“Therapeutical approaches for MNGIE “
Coordinator: Ramón Martí Seves.
Study of the effects of restoration of thymidine phosphorylase activity on the biochemical phenotype and on the mitochondrial function in MNGIE, as a preliminary approach to a possible treatment through gene therapy.
“Study of the pathogenic mechanisms of mutations in mitochondrial DNA (mtDNA) structural genes "
Coordinator : Antonio Luís Andreu Périz and Elena García-Arumí.
Characterization of the phenotype effect of mutations in mtDNA structural genes in a model of transmitocondrials hybrids; creation of cellular new lines of transmitocondrials hybrids and deepening in the study of established lines (MELAS, MERRF, mutants in COX and complex I).
“Characterization of the relation genotype-phenotype in McArdle disease “
Coordinator : Antonio Luís Andreu Périz .
We are working in the elements that would define the relation genotype-phenotype in McArdle disease, produced by mutations in the gene of the muscular isoform of the glycogen phosphorylase. In addition the knock-in mouse for the common mutation in the caucasian population is being generated (R49X) studying its phenotype effects.
“Genetic and biochemical study of the mitochondrial DNA depletion syndromes: MNGIE and depletion due to TK2 and dGK defficiency. Involvement of the control of nucleotide pools 
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Coordinator: Ramón Martí Seves.
Experimental studies aimed to determine the influence of the nucleotide pool imbalances on mitochondrial DNA maintenance.
“Analysis of the genotype-phenotype relationship in genetically distinct forms of Familial Amyotrophic Lateral Sclerosis. “
Coordinator: José Gámez Carbonell.
The main objetive of this project is to study the genotype/phenotype correlation in the Familial Amyotrophic Lateral Sclerosis. We will genetically characterize independent families from which DNA is available from affected individuals. We will also conduct a complete clinical characterization of those genetically distinct forms to study the genotype-pheotype correlation.
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“Role of oxidative damage in Friedreich ataxia pathogenesis“
Coordinator : José Gámez Carbonell and Elena García-Arumí.
Friedreich Ataxia (FDRA) is produced by a molecular defect in frataxin gene, which results in an alteration in iron homeostasis. We are evaluating the antioxidant system and oxidative stress (systemic and muscular) in FDRA patients. Correlation of these parameters with the number of GAA repeats, disability degree and clinical evolution will be done.