Reference:
GGP09196
Abstract:
Rett syndrome is a leading cause of mental retardation, second only to Down syndrome, which affects almost exclusively girls. This disease becomes manifest after a period of apparently normal development and causes growth retardation, severe psychomotor impairment and autistic behaviour. The majority of cases of Rett syndrome are caused by mutations in the gene encoding MECP2, a protein which binds DNA and regulates the expression of other genes, including that of brain-derived neurotrophic factor (BDNF), a major neurotrophin involved in brain development. No effective cure is available for this disease. We have gathered a multidisciplinary group made of people expert in molecular and cell biology, physiology and imaging, and Rett syndrome clinic to study the progression of the disease in patients and mouse models using the most advanced techniques. This should shed light on new alterations underlying the disease and could give to the clinician and the researcher markers to be used to monitor disease progression objectively and to assess the efficacy of clinical trials. A second aim of this project is a detailed analysis of a deficit in the mechanisms controlling protein synthesis in neurons that we began to characterized in the animal model. We plan to use this knowledge to test experimental therapies in mice.
PROJECT DETAILS
beginning: 2009.
end: 2012.
Country of research: Italy
Counry of funding source: Italy
Funding organization: Telethon
Financing: PRIVATE FUNDERS – 482 200 €