Welcome to the ZARAMIT project homepage. Here you will find information on the project, related resources and available results. This project is developed at the University of Zaragoza, inside the Department of Informática e Ingeniería de Sistemas (DIIS), together with the Aragón Institute of Engineering Research (I3A) and the Group of Discrete Event Systems Engineering (GISED).

Project goals

The ultimate goal of ZARAMIT is to develop an information system capable of building exhaustive human mitochondrial phylogenies. These will in turn be used to spot potentially deleterious mutations, as well as conduct extensive evolutionary studies.

Motivation

Mitochondria are organelles found in most eukaryotic cells. They are responsible for the generation of most of the cell’s chemical energy, and as such their malfunctioning has serious, even life-threatening consequences.

These organelles are interesting for a number of reasons. Firstly, they possess an independently inherited genome, which is generally matrilineal in nature, and generally uniparental, and thus free from recombination, resulting in a pure evolutionary marker. Secondly, the DNA molecule exists in a very reactive environment, where mutation rates are one order of magnitude above those of nuclear DNA; therefore, their resolution allows to tell apart closely related individuals.

Thus, on the one hand, they are ideal candidates to build detailed phylogenies of related species and even interspecies phylogenies. On the other hand, deleterious mitochondrial mutations are one of the main causes of rare genetic diseases. ZARAMIT aims to merge both approaches.

The key to this union is the concept of purifying selection. Essentially, we are looking for very harmful mutations, which cause chronic illness and effectively invoke natural selection, preventing long-term genetic survival. Hence, given a detailed mitochondrial phylogeny, these genotypes will only be found in terminal branches, being quickly discarded due to their phenotypic effects.