisation, at the level of the genome and transcriptome, of mitochondrial function in a large collection of human tumour samples. The results of this will be extremely useful in improving understanding of the role of mitochondrial dysfunction in tumour development. This may lead to a significant improvement in the diagnosis and treatment of cancer patients.

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