Evidence map›Paper›PMID 41726773›Full record

ArticleClinical & translational immunology2026

Gut metabolites identified in cerebrospinal fluid of genetic interferonopathy support gut-brain endothelial dysfunction.

Russell C Dale, Madysen Elbourne, Markus J Hofer, Shrujna Patel, Shekeeb Mohammad, Velda X Han, Josephine Yu, Shanlin Fu, Arlene D'Silva, Michelle A Farrar and 2 more

Abstract read
In one paragraph

Article in Clinical & translational immunology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Russell C DaleFaculty of Medicine and Health, Clinical School, The Children's Hospital at Westmead University of Sydney Sydney NSW Australia.
Madysen ElbourneFaculty of Science, School of Mathematical and Physical Sciences University of Technology Sydney Ultimo NSW Australia.
Markus J HoferFaculty of Science, School of Life and Environmental Sciences, Charles Perkins Centre The University of Sydney Sydney NSW Australia.ORCID https://orcid.org/0000-0001-5111-3978
Shrujna PatelFaculty of Medicine and Health, Clinical School, The Children's Hospital at Westmead University of Sydney Sydney NSW Australia.
Shekeeb MohammadFaculty of Medicine and Health, Clinical School, The Children's Hospital at Westmead University of Sydney Sydney NSW Australia.ORCID https://orcid.org/0000-0003-1219-4781
Velda X HanKids Neuroscience Centre, Faculty of Medicine and Health, The Children's Hospital at Westmead University of Sydney Sydney NSW Australia.
Josephine YuGeorge Institute University of New South Wales Sydney NSW Australia.
Shanlin FuFaculty of Science, School of Mathematical and Physical Sciences University of Technology Sydney Ultimo NSW Australia.
Arlene D'SilvaDepartment of Neurology The Sydney Children's Hospitals Network Sydney NSW Australia.
Michelle A FarrarDepartment of Neurology The Sydney Children's Hospitals Network Sydney NSW Australia.
Sushil BandodkarFaculty of Medicine and Health, Clinical School, The Children's Hospital at Westmead University of Sydney Sydney NSW Australia.
Jingya J YanFaculty of Science, School of Mathematical and Physical Sciences University of Technology Sydney Ultimo NSW Australia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: Aicardi-Goutières syndrome (AGS) is a rare genetic interferonopathy because of aberrant DNA or RNA metabolism with secondary host anti-viral (interferon) activation. This metabolomics study aimed to improve the biological understanding of AGS and explore potential biomarkers. Methods: We performed untargeted cerebrospinal fluid (CSF) metabolomics using a UPLC-Q-Exactive-HFx Mass Spectrometry of 10 genetically confirmed AGS patients (8 males, mean 4.8 years, range 0.2-16.5) and age-sex matched controls. Metabolites were then quantified and validated using UHPLC-QqQ-MS/MS in CSF and serum. Results: We identified expected elevated inflammatory metabolites (neopterin and kynurenine) and unexpected elevated gut microbe metabolites in CSF samples: Indole, p-Cresol, γ-Butyrobetaine and N-Butyryl-L-homoserine lactone (all Conclusion: Our findings suggest gut microbe metabolite leakage traversing the gut-blood-brain barrier in AGS, potentially because of endothelial dysfunction.

Indexed as

autoinflammatory diseasescerebrospinal fluidgut–brain axisinflammationmetabolomicsserum

Identifiers

PMID41726773
PMCPMC12920058

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.