And now a word from Professor David Rubinsztein


Our PSMC5 foundation’s own, Professor David Rubinsztein wants to share a brief summary about what his laboratory in Cambridge is currently doing.

Question: What is your lab focusing on now for the PSMC5 Foundation?

Prof. Rubinsztein: My laboratory works on autophagy and neurodegeneration. Autophagy is a process that cells use to degrade proteins that are defective, large protein complexes and organelles, like mitochondria. Autophagy can works alongside the proteasome system to regulate the levels of potentially toxic proteins in the cells.

Question: Why are you focusing on autophagy? Are there other diseases it can help?

Prof. Rubinsztein: We have shown that increasing autophagy activity can ameliorate disease in animal models of various neurodegenerative diseases, like Huntington’s disease, Parkinson’s disease and a form of dementia.

Question: In a sentence, please describe how your work affects Ollie and Yoni.

Prof. Rubinsztein: In this project, we will be collaborating with Fred Goldberg’s laboratory to understand how the PSMC5 mutation in Ollie and Yoni may lead to disease by studying this first in cell culture systems. As PSMC5 is a component of the proteasome, we will also assess if there may be benefits in such cells if we can upregulate autophagy, among other strategies.

Thank you Professor Rubinsztein for your insight and your continued great work you are doing for Ollie, Yoni, and others affected by similar gene mutations.