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White et al_postprint_2025.pdf (1.63 MB)

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Article

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Accepted version

Publication date

2025-03-12

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Please use this identifier to cite or link to this item: https://hdl.handle.net/2445/221267

Nanomechanics of cell-derived matrices as a functional read-out in collagen VI-related congenital muscular dystrophies

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https://doi.org/10.1098/rsif.2024.0860

Abstract

Changes in the mechanical properties of the extracellular matrix (ECM) are a hallmark of disease. Due to its relevance, several in vitro models have been developed for the ECM, including cell-derived matrices (CDMs). CDMs are decellularized natural ECMs assembled by cells that closely mimic the in vivo stromal fibre organization and molecular content. Here, we applied atomic force microscopy-force spectroscopy (AFM-FS) to evaluate the nanomechanical properties of CDMs obtained from patients diagnosed with collagen VI-related congenital muscular dystrophies (COL6-RDs). COL6-RDs are a set of neuromuscular conditions caused by pathogenic variants in any of the three major COL6 genes, which result in deficiency or dysfunction of the COL6 incorporated into the ECM of connective tissues. Current diagnosis includes the genetic confirmation of the disease and categorization of the phenotype based on maximum motor ability, as no direct correlation exists between genotype and phenotype of COL6-RDs. We describe differences in the elastic modulus (E) among CDMs from patients with different clinical phenotypes, as well as the restoration of E in CDMs obtained from genetically edited cells. Results anticipate the potential of the nanomechanical analysis of CDMs as a complementary clinical tool, providing phenotypic information about COL6-RDs and their response to gene therapies.

Subject

Distròfia muscular, Matriu extracel·lular, Cribratge genètic

Subject (English)

Muscular dystrophy, Extracellular matrix, Genetic screening

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Articles publicats en revistes (Enginyeria Electrònica i Biomèdica)
Articles publicats en revistes (Institut de Bioenginyeria de Catalunya (IBEC))

Citation

WHITE, Tom, et al. Nanomechanics of cell-derived matrices as a functional read-out in collagen VI-related congenital muscular dystrophies. Journal of The Royal Society Interface. 2025. Vol. 22, num. 224. ISSN 1742-5662. [consulted: 9 of August of 2026]. Available at: https://hdl.handle.net/2445/221267

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