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Nov 8

Research Bit: Development of animal models for KIF5A-associated ALS mutations

Research Bits
The Packard Center welcomed Steven Kolb, M.D., Ph.D, from The Ohio State University Wexner Medical Center to a recent Investigator's Meeting.

Meeting Date: November 8, 2019

Presenter: Steven Kolb, MD, PhD

Talk Title: Development of animal models for KIF5A-associated ALS mutations

What was the question being asked?

Mutations in the gene encoding KIF5A, a protein involved in the transport of organelles and other cargoes along axons in neurons, have recently been associated with ALS. The Kolb lab now seeks to develop mouse models expressing KIF5A mutants to model KIF5A mediated disease progression and answer critical questions regarding how mutant KIF5A might elicit neurodegeneration.

Why is this important for ALS research?

In order to further our understanding of the mechanisms underlying ALS pathogenesis, it is essential to evaluate how individual genetic mutations associated with ALS and related neurodegenerative diseases, lead to neuronal dysfunction. Ultimately, this will help to identify viable therapeutic targets and strategies for the treatment of disease.

What was the take-home message?

Mutations in KIF5A have been associated with multiple neurodegenerative diseases including ALS. Interestingly, ALS associated mutations are located in a region of the KIF5A gene distinct from those associated with other neurodegenerative diseases. Understanding the specific biological implications and differences between both sets of KIF5A mutations will advance our understanding of cell type specificity within neurodegenerative disease. The development of animal models is essential for this to occur.  

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

Studies using the newly generated KIF5A mutant mice will shed light on the specific biological processes affected by ALS mutations and highlight therapeutic strategies that may be beneficial for ALS but not other related neurodegenerative diseases resulting from different KIF5A mutations.

Alyssa Coyne, PhD
Postdoctoral Fellow, Rothstein Lab
The Johns Hopkins University School of Medicine

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