Home › Research › Biomarkers
GSN gene frameshift mutations in Alzheimer's disease
Yaling Jiang, Meidan Wan, XueWen Xiao, Zhuojie Lin, Xixi Liu, Yafang Zhou, Xinxin Liao, Jingyi Lin et al.. Journal of neurology, neurosurgery, and psychiatry, 2023-01-17
Topic: Genetics and APOE
Six patients with AD with GSN P3fs and K346fs mutations (0.50%, 6/1192) were identified, who were diagnosed with AD but not FAF. In addition, 13 patients with AD with GSN frameshift mutations were found in the validation cohort (1.47%, 13/884). Further in vitro experiments showed that both K346fs and P3fs mutations led to the GSN loss of function in inhibiting Aβ-induced toxicity. Moreover, a higher level of plasma (p=0.001) and CSF (p=0.005) GSN was observed in AD cases than controls, and a positive correlation was found between the CSF GSN and CSF Aβ42 (r=0.289, p=0.009). Besides, the GSN level was initially increasing and then decreasing with the disease course and cognitive decline. GSN frameshift mutations may be associated with AD. An increase in plasma GSN is probably a compensatory reaction in AD, which is a potential biomarker for early AD.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Jiang, Y., Wan, M., Xiao, X., Lin, Z., Liu, X., Zhou, Y., et al. (2023). GSN gene frameshift mutations in Alzheimer's disease. Journal of neurology, neurosurgery, and psychiatry. https://doi.org/10.1136/jnnp-2022-330465
Vancouver
Jiang Y, Wan M, Xiao X, Lin Z, Liu X, Zhou Y, et al. GSN gene frameshift mutations in Alzheimer's disease. Journal of neurology, neurosurgery, and psychiatry. 2023. doi:10.1136/jnnp-2022-330465. PMID: 36650038.
BibTeX
@article{jiang2023-36650038,
author = {Jiang, Yaling and Wan, Meidan and Xiao, XueWen and Lin, Zhuojie and Liu, Xixi and Zhou, Yafang and Liao, Xinxin and Lin, Jingyi and others},
title = {{GSN gene frameshift mutations in Alzheimer's disease}},
journal = {Journal of neurology, neurosurgery, and psychiatry},
year = {2023},
doi = {10.1136/jnnp-2022-330465},
pmid = {36650038},
url = {https://doi.org/10.1136/jnnp-2022-330465}
}
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. The record's author list ends in “et al.”, so not every author is named. Check the citation against the original before you use it.
Key findings
- Six patients with AD with GSN P3fs and K346fs mutations (0.50%, 6/1192) were identified, who were diagnosed with AD but not FAF.
- In addition, 13 patients with AD with GSN frameshift mutations were found in the validation cohort (1.47%, 13/884).
- Further in vitro experiments showed that both K346fs and P3fs mutations led to the GSN loss of function in inhibiting Aβ-induced toxicity.
- Moreover, a higher level of plasma (p=0.001) and CSF (p=0.005) GSN was observed in AD cases than controls, and a positive correlation was found between the CSF GSN and CSF Aβ42 (r=0.289, p=0.009).
- Besides, the GSN level was initially increasing and then decreasing with the disease course and cognitive decline.
New to this subject? Start with our plain-English guide: Blood tests & biomarkers →
Study details
- Participants1,192
- Effect size0.50%; 1.47%
- Evidence strengthModerate
How this study scored 59/100
Published in a peer-reviewed journal. Scored zero for study design and randomised / blinded because the record does not state it. We have no data on journal's citation record, times cited, citations per year, impact for its field and year, cited by studies here, still being cited, senior author's track record, institution's track record, multi-centre collaboration and free to read, so those were left out: it earned 33 of the 56 points we could judge it on, which is 59 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Journal of neurology, neurosurgery, and psychiatry) |
| Journal's citation record | — / 4 | No journal record from OpenAlex — left out of this score |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | 3 / 5 | Rated “moderate” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 3 / 5 | 2023 — within 6 year(s) of the newest study here |
| Sample size | 3 / 4 | 1,192 participants |
| Effect reported | 2 / 3 | Effect reported as a number, without an interval or test |
| Studied in people | 3 / 3 | Studied in people (participant count stated) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | — / 7 | No citation count (not found in OpenAlex) — left out of this score |
| Citations per year | — / 5 | No citation count or no year — left out of this score |
| Impact for its field and year | — / 6 | No field-weighted citation impact (OpenAlex has none yet) — left out of this score |
| Cited by studies here | — / 6 | Not yet checked against this library's citation graph — left out of this score |
| Still being cited | — / 4 | No yearly citation counts — left out of this score |
| Senior author's track record | — / 4 | Senior author's record not available — left out of this score |
| Institution's track record | — / 3 | No institution listed in OpenAlex — left out of this score |
| Multi-centre collaboration | — / 3 | Institutions not listed — left out of this score |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 36650038) |
| Free to read | — / 2 | Access not recorded — left out of this score |
| Points | 33 / 56 | Scored on 10 of 20 parts. We have no data for the rest, so they are left out: 33 of the 56 points we could judge it on is 59 out of 100. |
| Total | 59 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
Free copy unknown: no free-copy check has an answer for this record yet. That does not mean it is paywalled.
Related studies in Biomarkers
Also tagged “genetics”
346 studies in the library carry the topic tag “genetics”; these are this study's neighbours in a fixed, alphabetical-by-hash tour of them, not the closest in content. All 346 tagged studies.