Home | 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
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
B2 WAGENER/ PAULSSONB7 EMINGpublicationsLettmann S, Bloch W, Maaß T, Niehoff A, Schulz JN, Eckes B, Eming SA, Bonaldo P, Paulsson M, Wagener R; PLoS One. 2014 Aug 26;9(8):e105686. doi: 10.1371/journal.pone.0105686. eCollection 2014.
Patients suffering from collagenVIrelatedmyopathies 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 Col6a1nullmice, an established animal model for the muscle changes in collagenVIrelatedmyopathies, are also suitable for the study of mechanisms leading to the skin pathology. We performed a comprehensive study of the expression of all six collagenVI chains in unwounded and challenged skin of wild type and Col6a1nullmice. Expression of collagenVI chains is regulated in both skin wounds and bleomycin-induced fibrosis and the collagenVI ?3 chain is proteolytically processed in both wild type and Col6a1nullmice. Interestingly, we detected a decreased tensile strength of the skin and an altered collagen fibril and basement membrane architecture in Col6a1nullmice, the latter being features that are also found in collagenVI myopathy patients. Although Col6a1nullmice do not display an overt wound healing defect, these mice are a relevant animal model to study the skin pathology in collagenVIrelated disease.