Angelman Sindromearen ikerkuntza Drosophila euliak erabiliz

Abstract

Angelman Sindromea (AS) garapen intelektualaren atzerapena dakarren gaixotasun bat da. Bere jatorria 15. kromosoman dagoen UBE3A genean gertatzen diren mutazioak dira. UBE3A-k zelularen beste zenbait proteina erregulatzen ditu, ubikitina deitutako molekula bat erantziz. Oraindik ez da ezagutzen UBE3Ak eraldatzen dituen proteinak zeintzuk diren. Gure laborategian ubikitilazioa ikertzeko garatu dugun estrategia erabiliz, Drosophila melanogaster eulietan, Ube3a (UBE3A Drosophila homologoa) ubikitilatzen dituen proteina batzuk identifikatu ditugu. Gure emaitzek entzima horrek proteasomarekin zerikusirik daukaten proteinak ubikitilatuz zelularen homeostasia kontrolatzen duela adierazten dute.

Angelman Syndrome (AS) is a disorder that is characterized by an intellectual development delay. Its molecular causes are mutations that affect the UBE3A gene located on chromosome 15. UBE3A regulates the attachment of ubiquitin molecules to other proteins, changing in this way their function. The proteins regulated by UBE3A, however, are yet not known. Using a novel strategy to study ubiquitination, developed in our lab, and using the fly Drosophila melanogaster, we have identified a few proteins that are ubiquitianted by Ube3a (the Drosophila homolog of UBE3A). Our results show that this enzyme regulates cellular homeostasis by the ubiquitination of proteasomal related proteins.