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Genome instability in Alzheimer disease
Hou Y, Song H, Croteau DL, Akbari M, Bohr VA.. Mechanisms of ageing and development, 2016-04-20
Topic: Amyloid, tau and blood-test diagnosis
Alzheimer's disease (AD) is a progressive neurodegenerative disorder and the most common form of dementia. Autosomal dominant, familial AD (fAD) is very rare and caused by mutations in amyloid precursor protein (APP), presenilin-1 (PSEN-1), and presenilin-2 (PSEN-2) genes. The pathogenesis of sporadic AD (sAD) is more complex and variants of several genes are associated with an increased lifetime risk of AD.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Hou, Y., Song, H., Croteau, D. L., Akbari, M., & Bohr, V. A. (2017). Genome instability in Alzheimer disease. Mechanisms of ageing and development. https://doi.org/10.1016/j.mad.2016.04.005
Vancouver
Hou Y, Song H, Croteau DL, Akbari M, Bohr VA. Genome instability in Alzheimer disease. Mechanisms of ageing and development. 2017. doi:10.1016/j.mad.2016.04.005. PMID: 27105872.
BibTeX
@article{hou2017-27105872,
author = {Hou, Y. and Song, H. and Croteau, D. L. and Akbari, M. and Bohr, V. A.},
title = {{Genome instability in Alzheimer disease}},
journal = {Mechanisms of ageing and development},
year = {2017},
doi = {10.1016/j.mad.2016.04.005},
pmid = {27105872},
url = {https://doi.org/10.1016/j.mad.2016.04.005}
}
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Key findings
- Autosomal dominant, familial AD (fAD) is very rare and caused by mutations in amyloid precursor protein (APP), presenilin-1 (PSEN-1), and presenilin-2 (PSEN-2) genes.
- The pathogenesis of sporadic AD (sAD) is more complex and variants of several genes are associated with an increased lifetime risk of AD.
- Nuclear and mitochondrial DNA integrity is pivotal during neuronal development, maintenance and function.
- DNA damage and alterations in cellular DNA repair capacity have been implicated in the aging process and in age-associated neurodegenerative diseases, including AD.
Why it matters
This review discusses DNA damage and altered DNA repair capacity in relation to Alzheimer's disease, alongside the known genetic causes of familial and sporadic forms. It describes mechanisms and reports no treatment, cure or prevention.
New to this subject? Start with our plain-English guide: Genetics →
Study details
- Evidence strengthLow
How this study scored 45/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Mechanisms of ageing and development) |
| Journal's citation record | 2 / 4 | Mechanisms of Ageing and Development: journal h-index 172 (OpenAlex, 2026-10-29) |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | 1 / 5 | Rated “low” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 2 / 5 | 2017 — within 10 year(s) of the newest study here |
| Sample size | 0 / 4 | Participant count not stated — scores zero (not stated in the record — scored 0) |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 0 / 3 | Not stated whether this was studied in people — scores zero (not stated in the record — scored 0) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 5 / 7 | Cited 120 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 10.9 citations a year over 11 year(s) since 2017 |
| Impact for its field and year | 3 / 6 | Cited 6.2× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 0 / 6 | No other study in this library cites it |
| Still being cited | 2 / 4 | Cited 26 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Vilhelm A. Bohr: h-index 121 (OpenAlex, whole career) |
| Institution's track record | 3 / 3 | National Institutes of Health: institution h-index 2,723 (OpenAlex) |
| Multi-centre collaboration | 1 / 3 | OpenAlex lists 3 institution(s) in 2 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 27105872) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 45 / 100 | — |
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