Dr Ramon Martí

I initiated my work in the field of mitochondrial disorders caused by defects in the metabolism of nucleotides as a postdoctoral research scientist in Prof. Hirano’s laboratory, at Columbia University. In this period I worked in the first characterization of the biochemical imbalances of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). I published the biochemical diagnostic algorithm for MNGIE and participated in other important molecular findings related to this disorder, such as the somatic mutations in mitochondrial DNA (mtDNA) and the generation of an animal model for the study of this disease.

After my incorporation at the University Hospital Vall d’Hebron, in Barcelona as principal investigator in 2003, my research focus expanded to other mitochondrial disorders caused by defects in nucleotide metabolism, such as MNGIE, TK2 and dGK deficiency or uridine metabolism in HIV infection.

In the last 5 years, my research work has dedicated significant efforts to elucidate basic biochemical mechanisms underlying the disorders caused by mitochondrial DNA replication defects, which could help finding novel therapies. We have obtained relevant results indicating that gene therapy can be a plausible therapy for MNGIE, and so we have obtained orphan drug designation and protocol assistance for an adenoassociated vector to treat this disease. We also demonstrated that limited availability of deoxyribonucleoside triphosphates ( dNTP) is a common mechanism accounting for mtDNA depletion in MNGIE and other forms of mtDNA depletion syndrome. Based on these and other results, we proposed the administration of nucleosides as treatment of this group of mitochondrial disorders. At this point, our most immediate objectives are to enable clinical trials to demonstrate the efficacy of these approaches to treat mitochondrial disorders caused by mitochondrial DNA replication defects.