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Neurodegenerative gene’s function is not all about those bases

A mutation in the C9orf72 gene is the most common genetic cause of two neurodegenerative diseases. A newly identified immunological function for the C9orf72 protein points to a potential therapeutic strategy for these diseases.
  1. Olivia Gautier

    1. Olivia Gautier is in the Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA.

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  2. Aaron D. Gitler

    1. Aaron D. Gitler is in the Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA.

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The most common genetic cause of two neurodegenerative disorders, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), is the mutation of a gene called C9orf721. The mutation involves expansion of a section of DNA in which six bases — four guanine bases followed by two cytosine — are repeated many times. Much research has focused on the hypothesis that this alteration produces rogue RNAs or proteins that are toxic to cells. However, the mutation also lowers the amount of normal C9orf72 protein, which might contribute to disease. Writing in Nature, McCauley et al.2 report a mechanism by which reduced C9orf72 function causes defects in the immune system. Their findings might explain why people with ALS and FTD who harbour the C9orf72 mutation seem to be susceptible to autoimmune disorders3.

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Nature 585, 34-35 (2020)

doi: https://doi.org/10.1038/d41586-020-02382-6

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