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Comment
. 2021 May;37(5):404-406.
doi: 10.1016/j.tig.2021.01.008. Epub 2021 Feb 4.

Open Access: A Role for p53 in c9ALS/FTD?

Charlotte M Fare  1 , James Shorter  2
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Comment

Open Access: A Role for p53 in c9ALS/FTD?

Charlotte M Fare et al. Trends Genet. 2021 May.

Abstract

Poly(PR), a toxic dipeptide-repeat protein, translated from the pathogenic G4C2 repeat expansion in C9orf72, contributes to c9 amyotrophic lateral sclerosis/frontotemporal dementia (c9ALS/FTD). However, precisely how poly(PR) elicits neurodegeneration has remained unclear. Maor-Nof et al. now establish that poly(PR) remodels the neuronal epigenome to promote proapoptotic p53 activity involving PUMA, which drives neurodegeneration in several models.

Keywords: PUMA; TDP-43; c9ALS/FTD; dipeptide-repeat protein; p53; poly(PR).

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  • p53 is a central regulator driving neurodegeneration caused by C9orf72 poly(PR).
    Maor-Nof M, Shipony Z, Lopez-Gonzalez R, Nakayama L, Zhang YJ, Couthouis J, Blum JA, Castruita PA, Linares GR, Ruan K, Ramaswami G, Simon DJ, Nof A, Santana M, Han K, Sinnott-Armstrong N, Bassik MC, Geschwind DH, Tessier-Lavigne M, Attardi LD, Lloyd TE, Ichida JK, Gao FB, Greenleaf WJ, Yokoyama JS, Petrucelli L, Gitler AD. Maor-Nof M, et al. Cell. 2021 Feb 4;184(3):689-708.e20. doi: 10.1016/j.cell.2020.12.025. Epub 2021 Jan 21. Cell. 2021. PMID: 33482083 Free PMC article.

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