Members of the Institute of Chemical Research (IIQ) and the Department of Organic Chemistry of the University of Seville (US) have participated in the development of a new molecule that allows recovery of the activity of the defective protein that causes Gaucher disease, a rare hereditary disease associated with uncontrolled storage of a type of substrates (glycosphingolipids) in vital organs, due to a congenital deficiency of the protein that should eliminate them.
This group, jointly led by the researchers José Manuel García Fernández (CSIC), currently Director of the IIQ, and Carmen Ortiz Mellet (US), in collaboration with a wide range of Spanish research institutes and centers included in the Centro de Investigaciones Biomédicas en Red para Enfermedades Raras (CIBERER), have laid the foundations for this research, have laid the foundations for this research, whose next step -the clinical study in patients- will now be taken by the Hematology Department of the Miguel Servet Hospital, in Zaragoza, the headquarters city of the Spanish Federation for the Study and Therapeutics of Gaucher Disease.
The scientific study by IIQ and US researchers has consisted in the design and synthesis of chaperone molecules capable of selectively recognizing the deficient protein and facilitating its folding to recover its activity. Some of these molecules -baptized as sp2 imino-sugars- manage to quintuple the activity of the defective proteins of Gaucher disease patients, some 300-400 people in Spain, whose vital organs cannot process, on their own, the deposits of glucosylceramide that form in them. Gaucher disease can manifest itself with epilepsy, severe neurological damage and Parkinson’s dementia. Current treatments are only effective in the less aggressive manifestations of the disease (type 1). However, for neurological conditions (types 2 and 3 of the disease) there is no satisfactory treatment to date.
Listen to the interview made by ABC Radio-Protagonistas to José Manuel García Fernández here.
Listen to the interview made by Radio Betis to José Manuel García Fernández here.
