Solving A Decade-Long Mystery: Neurons Hold The Key To Rare Neurological Diseases

Authors

DOI:

https://doi.org/10.25250/thescbr.brk673

Keywords:

dementia, neurons, RNA

Abstract

Amyotrophic lateral sclerosis and frontotemporal dementia are devastating neurological diseases. Yet, there is no effective treatment for them. We uncovered a genetic cause of these diseases leading to a cryptic process in neurons caused by a malfunctioning protein. Our finding might help provide a potential new therapy for such neurological diseases.

 

Author Biography

Anna-Leigh Brown, University College London

Graduate student

Original article reference

Brown, A.-L., Wilkins, O. G., Keuss, M. J., Hill, S. E., Zanovello, M., Lee, W. C., Bampton, A., Lee, F. C. Y., Masino, L., Qi, Y. A., Bryce-Smith, S., Gatt, A., Hallegger, M., Fagegaltier, D., Phatnani, H., Phatnani, H., Kwan, J., Sareen, D., Broach, J. R., … Fratta, P. (2022). TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A. Nature, 603(7899), 131–137. https://doi.org/10.1038/s41586-022-04436-3

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Published

2023-02-06

Issue

Vol. 9 No. 1 (2023): TheScienceBreaker

Section

Neurobiology

License

Some rights reserved 2023 Anna-Leigh Brown

Creative Commons License

This work is licensed under a Creative Commons Attribution-ShareAlike 4.0 International License.