Abstract for presentation at 11th International Congress of Human Genetics

Deficiencies in different subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorder of Glycosylation

  • Gert Matthijs, Center for Human Genetics, University of Leuven, Belgium
  • François Foulquier, Center for Human Genetics, University of Leuven, Belgium
  • Elisa Vasile, Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, United States
  • Daniel Ungar, Department of Molecular Biology, Princeton University, Princeton, NJ
  • Monty Krieger, Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, United States
  • Willem Annaert, Laboratory for Membrane Trafficking, University of Leuven and VIB04, Belgium

    • Congenital Disorders of Glycosylation (CDG) are a group of rare, genetic disorders characterized by defects in one of the many enzymes, transporters or other functional proteins, required in the glycosylation pathway. Up to now, more than 15 defects have been described, mainly in the endoplasmic reticulum (Type I) and in the Golgi compartment (Type II). Whereas these CDG cases have defects in genes encoding proteins directly involved in the glycosylation process, recent work has shown that the abnormalities may also be due to abnormal intracellular trafficking of resident Golgi enzymes or transporters involved in glycosylation. Indeed, the function of the Golgi is dependent of the correct localization of all glycosylation enzymes and other resident proteins. The Conserved Oligomeric Golgi (COG) complex plays a key role in the vesicular transport. We have identified two CDG-II patients with two different COG deficiencies (COG1 and COG8). The patients have a multi-system disease with severe neurological involvement. The mutations destabilize other COG subunits, and affect the subcellular localization and hence the overall integrity of the COG complex. Deficiencies in this complex thus define a new group of glycosylation disorders.

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