In vivo trafficking of mutant and wild-type glucocerebrosidase-GFP chimerae

Tessa Campbell’s research has a clear purpose: improving treatment options for Gaucher disease. People with this genetic disorder lack sufficient amounts of glucocerebrosidase, an enzyme the body needs to help recycle old membrane fat. The fat accumulates in certain body tissues such as the spleen, liver, and bone marrow, resulting in problems ranging from anemia to neurological impairment. Enzyme replacement therapy helps to alleviate symptoms for one type of Gaucher disease, but the therapy’s exorbitant cost prevents many from receiving the treatment. Tessa created specially-marked versions of the gene for this enzyme, introduced them into cells, and studied the resulting protein synthesis and trafficking. Tessa also employed cutting edge RNA interference technology to further examine regulation of glucocerebrosidase protein production. Results from the research provide insights about maximizing efficiency of enzyme production and secretion, which could reduce enzyme replacement therapy costs. Results also offer further clues to glucocerebrosidase translational control and shed light upon possible involvement of inhibitory proteins in other cellular pathways.