Mutant huntingtin induces neuronal apoptosis via derepressing the non-canonical poly(A) polymerase PAPD5

Abstract MicroRNAs (miRNAs) are small non-coding RNAs that play crucial roles in post-transcriptional gene regulation. Poly(A) RNA polymerase D5 (PAPD5) catalyzes the addition of adenosine to the 3′ end of miRNAs. In this study, we demonstrate that the Yin Yang 1 protein, a transcriptional repressor...

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Main Authors: Zhefan Stephen Chen, Shaohong Isaac Peng, Lok I Leong, Terence Gall-Duncan, Nathan Siu Jun Wong, Tsz Ho Li, Xiao Lin, Yuming Wei, Alex Chun Koon, Junzhe Huang, Jacquelyne Ka-Li Sun, Clinton Turner, Lynette Tippett, Maurice A. Curtis, Richard L. M. Faull, Kin Ming Kwan, Hei-Man Chow, Ho Ko, Ting-Fung Chan, Kevin Talbot, Christopher E. Pearson, Ho Yin Edwin Chan
Format: Article
Language:English
Published: Nature Portfolio 2025-04-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-025-58618-4
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Summary:Abstract MicroRNAs (miRNAs) are small non-coding RNAs that play crucial roles in post-transcriptional gene regulation. Poly(A) RNA polymerase D5 (PAPD5) catalyzes the addition of adenosine to the 3′ end of miRNAs. In this study, we demonstrate that the Yin Yang 1 protein, a transcriptional repressor of PAPD5, is recruited to both RNA foci and protein aggregates, resulting in an upregulation of PAPD5 expression in Huntington’s disease (HD). Additionally, we identify a subset of PAPD5-regulated miRNAs with increased adenylation and reduced expression in our disease model. We focus on miR-7-5p and find that its reduction causes the activation of the TAB2-mediated TAK1–MKK4–JNK pro-apoptotic pathway. This pathway is also activated in induced pluripotent stem cell-derived striatal neurons and post-mortem striatal tissues isolated from HD patients. In addition, we discover that a small molecule PAPD5 inhibitor, BCH001, can mitigate cell death and neurodegeneration in our disease models. This study highlights the importance of PAPD5-mediated miRNA dysfunction in HD pathogenesis and suggests a potential therapeutic direction for the disease.
ISSN:2041-1723