Final Research Progress Report Ming Li, PhD and Jacob Kitzman, PhD, University of Michigan

The research study, “Dissect the Protein Turnover Mechanism of Cystinosis Mutants” received a CRF research grant of $285,648 in 2018.  Dr. Li explained in lay terms the purpose of the study,  “some people consider it as an “overkill” for grocery stores to throw away expired food even though most of them can still be consumed. Similarly, the lysosome has a strict protein quality control (QC) system that sometimes “overkills.” Genetic mutations in some cystinosis patients can lead to the premature destruction of their cystinosin even though the protein is still functional. Studying this QC system will enable us to prevent the premature destruction of cystinosin in patients and lead to the development of new treatment strategies.

Relevance to the Understanding and/or Treatment of Cystinosis

Our study will provide a new mechanism for the pathogenesis of Cystinosis. We believe that the premature destruction of certain cystinosin mutants might be an “overkill” caused by the lysosomal protein quality control system. Finding ways to inhibit this quality control system can be a new strategy to treat cystinosis.

Final Research Report