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Projects. Life and Matter Sciences

Molecular characterisation of the role of mitochondrial dysfunction in tumoral development

Lead Researcher:
Ignacio Alejandro Varela Egocheaga

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


Ignacio Alejandro Varela EgocheagaCancer 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.

Researcher's web address:

Ignacio Alejandro Varela Egocheaga

Degree in Biochemistry (2003) and Doctorate from the University of Oviedo (2008). He worked as a predoctoral researcher in the University of Oviedo and in the National Cancer Institute (Bethesda, USA) and as a postdoctoral researcher in the Wellcome Trust Sanger Institute (Hinxton, UK). He is currently a Ramón y Cajal program researcher in the Instituto de Biomedicina y Biotecnología de Cantabria, a mixed centre of the University of Cantabria and the CSIC. He is the author of 42 scientific papers, some published in the most prestigious journals such as Nature, Science and Cell, with an h index of 22. He is the main researcher in three projects, including one by the prestigious European program ERC-Starting Grant. He has been guest speaker in several national and international conferences, and has taken part in several events for science education. Lastly, he regularly teaches in the Medical degree course of the University of Cantabria, for the interuniversity Master's degree course in Molecular Biology and Biomedicine, given conjointly by the University of Cantabria and the University of the Basque Country. He is directing two doctoral theses in the program of the Doctorate in Molecular Biology and Biomedicine in the University of Cantabria.

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