Reference:
GGP05119
Abstract:
Rett syndrome (RTT) is a genetic disease that occurs almost exclusively in females, with an estimated prevalence of 1 in 10.000-15.000 female births. After normal development up to the age of 6-36 months, follows a period of regression of motor and mental abilities. Affected patients develop loss of speech and purposeful hand use, autism and a profound mental handicap. In 1999, the gene coding for MeCP2 has been identified as the molecular cause of RTT. Since then defects in this gene have been identified in 60-80% of patients. The fact that approximately 20% of RTT patients carry a normal MECP2 gene linked to the evidence that patients carrying the same MeCP2 defect often do not present the same clinical picture seem to indicate that other genes might be directly responsible of the RTT onset or, at least, might influence its severity. Accordingly, very recently defects in another gene, called CDKL5, have been identified in some patients affected by a variant form of Rett. Hoping that our research will contribute to the identification of all the genes involved in this terrible disease as well as to a better comprehension of the molecular mechanisms underlying its onset, in the last few years we have concentrated our activities on the identification and characterization of other proteins that function together with MeCP2. In particular, with this proposal we will study how four proteins, including CDKL5, associate with MeCP2, their biological function and their possible involvement in Rett syndrome and other related disorders, characterized by mental retardation. We believe that the obtained results will contribute to the development of diagnostic tests, and, in a longer time frame, to the achievement of therapeutic strategies.
PROJECT DETAILS
beginning: 2005.
end: 2008.
Country of research: Italy
Counry of funding source: Italy
Funding organization: Telethon
Financing: PRIVATE FUNDERS – 205 775 €