Alpha-synuclein modulates the repair of genomic DNA double-strand breaks in a DNA-PKcs-regulated manner

α-synuclein (αSyn) is a presynaptic and nuclear protein that aggregates in important neurodegenerative diseases such as Parkinson's Disease (PD), Parkinson's Disease Dementia (PDD) and Lewy Body Dementia (LBD). Our past work suggests that nuclear αSyn may regulate forms of DNA double-strand break (DSB) repair in HAP1 cells after DNA damage induction with the chemotherapeutic agent bleomycin<sup>1</sup>. Here, we report that genetic deletion of αSyn specifically impairs the non-homologous end-joining (NHEJ) pathway of DSB repair using an extrachromosomal plasmid-based repair assay in HAP1 cells. Notably, induction of a single DSB at a precise genomic location using a CRISPR/Cas9 lentiviral approach also showed the importance of αSyn in regulating NHEJ in HAP1 cells and primary mouse cortical neuron cultures. This modulation of DSB repair is regulated by the activity of the DNA damage response signaling kinase DNA-PK<sub>cs</sub>, since the effect of αSyn loss-of-function is reversed by DNA-PK<sub>cs</sub> inhibition. Together, these findings suggest that αSyn plays an important physiologic role in regulating DSB repair in both a transformed cell line and in primary cortical neurons. Loss of this nuclear function may contribute to the neuronal genomic instability detected in PD, PDD and LBD and points to DNA-PK<sub>cs</sub> as a potential therapeutic target.

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Publication Details

Journal
Neurobiology of Disease
Published
2024-09-19
DOI
https://doi.org/10.1016/j.nbd.2024.106675
Citations
15
Primary Topic
DNA Repair Mechanisms
Type
article
Field-Weighted Citation Impact
3.51

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article

Alpha-synuclein modulates the repair of genomic DNA double-strand breaks in a DNA-PKcs-regulated manner

Vera Gorbunova, Elizabeth P. Rose, Valerie R. Osterberg, Vivek K. Unni
15 citations
Neurobiology of Disease
DNA Repair Mechanisms
3.51
article

Alpha-synuclein modulates the repair of genomic DNA double-strand breaks in a DNA-PKcs-regulated manner

Vera Gorbunova, Elizabeth P. Rose, Valerie R. Osterberg, Vivek K. Unni
article en
15 citations

Abstract

α-synuclein (αSyn) is a presynaptic and nuclear protein that aggregates in important neurodegenerative diseases such as Parkinson's Disease (PD), Parkinson's Disease Dementia (PDD) and Lewy Body Dementia (LBD). Our past work suggests that nuclear αSyn may regulate forms of DNA double-strand break (DSB) repair in HAP1 cells after DNA damage induction with the chemotherapeutic agent bleomycin<sup>1</sup>. Here, we report that genetic deletion of αSyn specifically impairs the non-homologous end-joining (NHEJ) pathway of DSB repair using an extrachromosomal plasmid-based repair assay in HAP1 cells. Notably, induction of a single DSB at a precise genomic location using a CRISPR/Cas9 lentiviral approach also showed the importance of αSyn in regulating NHEJ in HAP1 cells and primary mouse cortical neuron cultures. This modulation of DSB repair is regulated by the activity of the DNA damage response signaling kinase DNA-PK<sub>cs</sub>, since the effect of αSyn loss-of-function is reversed by DNA-PK<sub>cs</sub> inhibition. Together, these findings suggest that αSyn plays an important physiologic role in regulating DSB repair in both a transformed cell line and in primary cortical neurons. Loss of this nuclear function may contribute to the neuronal genomic instability detected in PD, PDD and LBD and points to DNA-PK<sub>cs</sub> as a potential therapeutic target.

Neurobiology of DiseaseVol. 201
Oregon Health & Science University (US), Vollum Institute (US), Center for Neurosciences (US), University of Rochester (US)
Johnson Family Foundation, Oregon Health and Science University, National Institutes of Health
Openalex Percentile: Top 6%
DNA Repair Mechanisms
3.51
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Alpha-synuclein modulates the repair of genomic DNA double-strand breaks in a DNA-PKcs-regulated manner — Vera Gorbunova, Elizabeth P. Rose, et al. · Neurobiology of Disease (2024) | TGRS Research Map | TGRS