Characterization of mutant type VII collagens underlying the inversa subtype of recessive dystrophic epidermolysis bullosa.

ABSTRACT:

Background

Patients with recessive dystrophic epidermolysis bullosa (RDEB) lack functional type VII collagen (C7) leading to skin fragility, bullae, and erosive wounds. RDEB-Inversa (RDEB-I), a subset of RDEB, is characterized by lesions localized to body areas with higher skin temperatures such as flexures and skin folds.

Objective

We aimed to determine if C7 derived from RDEB-I mutations had structural and functional aberrancies that were temperature sensitive and could be reversed by lowering the temperature.

Methods

In this study, we generated 12 substitution mutations associated with RDEB-I via site-directed mutagenesis and purified recombinant C7 protein. These C7 mutants were evaluated for structural parameters (trimer formation and protease sensitivity) and th

SUBMITTER: Woodley DT 

PROVIDER: S-EPMC8639788 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature