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Contenuto archiviato il 2024-05-29

Identification and characterization of novel genetic defects in unsolved Congenital Disorders of N-glycosylation type II (CDG-IIx) patients


Glycobiology is considered as an emerging field of biology and the importance of complex carbohydrates in health and disease is increasingly recognized. In the last decade, a new group of diseases related to defects of glycosylation and called Congenita l Disorders of Glycosylation (CDG) has been identified. CDG can be divided into two groups according to the molecular defects, CDG-Iand CDG-II. Group I disorders relate to defects in the synthesis of the N-glycan in the endoplasmicreticulum.

This project relates to Group II disorders, which arise from the defects in the processing of the glycans, mainly in the Golgi apparatus. Given the complexity and the large number of enzymatic steps involved in protein glycosylation in this compartment, the number of unsolved cases of CDG-II(CDG-IIx) has considerably increased. The INOV-CDG project aims to identify and characterize novel genetic defects in these CDG-llxpatients. This will be done by a multidisciplinary approach, which includes: The characterization by novel techniques of abnormal glycans structure in these patients, to pinpoint the defective step(s) and select the candidate gene(s). The systematic screening for mutations in these genes or gene-families. The functional analysis, in expression studies or complement at ion assays of the pathogenic nature of the mutation(s). In addition, we propose a novel hypothesis for defects that may derive from a mislocalization of the culprit glycosyltransferases.

This project combines knowledge from the genetics and glycobiology, to further the understanding of the molecular and biochemical basis of a group of rare disorders. It fits within the objectives of the thematic area "Combating, cardiovascular disease, diabetes and rare diseases" and is specifically aiming at bringing the bas ic knowledge through to the clinical understanding, for the sake of the patients and their families.

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