Human pluripotent stem cell model of multiple epiphyseal dysplasia with MATN3 mutation identifies altered Matrix organisation and upregulation of the cholesterol biosynthesis pathway

Steven Woods; Nicola Bates; Stuart A. Cain; Paul A. Humphreys; Fabrizio E Mancini; Brenda Aguero Burgos; Peter Harley; Rayed Ali A. Alqahtani; Witchayapon Kamprom; Aleksandr Mironov; Antony Adamson; Ian J. Donaldson; Geert Mortier; K. S. Chandler; Anna Nicolaou; Clair Baldock; Jean-Marc Schwartz; Susan J Kimber

doi:10.1016/j.joca.2026.01.633

Key Points

The aim is to investigate the molecular mechanisms of multiple epiphyseal dysplasia (MED) caused by the MATN3 mutation.
Developed a human pluripotent stem cell model for MED
Analyzed the impact of mutant matrilin-3 on matrix organization
Assessed changes in cholesterol biosynthesis pathway
Identified abnormal matrix assembly due to MATN3 mutation
Reported increased activity in the cholesterol biosynthesis pathway
Highlighted potential therapeutic targets for MED

Implication

Model reveals altered matrix assembly and upregulation of cholesterol biosynthesis in MED, highlighting potential therapies.

Abstract

Our model revealed mutant matrilin-3 induces cholesterol biosynthesis pathway upregulation and abnormal matrix assembly during MED pathogenesis. This study provides new insights into the molecular mechanisms underlying MED and highlights potential therapeutic targets.

Discussion

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Cite This Study

Woods et al. (2026) studied this question.

synapsesocial.com/papers/698978dff0ec2af6756e7211 https://doi.org/10.1016/j.joca.2026.01.633

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Human pluripotent stem cell model of multiple epiphyseal dysplasia with MATN3 mutation identifies altered Matrix organisation and upregulation of the cholesterol biosynthesis pathway

Key Points

Implication

Abstract

Discussion

Cite This Study

Human pluripotent stem cell model of multiple epiphyseal dysplasia with MATN3 mutation identifies altered Matrix organisation and upregulation of the cholesterol biosynthesis pathway

Key Points

Implication

Abstract

Discussion

Cite This Study

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