Curriculum in PDF: English CV

Mitochondrial diseases are a heterogeneous group of disorders characterized by dysfunctional OXPHOS activity. A growing number of mutations in mitochondrial proteins codified by nuclear or mitochondrial DNA (mtDNA) has been associated with mitochondrial disorders. However, the number is still increasing. A crucial aspect to ensure a correct mitochondrial function is the maintenance of mtDNA, ensuring its segregation, replication, and functioning. One of the main research interests of our lab is to understand the molecular mechanisms regulating mtDNA dynamics, and how alteration in this process might affect the onset or progression of mitochondrial diseases. A parallel research line currently ongoing is focused on the study of the mitochondrial ATAD3 protein family. This family exists as a single gene up to primates, in which it suffered a double in tandem gene duplication giving rise to ATAD3B and the putative pseudogene ATAD3C. ATAD3B is expressed only during embryogenesis in pluripotent cells, and in some tumors, suggesting a correlation between the expression of the protein and the presence of a glycolytic metabolism which is characteristic of the indicated cell types. Therefore a complementary research interest of our lab is to understand whether and how ATAD3B regulates metabolism and its implications for stemness or tumor progression.

1. Role of ATAD3A in the regulation of mitochondrial ultrastructure, dynamics and mtDNA stability: implications for Mitochondrial Depletion Syndromes and Harel-Yoon disease 2. Exploring the ATAD3B role in lung cancer and chemoresistance. 3. Regulation of ATAD3B expression during embryogenesis: implications for cell pluripotency