IDIBAPS, Institut d'Investigacions Biomèdiques August Pi i Sunyer

Main lines of research

Within the general line of hereditary metabolic diseases, our concrete research lines are based on the following:

1. In vitro therapeutic approaches. . This study involves the testing of chemical and peptide libraries. Selection has been made of disease stop mutations and mis-sense mutations previously identified by our group. We make use of fibroblasts IPI cells and neuron cultures as cell models.
2. CoQ10 deficiency. We are carrying out the biochemical selection of patients with CoQ10 deficiency, based on the study of the mitochondrial respiratory chain and the analysis of the metabolic pathways, using stable isotopes in fibroblasts from the previously selected patients. Posteriorly, in patients that prove negative for mutations of the genes known to date, an exome analysis will be made to identify the gene causing the disease.
3. Cerebral creatine deficiency. Our group has been a pioneer in the identification of patients with cerebral creatine deficiency. At present we are centered on the evaluation of different creatine derivatives with the purpose of establishing a treatment for creatine transport deficiency. these creatine uptake studies are carried out in neurons derived from IPI cells and HUVEC and HBMEC cells silenced with interference RNA.
4. mtDNA depletion. A nucleotide metabolic defect may give rise to mitochondrial DNA depletion. Since we have identified patients with these characteristics, without mutations of the genes known to date, our objective is to explore new genes capable of explaining the disease.
5. Type C Niemann-Pick disease. The study of patients with this disorder has been carried out in a knock-in murine model, with a view to gaining further knowledge of the underlying physiopathology. On the other hand, this model will be used to test different drugs that act upon proteosomal degradation.