Cargando…

Col6a1 Null Mice as a Model to Study Skin Phenotypes in Patients with Collagen VI Related Myopathies: Expression of Classical and Novel Collagen VI Variants during Wound Healing

Patients suffering from collagen VI related myopathies caused by mutations in COL6A1, COL6A2 and COL6A3 often also display skin abnormalities, like formation of keloids or “cigarette paper” scars, dry skin, striae rubrae and keratosis pilaris (follicular keratosis). Here we evaluated if Col6a1 null...

Descripción completa

Detalles Bibliográficos
Autores principales: Lettmann, Sandra, Bloch, Wilhelm, Maaß, Tobias, Niehoff, Anja, Schulz, Jan-Niklas, Eckes, Beate, Eming, Sabine A., Bonaldo, Paolo, Paulsson, Mats, Wagener, Raimund
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4144880/
https://www.ncbi.nlm.nih.gov/pubmed/25158062
http://dx.doi.org/10.1371/journal.pone.0105686
_version_ 1782332090510999552
author Lettmann, Sandra
Bloch, Wilhelm
Maaß, Tobias
Niehoff, Anja
Schulz, Jan-Niklas
Eckes, Beate
Eming, Sabine A.
Bonaldo, Paolo
Paulsson, Mats
Wagener, Raimund
author_facet Lettmann, Sandra
Bloch, Wilhelm
Maaß, Tobias
Niehoff, Anja
Schulz, Jan-Niklas
Eckes, Beate
Eming, Sabine A.
Bonaldo, Paolo
Paulsson, Mats
Wagener, Raimund
author_sort Lettmann, Sandra
collection PubMed
description Patients suffering from collagen VI related myopathies caused by mutations in COL6A1, COL6A2 and COL6A3 often also display skin abnormalities, like formation of keloids or “cigarette paper” scars, dry skin, striae rubrae and keratosis pilaris (follicular keratosis). Here we evaluated if Col6a1 null mice, an established animal model for the muscle changes in collagen VI related myopathies, are also suitable for the study of mechanisms leading to the skin pathology. We performed a comprehensive study of the expression of all six collagen VI chains in unwounded and challenged skin of wild type and Col6a1 null mice. Expression of collagen VI chains is regulated in both skin wounds and bleomycin-induced fibrosis and the collagen VI α3 chain is proteolytically processed in both wild type and Col6a1 null mice. Interestingly, we detected a decreased tensile strength of the skin and an altered collagen fibril and basement membrane architecture in Col6a1 null mice, the latter being features that are also found in collagen VI myopathy patients. Although Col6a1 null mice do not display an overt wound healing defect, these mice are a relevant animal model to study the skin pathology in collagen VI related disease.
format Online
Article
Text
id pubmed-4144880
institution National Center for Biotechnology Information
language English
publishDate 2014
publisher Public Library of Science
record_format MEDLINE/PubMed
spelling pubmed-41448802014-08-29 Col6a1 Null Mice as a Model to Study Skin Phenotypes in Patients with Collagen VI Related Myopathies: Expression of Classical and Novel Collagen VI Variants during Wound Healing Lettmann, Sandra Bloch, Wilhelm Maaß, Tobias Niehoff, Anja Schulz, Jan-Niklas Eckes, Beate Eming, Sabine A. Bonaldo, Paolo Paulsson, Mats Wagener, Raimund PLoS One Research Article Patients suffering from collagen VI related myopathies caused by mutations in COL6A1, COL6A2 and COL6A3 often also display skin abnormalities, like formation of keloids or “cigarette paper” scars, dry skin, striae rubrae and keratosis pilaris (follicular keratosis). Here we evaluated if Col6a1 null mice, an established animal model for the muscle changes in collagen VI related myopathies, are also suitable for the study of mechanisms leading to the skin pathology. We performed a comprehensive study of the expression of all six collagen VI chains in unwounded and challenged skin of wild type and Col6a1 null mice. Expression of collagen VI chains is regulated in both skin wounds and bleomycin-induced fibrosis and the collagen VI α3 chain is proteolytically processed in both wild type and Col6a1 null