A DROSOPHILA MODEL FOR NIJMEGEN BREAKAGE SYNDROME AND RELATED GENETIC DISORDERS

Nijmegen Breakage Syndrome (NBS), ataxia telangiectasia (AT) and ataxia telangiectasia-like disease (ATLD) are related genetic diseases that cause devastating neurological disorders and predispose to cancer development. Up to date, there are no therapies for these diseases and for alleviating their symptoms. It is thus necessary a better understanding of the molecular mechanisms underlying these genetic disorders, hoping that new data will open the way to therapeutical interventions. Drosophila melanogaster, the common fruit fly, harbors genes homologous (very similar) to those that cause NBS, AT and ATDL. We are therefore proposing the use of this simple model organism to elucidate the relationships between the genes responsible for these diseases.