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Jun 15
2020

Research Bit: A c elegans model for c9orf72-associated ALs uncovers a conserved role for eif2d in ran translation

Research Bits
The Packard Center welcomed Paschalis Kratsios from the University of Chicago to a recent Investigator's meeting

Date: June 12, 2020

Presenter: Paschalis Kratsios, PhD

Talk Title: A c elegans model for c9orf72-associated ALs uncovers a conserved role for eif2d in ran translation

What was the question being asked?

What are the cellular factors that facilitate the production of the toxic dipeptide repeats (DPRs)?

Why is this important for ALS research?

A lot of time is spent trying to understand how the dipeptide repeats (DPRs; proteins that are produced from abnormal repeat-containing RNA) produced as a result of the C9orf72 mutation lead to neuronal death. One potential work-around is to prevent their production in the first place. This work represents and effort to understand how the DPRs are produced, which can later be utilized to prevent that from happening.

What was the take-home message?

C. elegans (nematodes) are a useful model organism since they can be genetically altered in very specific ways. Using a strain of C. elegans that contains the C9orf72 mutation, they have discovered a specific protein (eIF2D) in cells that helps produce toxic DPRs. Importantly, when they reduce the amount of eIF2D in neurons, they are able to reduce the production of these DPRs but not other proteins. This makes for an effective way to potentially prevent neurons from dying, without off-target effects on normal cell function.

How do you think the results of this study might impact future approaches to the treatment of ALS?

These results provide important insight into how DPRs are produced, leading the way for future investigations to fine-tune therapies that focus on DPRs.

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