  | Study of pathogenic mechanisms of mutations in mitochondrial DNA ( mtDNA) structural genes
IP: Antonio Luis Andreu Périz, Elena García Arumí
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Characterization of phenotypic effects of mitochondrial DNA mutations using a model of transmitocondrial hybrids. Actually we are working with mutations in; ribosomal RNA (12S rRNA), in tRNA (tRNA lys, tRNA Leu (UUR)), and subunits; complex I (ND6), complex IV (COI) and complex V (ATP6).
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| Characterization of genotype-phenotype association in McArdle’s disease
IP: Antonio Luis Andreu Périz
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We are characterizing the elements that define genotype-phenotype association in McArdle’s disease, produced by mutations in the gene of the muscular isoform of glycogen phosphorylase. In addition, we are generating the knock-in mouse for the common mutation in Caucasian population (R50X) studying its phenotypic effects.
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| Genetic and biochemical study of mitochondrial DNA depletion syndromes: MNGIE, depletion due to deficiency of TK2 and dGK. Implications on the control of nucleotide pool.
IP: Ramón Martí Seves
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Experimental studies to determine the influence of imbalances in concentrations of nucleotides on the maintenance of mtDNA.
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| Study of possible therapeutic approaches for the Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) disease
IP: Ramón Martí Seves
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Study the effects of restoring tymidine phosphorylase activity on the biochemical phenotype and mitochondrial function in MNGIE, as a preliminary approach for a possible treatment by gene therapy.
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