Epidermolysis bullosa: a mouse model of the generalised non-Herlitz junctional form

Monday 23 August 2010

Epidermolysis bullosa (EB) is a class of intractable, rare, genetic disorders characterised by fragile skin and blister formation as a result of dermal-epidermal mechanical instability. EB presents with considerable clinical and molecular heterogeneity. The authors identified a spontaneous, autosomal recessive mutation (Lamc2(jeb)) due to a murine leukaemia virus long terminal repeat insertion in Lamc2 (laminin gamma2 gene) that results in a hypomorphic allele with reduced levels of LAMC2 protein. These mutant mice develop a progressive blistering disease validated at the gross and microscopic levels to closely resemble generalised non-Herlitz JEB. The Lamc2(jeb) mice display additional extracutaneous features such as loss of bone mineralisation and abnormal teeth, as well as a respiratory phenotype that is recognised but not as well characterised in humans. This model faithfully recapitulates human JEB and provides an important preclinical tool to test therapeutic approaches.
Read the PubMed abstract

J Invest Dermatol ; 1819-1828 ; July 2010

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