Saturday, 7th December 2019

Inherited Metabolic Disorders: Identification of new causative genes of disease and investigation of new therapeutic strategies





Mª Pilar Rodríguez-Pombo







Research summary:

Knowledge of genes and mutations causing pathology is becoming a key factor to understand the relationship between gene function and disease, and from there, to try to mitigate the biochemical dysfunction. This principle, which applies to any disease with a genetic basis, is especially relevant to the 30 million of Europeans suffering from a rare disease.

The widespread use of resources aimed to decipher the genetics of complex diseases has prompted an unprecedented development of technologies such as next generation sequencing (NGS), or genotyping arrays, which have allowed the identification of new genes and mutations in over 40 monogenic diseases. Nevertheless, still there are a very numerous clinical entities affecting to a small number of patients for which the deficient gene is unknown.

Our working group is currently implementing some of these methodologies for searching new genes involved in specific groups of inherited metabolic diseases classified as rare and predominantly with a neurological impact. Among those, are especially relevant various neonatal epileptic encephalopathies (glycinergic encephalopathy, Maple Syrup Disease, and several multiple mitochondrial dysfunction syndromes). We have recently reported the identification of a novel regulatory defect in the branched-chain-α-keto acid dehydrogenase responsible for the pathology of Maple Syrup Urine Disease. The second major goal of our work is focused on finding new targets and therapeutic strategies tailored to the phenotype / genotype for each specific patient. We propose two different lines of experimentation. The first one based on the analysis of the biochemical phenotype, essential to understanding the pathophysiology of the disease. The second based on the understanding of the molecular mechanism of the allelic variants identified in each patient. In this case, we will explore the applicability of therapies based on the modulation of mechanisms involved in the processing, stability or translation of mRNA. The ultimate goal will be to offer a personalized treatment option, adapted to the phenotype/genotype of each patient.


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