Home › Research › TREM2 and immune genetics
Distribution and signaling of TREM2/DAP12, the receptor system mutated in human polycystic lipomembraneous osteodysplasia with sclerosing leukoencephalopathy dementia
Sessa G, Podini P, Mariani M, Meroni A, Spreafico R, Sinigaglia F, Colonna M, Panina P et al.. The European journal of neuroscience, 2004-11-01
Topic: Brain proteins, microglia and lab models
Plain-language summary
Together with its adaptor protein, the adaptor protein of 12 kDa also known as KARAP and TYROBP (DAP12), triggering receptor expressed in myeloid cells 2 (TREM2) is a stimulatory membrane receptor of the immunoglobulin/lectin-like superfamily, well known in myeloid cells. In humans, however, loss-of-function mutations of TREM2/DAP12 leave myeloid cells unaffected but induce an autosomal recessive disease characterized, together with bone cysts, by a spectrum of pathological lesions in the cortex, thalamus and basal ganglia with clinical symptoms of progressive dementia (polycystic lipomembraneous osteodysplasia with sclerosing leukoencephalopathy). Nothing was known about the role of TREM2/DAP12 in brain cell biology and physiology.
What this study adds
Evidence grade: Low
Mutations in TREM2/DAP12 cause a rare inherited disease with bone cysts and "progressive dementia"; when this 2004 study was done, "nothing was known about the role of TREM2/DAP12 in brain cell biology". By staining human and mouse cerebral cortex, the authors found it "strongly expressed by microglia" — the brain's immune cells — and "present in a fraction of neurons but not in astrocytes and oligodendrocytes", with TREM2-carrying neurons "rare" in the hippocampus.
Taken from this record’s own fields, not from reading the paper. The grade is assigned from the abstract’s wording; what that means.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Sessa, G., Podini, P., Mariani, M., Meroni, A., Spreafico, R., Sinigaglia, F., et al. (2004). Distribution and signaling of TREM2/DAP12, the receptor system mutated in human polycystic lipomembraneous osteodysplasia with sclerosing leukoencephalopathy dementia. The European journal of neuroscience. https://doi.org/10.1111/j.1460-9568.2004.03729.x
Vancouver
Sessa G, Podini P, Mariani M, Meroni A, Spreafico R, Sinigaglia F, et al. Distribution and signaling of TREM2/DAP12, the receptor system mutated in human polycystic lipomembraneous osteodysplasia with sclerosing leukoencephalopathy dementia. The European journal of neuroscience. 2004. doi:10.1111/j.1460-9568.2004.03729.x. PMID: 15548205.
BibTeX
@article{sessa2004-15548205,
author = {Sessa, G. and Podini, P. and Mariani, M. and Meroni, A. and Spreafico, R. and Sinigaglia, F. and Colonna, M. and Panina, P. and others},
title = {{Distribution and signaling of TREM2/DAP12, the receptor system mutated in human polycystic lipomembraneous osteodysplasia with sclerosing leukoencephalopathy dementia}},
journal = {The European journal of neuroscience},
year = {2004},
doi = {10.1111/j.1460-9568.2004.03729.x},
pmid = {15548205},
url = {https://doi.org/10.1111/j.1460-9568.2004.03729.x}
}
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
- In humans, however, loss-of-function mutations of TREM2/DAP12 leave myeloid cells unaffected but induce an autosomal recessive disease characterized, together with bone cysts, by a spectrum of pathological lesions in the cortex, thalamus and basal ganglia with clinical symptoms of progressive dementia (polycystic lipomembraneous osteodysplasia with sclerosing leukoencephalopathy).
- Nothing was known about the role of TREM2/DAP12 in brain cell biology and physiology.
- By confocal immunocytochemistry we demonstrate that, in both human and mouse cerebral cortex, TREM2/DAP12, strongly expressed by microglia, is also present in a fraction of neurons but not in astrocytes and oligodendrocytes.
- In contrast, in the hippocampal cortex TREM2-expressing neurons are rare.
Why it matters
Mutations in TREM2/DAP12 cause a rare inherited disease with bone cysts and "progressive dementia"; when this 2004 study was done, "nothing was known about the role of TREM2/DAP12 in brain cell biology". By staining human and mouse cerebral cortex, the authors found it "strongly expressed by microglia" — the brain's immune cells — and "present in a fraction of neurons but not in astrocytes and oligodendrocytes", with TREM2-carrying neurons "rare" in the hippocampus. It is a tissue-mapping study, not an Alzheimer's study: it gives no numbers and tests no treatment.
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 randomized / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (The European journal of neuroscience) |
| Journal's citation record | 3 / 4 | European Journal of Neuroscience: journal h-index 277 (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 | 1 / 5 | 2004 — older than 20 years, still counted |
| 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) |
| Randomized / blinded | 0 / 2 | No randomization or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 5 / 7 | Cited 164 times (OpenAlex, 2026-10-10) |
| Citations per year | 2 / 5 | 6.8 citations a year over 24 year(s) since 2004 |
| Impact for its field and year | 2 / 6 | Cited 1.9× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 4 / 6 | Cited by 48 other studies in this library |
| Still being cited | 2 / 4 | Cited 18 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Jacopo Meldolesi: h-index 87 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | Washington University in St. Louis: institution h-index 1,962 (OpenAlex) |
| Multicenter collaboration | 1 / 3 | OpenAlex lists 3 institution(s) in 2 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 15548205) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 45 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1111/j.1460-9568.2004.03729.x
- PubMed: 15548205
- Original source →
- Free full text: European Journal of Neuroscience →
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
Related
Studies in the library that share something with this one. The line above each title says what.
Studies this one cites
Referenced by this study and also in the alzhub library, so you can read them here.
Later studies that cite this one
48 studies in the alzhub library list this one in their references. Showing the 8 highest-scoring.
Related studies in TREM2 and immune genetics from nearby years
Also tagged “r47h”
363 studies in the library carry the topic tag “r47h”; these are this study's neighbours in a fixed, alphabetical-by-hash tour of them, not the closest in content. All 363 tagged studies.