Evidence map›Paper›PMID 42381071›Full record

ArticleOrphanet journal of rare diseases2026

Mitochondrial stress markers associate with phenotypic variability in Fabry disease.

Lucia Lavalle, Hibba Kurdi, David Moreno Martinez, Vincent Muczynski, Simon Heales, Derralynn Hughes

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PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Fabry Disease: A Focus on the Role of Oxidative Stress.Antioxidants (Basel, Switzerland) · 2026
    Review
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

6 authors.

Lucia LavalleCancer Institute, University College London, London, UK.
Hibba KurdiLysosomal Storage Disorders Unit, Royal Free London NHS Foundation Trust, London, UK.
David Moreno MartinezCancer Institute, University College London, London, UK.
Vincent MuczynskiCancer Institute, University College London, London, UK.
Simon HealesNeurometabolic Unit, National Hospital, Queen Square & UCL Great Ormond Street Institute of Child Health, London, UK.
Derralynn HughesCancer Institute, University College London, London, UK. derralynnhughes@nhs.net.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundFabry disease (FD) exhibits marked clinical heterogeneity that cannot be fully explained by residual α-galactosidase A activity. Mitochondrial dysfunction has been reported in FD, but the role of mitochondrial stress remains unexplored.

objectiveTo investigate whether mitochondrial unfolded protein response (mtUPR) related markers associate with phenotypic variability and correlates with disease severity.

methodsWe measured intracellular heat-shock protein 60 (Hsp60) expression by western blotting in fibroblasts and peripheral blood mononuclear cells (PBMCs). In the clinical cohort, intracellular Hsp60 was measured in PBMC whole-cell lysates from 27 FD patients (14 males, 13 females). Serum fibroblast growth-factor-21 and growth differentiation-factor-15 were measured in 35 patients. Clinical outcomes included Mainz Severity Score Index, Age-Adjusting Severity Score, estimated glomerular filtration rate, and left-ventricular mass index (LVMI).

resultsHsp60 showed variability, with sex-specific associations. In males, higher Hsp60 correlated with lower LVMI (r

conclusionsmtUPR related markers exhibit sex- and genotype-specific patterns associated with disease severity, suggesting that mitochondrial stress contributes to phenotypic heterogeneity and support further longitudinal evaluation of Hsp60, FGF-21 and GDF-15 as candidate biomarkers of disease burden and treatment response.

Indexed as

Fabry DiseaseMitochondriaAdultBiomarkersChaperonin 60FemaleFibroblast Growth FactorsGrowth Differentiation Factor 15HumansLeukocytes, MononuclearMaleMiddle AgedPhenotypeUnfolded Protein ResponseBiomarkersChaperonin 60FGF21 protein, humanfibroblast growth factor 21Fibroblast Growth FactorsGDF15 protein, humanGrowth Differentiation Factor 15Fabry diseaseHsp60Mitochondrial unfolded protein responseMitokines (FGF-21, GDF-15)Phenotypic heterogeneity

Identifiers

PMID42381071
PMCPMC13587467

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Registered trials

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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.