MétaCan
Menu
Back to cohort
Record W4414681896 · doi:10.1172/jci195267

Altered immune and metabolic molecular pathways drive islet cell dysfunction in human type 1 diabetes

2025· article· en· W4414681896 on OpenAlexafffund
Theodore dos Santos, Xiao-Qing Dai, Robert C. Jones, Aliya F Spigelman, Hannah M Mummey, Jessica Ewald, Cara E. Ellis, James Lyon, Nancy Smith, Austin Bautista, Jocelyn E. Manning Fox, Norma Neff, Angela M. Detweiler, Michelle Tan, Rafael Arrojo e Drigo, Jianguo Xia, Joan Camuñas-Soler, Kyle J. Gaulton, Stephen R. Quake, Patrick E. MacDonald

Bibliographic record

VenueJournal of Clinical Investigation · 2025
Typearticle
Languageen
FieldMedicine
TopicPancreatic function and diabetes
Canadian institutionsMcGill UniversityUniversity of Alberta
FundersCanadian Institutes of Health ResearchNational Human Genome Research InstituteUniversity of California, San DiegoVetenskapsrådetNational Institutes of HealthNational Institute of Diabetes and Digestive and Kidney DiseasesAlberta InnovatesKnut och Alice Wallenbergs StiftelseHuman Islet Research Network
KeywordsIsletImmune systemTranscriptomeDownregulation and upregulationmTORC1PhenotypeCell typeLysosomeMajor histocompatibility complexCell

Abstract

fetched live from OpenAlex

Type 1 diabetes (T1D) is characterized by the autoimmune destruction of most insulin-producing β cells, along with dysregulated glucagon secretion from pancreatic α cells. We conducted an integrated analysis that combines electrophysiological and transcriptomic profiling, along with machine learning, of islet cells from T1D donors. The few surviving β cells exhibit altered electrophysiological properties and transcriptomic signatures indicative of increased antigen presentation, metabolic reprogramming, and impaired protein translation. In α cells, we observed hyperresponsiveness and increased exocytosis, which are associated with upregulated immune signaling, disrupted transcription factor localization, and lysosome homeostasis, as well as dysregulation of mTORC1 complex signaling. Notably, key genetic risk signals for T1D were enriched in transcripts related to α cell dysfunction, including MHC class I, which were closely linked with α cell dysfunction. Our data provide what we believe are novel insights into the molecular underpinnings of islet cell dysfunction in T1D, highlighting pathways that may be leveraged to preserve residual β cell function and modulate α cell activity. These findings underscore the complex interplay between immune signaling, metabolic stress, and cellular identity in shaping islet cell phenotypes in T1D.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.001
Threshold uncertainty score0.004

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.001
Science and technology studies0.0000.000
Scholarly communication0.0010.000
Open science0.0000.000
Research integrity0.0000.001
Insufficient payload (model declined to judge)0.0010.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.042
GPT teacher head0.332
Teacher spread0.290 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations6
Published2025
Admission routes2
Has abstractyes

Explore more

Same venueJournal of Clinical InvestigationSame topicPancreatic function and diabetesFrench-language works237,207