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. 2015 Jun;7(6):389-411.
doi: 10.18632/aging.100755.

Transcriptome and ultrastructural changes in dystrophic Epidermolysis bullosa resemble skin aging

Jenny S Breitenbach  1 , Mark Rinnerthaler  2 , Andrea Trost  3 , Manuela Weber  2 , Alfred Klausegger  1 , Christina Gruber  1 , Daniela Bruckner  3 , Herbert A Reitsamer  3 , Johann W Bauer  1 , Michael Breitenbach  2
Affiliations

Transcriptome and ultrastructural changes in dystrophic Epidermolysis bullosa resemble skin aging

Jenny S Breitenbach et al. Aging (Albany NY). 2015 Jun.

Abstract

The aging process of skin has been investigated recently with respect to mitochondrial function and oxidative stress. We have here observed striking phenotypic and clinical similarity between skin aging and recessive dystrophic Epidermolysis bullosa (RDEB), which is caused by recessive mutations in the gene coding for collagen VII,COL7A1. Ultrastructural changes, defects in wound healing, and inflammation markers are in part shared with aged skin. We have here compared the skin transcriptomes of young adults suffering from RDEB with that of sex- and age-matched healthy probands. In parallel we have compared the skin transcriptome of healthy young adults with that of elderly healthy donors. Quite surprisingly, there was a large overlap of the two gene lists that concerned a limited number of functional protein families. Most prominent among the proteins found are a number of proteins of the cornified envelope or proteins mechanistically involved in cornification and other skin proteins. Further, the overlap list contains a large number of genes with a known role in inflammation. We are documenting some of the most prominent ultrastructural and protein changes by immunofluorescence analysis of skin sections from patients, old individuals, and healthy controls.

Keywords: bullous skin disease; collagen; immune fluorescence microscopy; keratin; loricrin; microarray analysis of skin aging.

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Conflict of interest statement

Conflict of interest statement

The authors have no conflict of interests to declare.

Figures

Figure 1
Figure 1
Venn diagram showing the overlap of the transcripts differentially expressed in skin aging (middle aged vs. elderly probands) and in RDEB (RDEB patients vs. age and sex-matched healthy controls). For further explanations see text.
Figure 2
Figure 2
Figure 3
Figure 3
Quantification of loricrin immunoreactivity by using a particle size measurement tool revealed the highest loricrin expression in the epidermis of the middle aged proband (27a). A significantly reduced loricrin expression was detected in the aged proband (84a) as well as in the RDEB patient's epidermis.
See this image and copyright information in PMC

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