mice. Interestingly, we detected a decreased tensile strength of the skin and an altered collagen fibril and basement membrane architecture in Col6a1 null mice, the latter being features that are also found in collagen VI myopathy patients. Although Col6a1 null mice do not display an overt wound healing defect, these mice are a relevant animal model to study the skin pathology in collagen VI related disease. Public Library of Science 2014-08-26 /pmc/articles/PMC4144880/ /pubmed/25158062 http://dx.doi.org/10.1371/journal.pone.0105686 Text en © 2014 Lettmann et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
Lettmann, Sandra
Bloch, Wilhelm
Maaß, Tobias
Niehoff, Anja
Schulz, Jan-Niklas
Eckes, Beate
Eming, Sabine A.
Bonaldo, Paolo
Paulsson, Mats
Wagener, Raimund
Col6a1 Null Mice as a Model to Study Skin Phenotypes in Patients with Collagen VI Related Myopathies: Expression of Classical and Novel Collagen VI Variants during Wound Healing
title Col6a1 Null Mice as a Model to Study Skin Phenotypes in Patients with Collagen VI Related Myopathies: Expression of Classical and Novel Collagen VI Variants during Wound Healing
title_full Col6a1 Null Mice as a Model to Study Skin Phenotypes in Patients with Collagen VI Related Myopathies: Expression of Classical and Novel Collagen VI Variants during Wound Healing
title_fullStr Col6a1 Null Mice as a Model to Study Skin Phenotypes in Patients with Collagen VI Related Myopathies: Expression of Classical and Novel Collagen VI Variants during Wound Healing
title_full_unstemmed Col6a1 Null Mice as a Model to Study Skin Phenotypes in Patients with Collagen VI Related Myopathies: Expression of Classical and Novel Collagen VI Variants during Wound Healing
title_short Col6a1 Null Mice as a Model to Study Skin Phenotypes in Patients with Collagen VI Related Myopathies: Expression of Classical and Novel Collagen VI Variants during Wound Healing
title_sort col6a1 null mice as a model to study skin phenotypes in patients with collagen vi related myopathies: expression of classical and novel collagen vi variants during wound healing
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4144880/
https://www.ncbi.nlm.nih.gov/pubmed/25158062
http://dx.doi.org/10.1371/journal.pone.0105686
work_keys_str_mv AT lettmannsandra col6a1nullmiceasamodeltostudyskinphenotypesinpatientswithcollagenvirelatedmyopathiesexpressionofclassicalandnovelcollagenvivariantsduringwoundhealing
AT blochwilhelm col6a1nullmiceasamodeltostudyskinphenotypesinpatientswithcollagenvirelatedmyopathiesexpressionofclassicalandnovelcollagenvivariantsduringwoundhealing
AT maaßtobias col6a1nullmiceasamodeltostudyskinphenotypesinpatientswithcollagenvirelatedmyopathiesexpressionofclassicalandnovelcollagenvivariantsduringwoundhealing
AT niehoffanja col6a1nullmiceasamodeltostudyskinphenotypesinpatientswithcollagenvirelatedmyopathiesexpressionofclassicalandnovelcollagenvivariantsduringwoundhealing
AT schulzjanniklas col6a1nullmiceasamodeltostudyskinphenotypesinpatientswithcollagenvirelatedmyopathiesexpressionofclassicalandnovelcollagenvivariantsduringwoundhealing
AT eckesbeate col6a1nullmiceasamodeltostudyskinphenotypesinpatientswithcollagenvirelatedmyopathiesexpressionofclassicalandnovelcollagenvivariantsduringwoundhealing
AT emingsabinea col6a1nullmiceasamodeltostudyskinphenotypesinpatientswithcollagenvirelatedmyopathiesexpressionofclassicalandnovelcollagenvivariantsduringwoundhealing
AT bonaldopaolo col6a1nullmiceasamodeltostudyskinphenotypesinpatientswithcollagenvirelatedmyopathiesexpressionofclassicalandnovelcollagenvivariantsduringwoundhealing
AT paulssonmats col6a1nullmiceasamodeltostudyskinphenotypesinpatientswithcollagenvirelatedmyopathiesexpressionofclassicalandnovelcollagenvivariantsduringwoundhealing
AT wagenerraimund col6a1nullmiceasamodeltostudyskinphenotypesinpatientswithcollagenvirelatedmyopathiesexpressionofclassicalandnovelcollagenvivariantsduringwoundhealing