BBA - Molecular Basis of Disease - Genetic Glycosylation Diseases
BBA - Molecular Basis of Disease Genetic Glycosylation Diseases
Edited by J. Jaeken and G. Matthijs Volume 1792, Issue 9, Pages 823-930 (September 2009)
This volume on Congenital Disorders of Glycosylation (CDG) appears 10 years after the magnificent BBA volume on the Molecular Basis of Glycoconjugate Diseases edited by Harry Schachter [1]. We are very happy and proud that this charming “pope” of glycobiology has in turn agreed to contribute to the present volume. In these 10 years, CDG (formerly called Carbohydrate-deficient Glycoprotein Disorders) have come of age. In 1999, only 6 CDG were known: in a mutase (CDG-Ia), an isomerase (CDG-Ib), a glucosyltransferase (CDG-Ic), a mannosyltransferase (CDG-Id), an N-acetylglucosaminyltransferase (CDG-IIa), and a galactosyltransferase (B4GALT7 defect). This number has increased to more than 40 by now including also defects in glycosidases, chaperons, oligosaccharyltransferase, transporters, a kinase and a flippase (see synoptic table in [2]). Besides the known defects in protein N-glycosylation and protein O-glycosylation, new subfamilies have emerged in particular the combined protein N- and O-glycosylation defects, dolichol metabolism defects, glycosylphosphatidylinositol anchor defects and glycolipid synthesis defects. Moreover, genetic diseases due to hyperglycosylation have been recognized [3].
Dr. Jaak Jaeken is an emeritus professor of pediatrics at the University of Leuven, Belgium. He received his M.D. degree from the University of Leuven in 1967. From 1967 to 1973 he trained in pediatrics at the same university. Subsequently he completed a fellowship in metabolic diseases at the University of Zürich in the laboratory of Dr. Richard Gitzelmann. In 1975 he returned to Leuven as a clinical investigator with main topics such as disorders in the metabolism of ammonia, amino acids, neurotransmitters and purines, and the congenital disorders of glycosylation which he first described in 1980. He received his Ph.D. in 1985. In 1999 he received the degree of Doctor Honoris Causa from the University of Zürich, and in 2000 from the University of Havana.
Gert Matthijs (°1963), Ph.D., is the head of the Laboratory for Molecular Diagnostics at the Center for Human Genetics in Leuven, and professor at the University of Leuven, Belgium. He is a molecular geneticist, involved in the diagnostics of inherited diseases since 1994. His major research interest is in Congenital Disorders of Glycosylation (CDG), a group of rare inborn errors of metabolism. He is the coordinator of Euroglycanet, a European project focusing on the identification of novel defects and the generation of mouse models for CDG. For this work on CDG, he received the “Körber European Science Award” in 2004, together with Prof. von Figura, Prof. Aebi, Prof. Hennet, Prof. Jaeken and Prof. Lehle. He is the deputy-coordinator of Eurogentest, a network of excellence (NoE) for development, harmonization, validation and standardization of genetic testing in Europe, funded by the European Commission. He was also actively involved in the European opposition against the BRCA patents. At the national level, he has been a driving force for a revision of the reimbursement system for genetic tests.
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