Research Groups

Genetics and Behavior Diseases

Scientific Production and Human Team

Principal Investigator

Dr. Manuel Ruiz Rubio

PAIDI BIO-272 scientific group

Genetics and Behavior Diseases

Scientific Activity

Significant progress is being made nowadays in our understanding of the genetic basis of autism. Many of the genes involved encode proteins which are involved in synaptic function. Caenorhabditis elegans is an organism which constitutes an ideal model for studying synapse interactions because it only has about 300 neurons, and these are well characterized. In C. elegans there are genes which are orthologous to the human genes involved in autism, which encode proteins involved in the synapse. We have characterized mutants in some of these genes by observing changes in behaviour, as well as in response to chemical compounds that interfere with neurotransmitters, such as gamma-aminobutyric acid (GABA) or acetylcholine. The use of C. elegans as a model organism allows us to create an experimental setting that facilitates the genetic study of synaptic components. With the results obtained, our long term aim is to extrapolate them to humans and be able to explain the neurobiological mechanisms involved in the etiology of autism and other developmental diseases.

On the other hand, the members of the Unit for Child and Adolescent Mental Health (USMI-J) are conducting a detailed phenotypic analysis of a sample of patients diagnosed with autism in order to establish distinctive features and to determine whether autism can be associated in the future with specific genetic or environmental alterations.

Keywords

Autism, pervasive developmental disorders, neuronal synapses, postsynaptic density, C. elegans as a model organism in synaptic function.