Novel congenital glycosylation disorder

lefeber, Dirk.jpg

In the newest issue of the Annals of Neurology, a group of researchers from Belgium, Italy and Nijmegen led by Dr. Dirk Lefeber, report on a new concept in genetic diseases of protein glycosylation. Different types of protein glycosylation exist, such as ubiquitous protein N-glycosylation and muscle-eye-brain specific O-mannosylation. Genetic defects in such pathways generally result in a multisystem clinical phenotype in the Congenital Disorders of protein N-Glycosylation (CDG) or in a congenital muscular dystrophy with abnormal O-mannosylation. In this study, the researchers identified a mixed phenotype of both disease groups. The causing gene defect, DPM2, resulted in a biochemical deficiency of mannose, which is the sugar supply for both glycosylation reactions. Hereby, the researchers combine two previously distinct genetic disorders.

Barone R, Aiello C, Race V, Morava E, Foulquier F, Riemersma M, Passarelli C, Concolino D, Carella M, Santorelli F, Vleugels W, Mercuri E, Garozzo D, Sturiale L, Messina S, Jaeken J, Fiumara A, Wevers RA, Bertini E, Matthijs G, Lefeber DJ. DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. Ann Neurol. 72:550-8, 2012.


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