Grant funding helps continue research on hereditary spastic paraplegias
Grant funding helps continue research on hereditary spastic paraplegias
An $80,000 grant from the Carter Foundation for Neurologic Research will help fund an investigation by UICOMR researchers that could lead to developing potential treatments for a type of hereditary spastic paraplegia called type 3A, the most common early-onset form of HSP.
Xue-jun Li, PhD, is the principal investigator on the study. Dr. Li is the Michael A. Werckle Professor of Biomedical Sciences and co-director of the Regenerative Medicine and Disabilities Laboratory in the UICOMR Department of Biomedical Sciences.
HSPs are a group of inherited diseases caused by the degeneration of nerve cells that control the movement of muscles, leading to spasticity and weakness of the leg and hip muscles. The mutations in the ATL1 gene underlie spastic paraplegia type 3A. Currently, no effective treatment to mitigate nerve degeneration in HSP exists, partially due to the lack of patient-specific nerve cells to test and identify therapeutic agents.
By reprogramming patient skin cells into induced pluripotent stem cells and then differentiating these stem cells into nerve cells, this study will generate patient-specific nerve cells that carry disease-specific ATL1 mutations. These patient-specific nerve cells provide a unique source to test therapeutic agents, and this study will test the efficacy of therapeutic compounds targeting multiple pathways. Moreover, using metabolomics analysis, this study will identify biomarkers for SPG3A, which can be used to monitor disease progression and evaluate drug efficacy. Taken together, this study will provide valuable insights into identifying new targets and developing potential therapies for SPG3A.