Structural Defects of Laminin ß3 N-terminus Underlie Junctional Epidermolysis Bullosa with Altered Granulation Tissue Response.
Acta Derm Venereol
; 96(7): 954-958, 2016 11 02.
Article
em En
| MEDLINE
| ID: mdl-27120332
ABSTRACT
Mutations in the laminin-332 (α3Aß3γ2) genes cause junctional epidermolysis bullosa (JEB), a recessively inherited disease characterized by blistering and altered wound repair. In addition, specific mutations that affect the N-terminus of the α3A chain cause a JEB-related non-blistering condition characterized by chronic production of granulation tissue, suggesting a critical role of this region in epithelial-mesenchymal communication. We report here a 9-year-old patient with JEB with a few long-standing skin ulcers with prominent granulation tissue in the absence of active blistering. He bears a homozygous missense mutation, p.Gly254Asp, within the first laminin epidermal growth factor-like (LE) repeat of the ß3 short arm. We show that p.Gly254Asp causes mis-folding of the LE motif, leading to reduced secretion of laminin-332 and structural alterations of the cutaneous basement membrane zone. These findings demonstrate, in a patient in vivo, that the ß3 short arm is also involved in the outcome of the granulation tissue response.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Moléculas de Adesão Celular
/
Epidermólise Bolhosa Juncional
Limite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
Acta Derm Venereol
Ano de publicação:
2016
Tipo de documento:
Article