BBB seminar: Angel Barco
The genetics and epigenetics of intellectual disability
Laboratory for Transcriptional and Epigenetic Mechanisms of Neuronal Plasticity, The Instituto de Neurociencias de Alicante, Spain
Intellectual development disorders (IDDs) represent one of the biggest medical challenges in our society. Their cause includes the mutation of genes encoding epigenetic regulators of gene expression. IDD-linked epigenetic factors often interact with one another in complexes that regulate chromatin structure at genes important for neurodevelopment and/or neuroplasticity. After introducing the general role of epigenetic mechanisms in neurodevelopment and neuroplasticity, I will focus on our recent and unpublished work on two of these IDDs: Rubinstein-Taybi syndrome, a rare autosomal dominant disorder caused by mutation in the genes encoding the lysine acetyltransferases CBP and p300 (also known as KAT3A and KAT3B, respectively), and X-Linked Intellectual Disability, Claes-Jensen type which is caused by mutations in the lysine demethylase 5C gene (KDM5C). Our main objectives in this line of research are to determine the role of these chromatin-modifying enzymes in neuronal plasticity, to dissect the developmental and adult components of the syndromes, and to describe the epigenetic and transcriptional alterations that underlie IDDs through state-of-the-art genomic screens in order to identify novel therapeutic targets. Our results not only contribute to the understanding and therapy of these rare IDDs, but also provide answers to fundamental questions in neurobiology.
Chairperson: Clive R. Bramham, Department of Biomedicine