From the neurons that enable thought to the keratinocytes that make toenails grow, a complex canopy of sugar molecules envelop every living cell in the human body.
These complex carbohydrate chains, commonly known as glycans, 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 that person.
Now, researchers at UGA are learning how changes in normal glycan behavior are related to a rare, but fatal, lysosomal disease known as Niemann-Pick type C. The genetic disorder, also called NPC, 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.
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.
The researchers made these observations in fibroblasts taken from diseased patients. These cells most commonly are found in connective tissues and they play a vital role in wound healing.
However, researchers hope to continue their investigation into the effects of NPC by studying glycan behavior in neural cells, which make up the human brain.