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Feb 19

Research Bit: TMEM106B and TMEM175: Lysosomal players in neurodegenerative disease pathogenesis

Research Bits
The Packard Center welcomed Alice Chen-Plotkin from the University of Pennsylvania to a recent Investigator's meeting.

Date: February 19, 2021

Presenter: Alice Chen-Plotkin, PhD

Talk Title: TMEM106B and TMEM175: Lysosomal players in neurodegenerative disease pathogenesis

What was the question being asked?

Genome wide association studies are commonly used to identify genetic loci that are associated with neurodegenerative disease. However, functional studies linking these loci to pathophysiology of disease are lacking. The Chen-Plotkin lab seeks to understand how two genetic loci previous identified in genome wide association studies contribute to ALS and related neurodegenerative diseases.

Why is this important for ALS research?

Identification of these genetic risk factors for disease is only one piece of the puzzle. Elucidating how these genes impact cellular function and/or known disease pathologies is critical for our understanding of neurodegenerative disease pathogenesis

What was the take-home message?

Recent work in the Chen-Plotkin lab has uncovered a biological role for a genetic risk gene, TMEM106B in protein homeostasis. Specifically, loss of TMEM106B impacts TDP-43 aggregation. As TDP-43 is considered to be a pathological hallmark of multiple neurodegenerative diseases including ALS/FTD, these studies provide novel insights into how genetic risk factors can modify disease pathology.

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

With an enhanced understanding of how genetic loci and/or risk factors impact cellular function, we can continue to refine the biological pathways and protein for which therapeutic intervention may prove beneficial.

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