title: Transcriptome and ultrastructural changes in dystrophic Epidermolysis bullosa resemble skin aging.
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.
authors.affiliation: Department of Dermatology and EB House Austria, Paracelsus Medical University, Salzburg, Austria.
authors.forename: Jenny S
authors.initials: JS
authors.lastname: Breitenbach
authors.affiliation: Fachbereich Zellbiologie der Universität Salzburg, Salzburg, Austria.
authors.forename: Mark
authors.initials: M
authors.lastname: Rinnerthaler
authors.affiliation: University Clinic of Ophthalmology and Optometry, Research Program for Ophthalmology and Glaucoma Research, Paracelsus Medical University, Salzburg, Austria.
authors.forename: Andrea
authors.initials: A
authors.lastname: Trost
authors.affiliation: Fachbereich Zellbiologie der Universität Salzburg, Salzburg, Austria.
authors.forename: Manuela
authors.initials: M
authors.lastname: Weber
authors.affiliation: Department of Dermatology and EB House Austria, Paracelsus Medical University, Salzburg, Austria.
authors.forename: Alfred
authors.initials: A
authors.lastname: Klausegger
authors.affiliation: Department of Dermatology and EB House Austria, Paracelsus Medical University, Salzburg, Austria.
authors.forename: Christina
authors.initials: C
authors.lastname: Gruber
authors.affiliation: University Clinic of Ophthalmology and Optometry, Research Program for Ophthalmology and Glaucoma Research, Paracelsus Medical University, Salzburg, Austria.
authors.forename: Daniela
authors.initials: D
authors.lastname: Bruckner
authors.affiliation: University Clinic of Ophthalmology and Optometry, Research Program for Ophthalmology and Glaucoma Research, Paracelsus Medical University, Salzburg, Austria.
authors.forename: Herbert A
authors.initials: HA
authors.lastname: Reitsamer
authors.affiliation: Department of Dermatology and EB House Austria, Paracelsus Medical University, Salzburg, Austria.
authors.forename: Johann W
authors.initials: JW
authors.lastname: Bauer
authors.affiliation: Fachbereich Zellbiologie der Universität Salzburg, Salzburg, Austria.
authors.forename: Michael
authors.initials: M
authors.lastname: Breitenbach
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000375:Aging / Q000502:physiology*; D004820:Epidermolysis Bullosa / Q000473:pathology*; D005260:Female; D005786:Gene Expression Regulation / Q000502:physiology; D006801:Humans; D008297:Male; D008875:Middle Aged; D012867:Skin / Q000473:pathology / Q000648:ultrastructure*; D012879:Skin Physiological Phenomena; D059467:Transcriptome / Q000502:physiology*
keywords: bullous skin disease; collagen; immune fluorescence microscopy; keratin; loricrin; microarray analysis of skin aging