Fernando Calahorro, Ph.D

Entradas

Mostrando entradas de 2015

Research

Modelling functional of neuroligin/neurexin trans-synaptic activation: Using the C. elegans synapse as a model

The synaptopathies are responsible for complex disorders like schizophrenia and autism and emerge in the brain when individual genes are disrupted. Within these genes are neuroligins (NLGNs) and neurexins (NRXNs).

Neuroligins are cell adhesion proteins that interact with neurexins at the synapse. This interaction may contribute to differentiation, plasticity and specificity of synapses. In humans, single mutations in neuroligin-encoding genes lead to autism spectrum disorder and/or mental retardation. And some copy number variations and point mutations in neurexin-encoding genes have been linked to neurodevelopmental disorders including autism.

The principal aim in my research is to leverage understanding using the simple brain of the nematode Caenorhabditis elegnas (approximately six thousand synapses). This model organism’s nervous system is built on the same principles as the human brain. However it is easier to do experiments and to evaluate behaviour.

In the nematode there are two orthologues genes of human neuroligin and neurexin genes, nlg-1 and nrx-1, respectively. And deficient mutants in nlg-1 and nrx-1 have defects in different behaviours.