MCW researcher receives funding to investigate lysosome storage disease treatments
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.
This project is funded through NIH grant 2R01DK042667-22A1
About the Medical College of Wisconsin
The Medical College of Wisconsin is the state’s only private medical school and health sciences graduate school. Founded in 1893, it is dedicated to leadership and excellence in education, patient care, research and community engagement. More than 1,200 students are enrolled in MCW’s medical school and graduate school programs in Milwaukee, and 26 medical students are enrolled at MCW-Green Bay. A regional medical education campus is scheduled to open in Central Wisconsin in 2016. MCW’s School of Pharmacy will open in 2017 or 2018 with an initial class size of 60 students. A major national research center, MCW is the largest research institution in the Milwaukee metro area and second largest in Wisconsin. In FY 2013-14, faculty received approximately $154 million in external support for research, teaching, training and related purposes, of which approximately $138 million is for research. This total includes highly competitive research and training awards from the National Institutes of Health (NIH). Annually, MCW faculty direct or collaborate on more than 2,000 research studies, including clinical trials. Additionally, more than 1,350 physicians provide care in virtually every specialty of medicine for more than 425,000 patients annually.
