Maintaining genome stability in the nervous system
Open accessAbstract
Active maintenance of genome stability is a prerequisite for the development and function of the nervous system. The high replication index during neurogenesis and the long life of mature neurons highlight the need for efficient cellular programs to safeguard genetic fidelity. Multiple DNA damage response pathways ensure that replication stress and other types of DNA lesions, such as oxidative damage, do not affect neural homeostasis. Numerous human neurologic syndromes result from defective DNA damage signaling and compromised genome integrity. These syndromes can involve different neuropathology, which highlights the diverse maintenance roles that are required for genome stability in the nervous system. Understanding how DNA damage signaling pathways promote neural development and preserve homeostasis is essential for understanding fundamental brain function.
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In neurons, base excision repair, the main pathway for repairing oxidative DNA damage, is reduced in elderly humans and in Alzheimer's disease patients.
“In neurons, BER, the primary pathway for the repair of oxidative DNA damage, is reduced in elderly humans and in AD patients (Hou et al., 2018; McKinnon, 2013).”
From NAD+ in Brain Aging and Neurodegenerative Disorders (2019) · cites this paper as McKinnon, 2013
Neurons' long lifespan and lack of sister chromatids for homologous recombination repair leave them vulnerable to DSBs.
“Neurons’ long lifespan and the lack of sister chromatids for homologous recombination repair leave them vulnerable to DSBs”
From Neuronal DNA double-strand breaks lead to genome structural variations and 3D genome disruption in neurodegeneration (2023) · cites this paper as [104]
Increased levels of both SSBs and DSBs are documented in AD, HD, PD, and ALS, and their accumulation correlates with important milestones in disease progression.
“A plethora of studies document increased levels of both SSBs and DSBs in AD, HD, PD, and ALS (Mullaart et al, 1990; Adamec et al, 1999; McKinnon, 2013, 2017; Madabhushi et al, 2014; Alt & Schwer, 2018; Shanbhag et al, 2019; Thadathil et al, 2021), and their accumulation seem to correlate with important milestones in disease progression.”
From Mechanisms of DNA damage-mediated neurotoxicity in neurodegenerative disease (2022) · cites this paper as McKinnon, 2013
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- Authors
- McKinnon, P. J.
- Affiliations
- St. Jude Children's Research Hospital (US)
- Corresponding author
- McKinnon, Peter J
- ORCID
- McKinnon, Peter J
- Venue
- Nature Neuroscience
- Published
- 2013-10-28
- Volume
- 16
- Issue
- 11
- Pages
- 1523-1529
- ISSN
- 1097-6256 (ISSN-L)
- 1546-1726
- PMC
- PMC4112580
- OpenAlex
- W2000559850
- Cited by
- 229
- References
- 100
- Citations by year
- 2026: 12 · 2025: 15 · 2024: 14 · 2023: 14 · 2022: 18 · 2021: 23 · 2020: 19 · 2019: 21 · 2018: 17 · 2017: 23 · 2016: 24 · 2015: 15 · 2014: 13
- FWCI
- 1.63
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Neuroscience (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Cancer Institute (CA96832, P 30CA 21765, P01CA096832, P30CA021765)
- National Institute of Neurological Disorders and Stroke (NS37956, R56NS037956, R01NS037956)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Life Sciences › Neuroscience › Developmental Neuroscience › Neurogenesis and neuroplasticity mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Aging › Genetics, Aging, and Longevity in Model Organisms
- Keywords
- genome stability, DNA damage response, nervous system, postmitotic neurons, neurogenesis, brain development, aging, replication stress, oxidative DNA damage, neurological syndromes, neuronal homeostasis, DNA repair
- MeSH terms
- Animals, DNA Damage, DNA Repair, Humans, Nervous System, Nervous System Diseases, Genomic Instability
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