July 21, 2017
Mucopolysaccharidosis type II (MPS-II) is a genetic disease caused by the inability to breakdown large molecules called glycosaminoglycans. MPS-II is caused by the deficiency of an enzyme located in the lysosome, essential recycling units present in each cell. In MPS-II, the accumulation of undegraded material results in dysfunction of the lysosomes, compromising the entire cells and ultimately multiple organs/systems. The mechanisms how the storage of glycosaminoglycans can severely affect brain causing severe mental disabilities have not been fully elucidated. Using a new technology, we are now able to convert skin cells into brain cells, called “induced-neuronal cells”. The hypothesis of the project is that the induced-neuronal cells from patients are research tools to study mechanisms causing the neurological problems in MPSII. In this project, I aim to convert skin cells from MPS-II patients into the induced-neuronal cells and determine how they can be used to study brain disease in MPS-II. The results of this project will provide cell-model to study the brain disease in the MPS-II, which can subsequently result in the discovery of novel treatments for the neurological problems commonly seen in affected patients.
– Gustavo H.B. Maegawa, MD, PhD
Johns Hopkins School of Medicine, Department of Pediatrics
Baltimore, MD
