Scientists unravel complex machinery of cell function

Intriguing new work on the behavior of sugar molecules in the body, known as glycans, just published by UGA researchers. The research, startling in its breadth, is focused on the causes of a debilitating brain disease:

These complex carbohydrate chains perform a host of vital functions, providing the necessary machinery for cells to communicate, replicate and survive. It stands to reason, then, that when something goes wrong with a person's glycans, something goes wrong with them.

Now, researchers at the University of Georgia are learning how changes in normal glycan behavior are related to a rare but fatal lysosomal disease known as Niemann-Pick type C (NPC), a genetic disorder that prevents the body from metabolizing cholesterol properly. The findings were published recently in the PNAS Early Edition.

"We are learning that the problems associated with cholesterol trafficking in the cell lead to problems with glycans on the cell's surface, and that causes a multitude of negative effects," said Geert-Jan Boons, professor of chemistry in the Franklin College of Arts and Sciences and researcher at UGA's Complex Carbohydrate Research Center. "Now, for the first time, we can see what these problems are, which we hope will lead to a new understanding of diseases like NPC."

Because NPC patients are unable to metabolize cholesterol, the waxy substance begins to accumulate in the brain. This can lead to a host of serious problems, including neurodegeneration, which the researchers hypothesize may be caused by improper recycling of glycans on the surface of an NPC patient's cells.

Congratulations to the researchers and as we've acknowledged previously, building the infrastructure that facilitates this kind of work is also one of the keys to its progress. This is the level of research that private sector R & D will simply not support, for obvious reasons of time and expense. We are grateful to Boons and his team, and to the university research leadership for putting talented people in a position to succeed. The Complex Carbohydrate Research Center is at the locus of this effort,  bringing together Franklin College researchers from Chemistry, Biochemistry and Molecular Biology.