MCW researcher receives funding to investigate lysosome storage disease treatments

April 4, 2016 MCW News - The Medical College of Wisconsin (MCW) has received a 4-year, $2.4 million grant from the National Institutes of Health’s National Institute of Diabetes and Digestive and Kidney Diseases to study the mechanism of enzyme delivery to lysosomes and treatments for lysosomal storage diseases (LSD).

Nancy M. Dahms, PhD, professor of biochemistry at MCW, is the primary investigator of the project that is in year 22 of funding from the National Institutes of Health.

Lysosomes are the recycling centers of the cell that break down biological matter, digest bacteria and mobilize alternative sources of energy. Lysosomes depend on a collection of more than 60 different enzymes that are continuously replenished. All of the newly synthesized enzymes are delivered to the lysosome by transport proteins called mannose 6-phosphate receptors.

Lysosomal storage diseases (LSD) result from the loss of a single enzyme. Characteristic of these progressive and degenerative diseases is the cellular accumulation of non-degraded material. LSDs constitute a significant portion of inherited metabolic disorders with patients exhibiting a wide range of clinical symptoms including developmental delay, movement disorders, stroke, seizures, dementia, deafness and blindness. Treatment is largely symptomatic with few widely recognized therapies.

The study will investigate how mannose 6-phosphate receptors function in the creation of lysosomes and how they can be used to mitigate LSDs. From this research, new strategies for the treatment of LSDs and other human diseases dependent upon lysosomal function can be developed in the future.

MCW co-investigators in this study are Jung-Ja Kim, PhD and Brian Volkman, PhD. Other key contributors include Linda Olson, PhD, Francis Peterson, PhD, Sally Twining, PhD and Rebekah Gundry, PhD.