Discovery of new genes involved in mitochondrial-related diseases

Mitochondria play a central role in the cellular metabolism and the impairment of many mitochondrial proteins leads to disease. The list of such diseases is continuously growing and includes Parkinson´s, Alzheimer´s and Huntington´s diseases. Despite recent advances, the molecular basis of many mitochondrial diseases is yet to be understood and there is growing need to identify disease-causing genes and to unravel their functions.

Recently, proteomics analyses have identified a large set of proteins that function inside the mitochondrion, the so-called mitochondrial proteome. So far, more than a thousand proteins have been isolated from human mitochondria. Most of these proteins are not functionally characterized and it is expected that many of them may be involved in mitochondrial diseases. Moreover, other mitochondrial proteomic sets are being characterized in different species facilitating an evolutionary analysis of the mitochondrial system.

The aim of this research line is to integrate different types of data and automatically combine them in order to facilitate the identification and functional characterization of mitochondrial disease-related genes.