Data · dataset · 2026
Sonalani Shandil: Microglial phenotypes in Amyotrophic Lateral Sclerosis linked to C9orf72, SOD1, or UBQLN2 genetic variants
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Description
Background
ALS incidence in Aotearoa is among the highest globally. While ALS involves neuronal degeneration, microglia are recognised disease propagators, though whether different ALS-causing variants converge on a shared neuroinflammatory pathway or drive distinct microglial phenotypes remains unknown.Objectives: To determine how three ALS-causing variants alter homeostasis and inflammatory responses in iPSC-derived microglia.Methods: iPSC-microglia carrying C9orf72 HRE, SOD1A4V, or UBQLN2P506T variants (n=1 line/genotype), or isogenic controls, were stimulated with LPS/IFNγ (100 ng/mL) for 8 or 24 h.
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Immunofluorescence imaging quantified immunophenotype markers.Results: SOD1A4V microglia matched control immunophenotype, showing expected activation/chemokine marker upregulation. C9orf72 HRE microglia appeared constitutively primed, with elevated baseline C1q, IL-6, and delayed chemokine upregulation. UBQLN2P506T microglia initially responded but showed progressive loss of inflammatory signaling, with IL-6 and HLA-DR declining by 8 h and markedly reduced by 24 h.Discussion: ALS-associated microglial dysfunction appears genotype-dependent, with SOD1A4V retaining near-normal reactivity while C9orf72 HRE microglia show distinct, mutation-specific aberrant phenotypes.</p>
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Where it is published
- DOI doi.org/10.17608/k6.auckland.33946156.v2 ↗
DOI / persistent id · from zivahub uct ac za
Catalogue records · 1
- OAI-PMH record api.figshare.com/v2/oai?verb=GetRecord&metadataPrefix=oai_dc&identifier=oai%3Af… ↗
metadata API · from zivahub uct ac za
Topics
Provenance · 1 source records, 11 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| ZivaHub | oai:figshare.com:article/33946156 | 9 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
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| concepts[field].anzsrc:field:320905 | mapping · zivahub uct ac za | vocabulary-mapper@1.0.0 | keywords['Neurology and neuromuscular diseases'] |
| concepts[field].local:field:earth-environmental | mapping · zivahub uct ac za | connector:zivahub_uct_ac_za@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · zivahub uct ac za | connector:zivahub_uct_ac_za@1.0.0 | |
| concepts[field].local:field:medicine-health | mapping · zivahub uct ac za | connector:zivahub_uct_ac_za@1.0.0 | |
| concepts[modality].local:modality:imaging | enrichment · zivahub uct ac za | keyword-concept-rules@1.0.0 | title+description (75%) |
| description | source · zivahub uct ac za | connector:zivahub_uct_ac_za@1.0.0 | /metadata/dc/description |
| license | source · zivahub uct ac za | connector:zivahub_uct_ac_za@1.0.0 | /metadata/dc/rights |
| publication_date | source · zivahub uct ac za | connector:zivahub_uct_ac_za@1.0.0 | |
| title | source · zivahub uct ac za | connector:zivahub_uct_ac_za@1.0.0 | /metadata/dc/title |