Evidence map›Paper›PMID 41093925›Full record

ArticleScientific reports2025

Evaluating the utility of growth differentiation factor 15 and fibroblast growth factor 21 as blood biomarkers for Rett syndrome.

Ashley Hertzog, Adviye Ayper Tolun, Alexander D Wykes, David Brown, Samuel N Breit, Carolyn Ellaway, Gladys Ho, Wendy Gold

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In one paragraph

Article in Scientific reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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

2 citing papers in PubMed.

  1. Article
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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

8 authors.

Ashley HertzogNSW Biochemical Genetics Service, The Children's Hospital at Westmead, Westmead, NSW, Australia.
Adviye Ayper TolunNSW Biochemical Genetics Service, The Children's Hospital at Westmead, Westmead, NSW, Australia.
Alexander D WykesThe School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.
David BrownCentre for Allergy and Immunology Research, NSW Health Pathology-Institute for Clinical Pathology and Medical Research, Westmead Institute for Medical Research, Westmead, NSW, Australia.
Samuel N BreitSt Vincent's Centre for Applied Medical Research, St Vincent's Hospital, University of New South Wales, Sydney, NSW, Australia.
Carolyn EllawayGenetic Metabolic Disorders Service, Sydney Children's Hospitals Network, Sydney, NSW, Australia.
Gladys HoDepartment of Molecular Genetics, Sydney Genome Diagnostics, The Children's Hospital at Westmead, Westmead, NSW, Australia.
Wendy GoldThe School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia. wendy.gold@sydney.edu.au.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Rett syndrome (RTT, OMIM #312750) is a severe genetic, neurodevelopmental disorder, primarily affecting females, that occurs due to pathogenic variants in MECP2. Clinical features include loss of acquired developmental milestones, such as purposeful hand movements and communicative abilities and the onset of stereotypic hand movements. Mitochondrial dysfunction/impairment, and inflammation have been reported in individuals with RTT. Despite numerous clinical trials and medications thought to be disease-modifying, treatment often remains purely symptomatic. A significant impediment in determining treatment efficacy has been the lack of clinical biomarkers that correlate with disease state. Mitokines, such as fibroblast growth factor 21 (FGF21) and growth differentiation factor 15 (GDF15), have been established as biomarkers of cellular stress and mitochondrial dysfunction that may be of clinical utility for patients with RTT. We aimed to determine the suitability of these mitokines as biomarkers for RTT where we analysed their expression levels in blood samples from individuals with RTT as well as fromthe Mecp2

Indexed as

BiomarkersFibroblast Growth FactorsGrowth Differentiation Factor 15Rett SyndromeAdolescentAdultAnimalsChildChild, PreschoolDisease Models, AnimalFemaleHumansMaleMethyl-CpG-Binding Protein 2MiceYoung AdultBiomarkersFGF21 protein, humanfibroblast growth factor 21Fibroblast Growth FactorsGDF15 protein, humanGrowth Differentiation Factor 15MECP2 protein, humanMethyl-CpG-Binding Protein 2Blood-based biomarkersFibroblast growth factor 21 (FGF21)Growth differentiation factor 15 (GDF15)MitokinesRett syndrome

Identifiers

PMID41093925
PMCPMC12528506

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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.