Mitochondrial stress markers associate with phenotypic variability in Fabry disease.

doi:10.1186/s13023-026-04461-9

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Article

Mitochondrial stress markers associate with phenotypic variability in Fabry disease.

Orphanet journal of rare diseases - 30 Jun 2026

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

Abstract excerpt

BACKGROUND: Fabry 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. OBJECTIVE: To investigate whether mitochondrial unfolded protein response (mtUPR) related markers associate with phenotypic variability and correlates with disease...

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Topics

Humans
Fabry Disease
Female
Male
Chaperonin 60
Mitochondria
Middle Aged

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Biomarkers

Fibroblast Growth Factors

Adult

Growth Differentiation Factor 15

Phenotype

Leukocytes, Mononuclear

Unfolded Protein Response

Source

Open in PubMed Open full text

Identifiers

PMID: 42381071
DOI: 10.1186/s13023-026-04461-9
PMCID: PMC13587467

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