MODEL SYSTEMS TO IDENTIFY GENES AND FACTORS IN THE SIGNAL TRANSDUCTION PATHWAY DEFECTIVE IN ATAXIA TELANGIECTASIA PATIENTS

Ataxia-telangiectasia (A-T) is a rare genetic disease, a childhood neurological disorder that causes degeneration in the part of the brain, premature ageing and cancer predisposition. There is no cure for A-T and, currently, no way to slow the disease progression. The prognosis is poor. A-T patients die in their teens or early 20s. The gene responsible for A-T is the ATM (ataxia-telangiectasia mutated) gene. ATM protects the stability of the chromosomes. When ATM is defective the chromosomes are targeted by dangerous activities that cause lesions and the formation of aberrant structures. Our research project aims at clarifying the role of ATM in protecting the chromosomes and at unmasking those cellular factors that actively contribute to generate chromosomal abnormalities in A-T patients and to identify potential pharmacological targets.