Reference:
GGP02372
Abstract:
Autism (A) and A related disorders (ALD)include an heterogeneous group of conditions of almost unknown etiology. In fact, only in 10-25% of cases it is possible to recognize a specific cause, be it genetic or enviromental. Many different studies have pointed to a genetic component in A, indicating that several genes interact to make individuals susceptible to this condition. However, no such gene has been so far identified, except for some possible candidates whose etiologic role has to be clarified. A complex form of A, associated to a specific neurobehavioral phenotype, is commonly observed in patients with Rett syndrome (RTT). RTT is the only autistic disorder caused by a known gene, MeCP2. This gene is likely to interact with other target genes, in particular with genes on chromosome 15. We have undertaken a collaborative study aimed at the identification of the molecular and biological bases of A and RTT. In particular, our study is concentrated on chromosome 15 and on the mechanisms of action of MeCP2. To this purpose, it will be necessary to study a large number of patients with A and RTT. Therefore, collaboration of patients families is crucial to this project. Results of this study may provide clues to understand the biomolecular bases of complex neurobehavioral disorders such as A ans RTT. In additon, we hope that our results may have therapeutic perspectives.
PROJECT DETAILS
beginning: 2002.
end: 2005.
Country of research: Italy
Counry of funding source: Italy
Funding organization: Telethon
Financing: PRIVATE FUNDERS – 181 435 €