FUNCTIONAL, BEHAVIORAL AND GENETIC ANALYSIS TO SEARCH FOR RAB GTPASES INVOLVED IN SYNAPTIC VESICLES BIOGENESIS AND HUMAN MENTAL RETARDATION

During the last 10 years an enormous number of genes responsible for human genetic disorders have been identified. We are interested to study a group of disorders characterized by cognitive deficits. As many psychiatric disorders, cognitive impairment depends on a combination of genetic and environmental causes that may be difficult to distinguish. The discovery of genes for such pathologies and a detailed genetic analysis may provide clues to understanding their etiology. The project is aimed to gain insights into some of the molecular mechanisms responsible for human Mental Retardation (MR). This disease is very common among children and young adolescents. MR is highly heterogeneous pediatric disorders with impaired social and/or academic functioning and a very severe social impact. MR frequency in the human population is relatively high, ranging from 25 to 50%. Our laboratory identified one of the genes involved in X-linked non specific mental retardation, GDI1. We believe on the importance to create animal models for human disorders, to understand the molecular mechanisms responsible for cognitive defects sparing local Central Nervous System functions. Moreover, taking advantage from the analysis of animal models for such diseases may be helpful in develop new and appropriate therapies and treatments.