Drug Design in a rare disease like the Shwachman-Diamond Syndrome: conformational study of the protein EFL1 and the screening of small organic molecules capable of modulating its function
CNCCS Consortium Project “Collezione di Composti Chimici ed attività di screening”
SHORT DESCRIPTION AND USEFUL INFO:
Shwachman-Diamond Syndrome is a very rare genetic disease, for which, currently, there is no cure: in Italy there are 121 patients since 1999. SDS is a complex disease, mainly (about 90% of patients) resulting from the bi-allelic mutation of the SBDS gene (discovered in 2002). The protein encoded by this gene, SBDS, together with the EFL1 protein participate in the cytoplasmic maturation of a ribosomal subunit. Its function is to evict the eIF6 protein (anti-associative factor) from the 60s surface; the latter allows the translation of the competent ribosome. SDS belongs to a class of diseases known as ribosomopathies, related with the alteration of the ribosome structure and / or its biogenesis. Understanding the molecular function of SBDS and EFL1 is not only important for the obvious reason of the medical disease but also because of their relationship to a fundamental biological process such as ribosome assembly and its impact on translation but represents a pathway to understand the role of specialized ribosome to provide regulation and adaptive fitness in an organism.
Dott. MICHELE SAVIANO, Dott. DRITAN SILIQI
IC-BARI, via G. Amendola 122/O
+39 080 5929164