Collablots: Quantification of Collagen VI Levels and Its Structural Disorganisation in Cell Cultures From Patients With Collagen VI-Related Dystrophies


Por: Osegui-Barcenilla N, Sendino M, Martín-González S, González-Moro I, Benito-Agustino A, Torres-Conde N, López-Martínez A, Jimenez-Mallebrera C, López-Marquez A and Arechavala-Gomeza V

Publicada: 22 may 2025
Resumen:
AimsThis study aims to develop a quantitative method for assessing collagen VI expression in cell cultures, which is crucial for the diagnosis and treatment of collagen VI-related dystrophies.MethodsWe developed a combined in-cell western (ICW) and on-cell western (OCW) assay, which we have called 'collablot', to quantify collagen VI and its organisation in the extracellular matrix of cell cultures from patients and healthy controls. To optimise it, we optimised cell density and the protocols to induce collagen expression in cultures, as well as the cell fixation and permeabilisation methods. This was completed with a thorough selection of collagen antibodies and a collagen-hybridising peptide (CHP). We then used collablots to compare cultures from patients and controls and evaluate therapeutic interventions in the cultures.ResultsCollablots enabled the quantification of collagen VI expression in both control and patient cells, aligning with immunocytochemistry findings and detecting variations in collagen VI expression following treatment of the cultures. Additionally, CHP analysis revealed a marked increase in collagen network disruption in patients compared to the controls.ConclusionsThe collablot assay represents a suitable method for quantifying collagen VI expression and its organisation in culture and assessing the effect of therapies.

Filiaciones:
Osegui-Barcenilla N:
 Nucleic Acid Therapeutics for Rare Disorders (NAT-RD), Biobizkaia Health Research Institute, Barakaldo, Spain

Sendino M:
 Nucleic Acid Therapeutics for Rare Disorders (NAT-RD), Biobizkaia Health Research Institute, Barakaldo, Spain

Martín-González S:
 Nucleic Acid Therapeutics for Rare Disorders (NAT-RD), Biobizkaia Health Research Institute, Barakaldo, Spain

González-Moro I:
 Nucleic Acid Therapeutics for Rare Disorders (NAT-RD), Biobizkaia Health Research Institute, Barakaldo, Spain

Benito-Agustino A:
 Nucleic Acid Therapeutics for Rare Disorders (NAT-RD), Biobizkaia Health Research Institute, Barakaldo, Spain

Torres-Conde N:
 Nucleic Acid Therapeutics for Rare Disorders (NAT-RD), Biobizkaia Health Research Institute, Barakaldo, Spain

López-Martínez A:
 Nucleic Acid Therapeutics for Rare Disorders (NAT-RD), Biobizkaia Health Research Institute, Barakaldo, Spain

Jimenez-Mallebrera C:
 Laboratory of Applied Research in Neuromuscular Diseases, Neuromuscular Pathology Unit, Neuropediatric Service, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Spain

 Rare Diseases Network Biomedical Research Center (CIBERER), Madrid, Spain

López-Marquez A:
 Laboratory of Applied Research in Neuromuscular Diseases, Neuromuscular Pathology Unit, Neuropediatric Service, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Spain

 Rare Diseases Network Biomedical Research Center (CIBERER), Madrid, Spain

 Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, Barcelona, Spain

Arechavala-Gomeza V:
 Nucleic Acid Therapeutics for Rare Disorders (NAT-RD), Biobizkaia Health Research Institute, Barakaldo, Spain

 Ikerbasque, Basque Foundation for Science, Bilbao, Spain

Biobizkaia Hlth Res Inst, Nucl Acid Therapeut Rare Disorders NAT RD,
Baracaldo, Spain
Inst Recerca St Joan de Deu, Neuropediat Serv, Neuromuscular Pathol
Unit, Lab Appl Res Neuromuscular Dis, Esplugas de Llobregat, Spain
Rare Dis Network Biomed Res Ctr CIBERER, Madrid, Spain
Univ Barcelona, Fac Biol, Dept Genet Microbiol & Stat, Barcelona, Spain
Basque Fdn Sci, Ikerbasque, Bilbao, Spain
ISSN: 03051846





NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
Editorial
WILEY, 111 RIVER ST, HOBOKEN 07030-5774, NJ, Reino Unido
Tipo de documento: Article
Volumen: 51 Número: 3
Páginas:
WOS Id: 001492426600001
ID de PubMed: 40400418
imagen Green Submitted, hybrid

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