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The behaviour of Bcl-2, Bax and Bcl-x in Darier's disease
1Department of Dermatology, University of Palermo, Via del Vespro 131, Italy. istderm@unipa.it
Background:
Darier's disease (DD) is a rare autosomal dominant disorder of keratinization caused by a mutation of the ATP2A2 gene. There is little information on the behaviour of Bcl-2, Bax and Bcl-x in DD.
Objectives:
To investigate the dynamic control and the behaviour of Bax, Bcl-2 and Bcl-x in DD. We asked whether members of the Bcl-2 family might manifest their effects through modulation of intracellular calcium signalling or whether the gene that encodes the sarco/endoplasmic reticulum Ca2+ ATPase isoform 2 (SERCA2) modulates the Bcl-2 family in the regulation of apoptosis in DD. Methods Immunohistochemical methods were used.
Results:
There was no immunoreactivity for Bcl-2 and Bcl-x in epidermal keratinocytes in lesional epidermis. Staining for Bax was evident in the cells of the perilesional uninvolved skin, but decreased in the epidermal cells of lesional involved skin.
Conclusions:
The decrease or absence of Bcl-2 and Bcl-x and the imbalance of Bax in the epithelial cells of affected DD skin is likely to be an important control point determined by the genetic mutation of SERCA2, which modifies the programme of the antiapoptotic proteins. The consequent imbalance of the factors controlling apoptosis in keratinocytes underlines another apoptotic pathway responsible for the dyskeratotic cells in DD.