Journey to the center of mitochondria: Protein import, its alterations and related diseases

Abstract

Mitochondria are exciting organelles not only because they are in charge of the energy production within the cell, but also because of their relevance in processes and pathologies of medical interest. The vast majority of the proteins that constitute the mitochondrial proteome are encoded in the nucleus and translated by cytosolic ribosomes, hence these have to be correctly identified in order to be distributed and inserted in each of the mitochondrial subcompartments. In this review, we describe the mitochondrial import machineries, as well as the different cellular responses to alterations in protein transport processes or when a mitochondrial dysfunction arises. Lastly, we give an overview of the identified pathologies triggered by mitochondrial dysfunction derived from mutations in the components of the import and sorting machineries of the organelle.