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Mechanism underlying a risk gene in neurodegeneration

Messenger RNA from the gene UNC13A is misprocessed in people who have neurodegenerative diseases known as ALS and FTD. The discovery could explain the disease risk associated with variants in this gene.
  1. Noa Lipstein

    1. Noa Lipstein is at the Leibniz-Forschungsinstitut für Molekulare Pharmakologie and in the NeuroCure Cluster of Excellence, 13125 Berlin, Germany.

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Two devastating neurodegenerative diseases, motor neuron disease (amyotrophic lateral sclerosis; ALS) and frontotemporal dementia (FTD), share common risk factors and involve similar cellular abnormalities. Despite immense efforts, research has identified only a few genes in which variants are linked to the risk of developing these diseases. One such gene is UNC13A, variations in which have been strongly associated with the risk1,2 of both ALS and FTD, and with faster disease progression3. Writing in Nature, Brown et al.4 and Ma et al.5 identify a functional link between UNC13A and the activity of TDP-43, a protein involved in neurodegeneration; they also provide evidence to explain the risk brought about by variations in UNC13A. Their work brings together disparate information to provide a more coherent picture of how ALS and FTD might progress.

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Nature 603, 33-34 (2022)

doi: https://doi.org/10.1038/d41586-022-00383-1

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Competing Interests

The author declares no competing interests.

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