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Transcriptome and ultrastructural changes in dystrophic Epidermolysis bullosa resemble skin aging.

Breitenbach JS, Rinnerthaler M, Trost A, Weber M, Klausegger A, Gruber C, Bruckner D, Reitsamer HA, Bauer JW, Breitenbach M - Aging (Albany NY) (2015)

Bottom Line: In parallel we have compared the skin transcriptome of healthy young adults with that of elderly healthy donors.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.

View Article: PubMed Central - PubMed

Affiliation: Department of Dermatology and EB House Austria, Paracelsus Medical University, Salzburg, Austria.

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.

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Mentions: RDEB is caused by mutations in the COL7A1 gene, which codes for the so-called anchoring fibrils that connect the basal lamina of the skin to the underlying dermis [6]. Therefore, to confirm the clinical diagnosis of RDEB in the studied patients, skin cryosections of the patients and healthy controls were analyzed for expression and correct localization of type VII collagen by immuno fluorescence microscopy (Fig.2). While we detected positive staining for type VII collagen directly below the epidermis in the skin of all healthy controls, type VII collagen staining was absent in all RDEB patients when the monoclonal antibody was used, confirming the diagnosis of severe RDEB [7].


Transcriptome and ultrastructural changes in dystrophic Epidermolysis bullosa resemble skin aging.

Breitenbach JS, Rinnerthaler M, Trost A, Weber M, Klausegger A, Gruber C, Bruckner D, Reitsamer HA, Bauer JW, Breitenbach M - Aging (Albany NY) (2015)

© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4505166&req=5

Mentions: RDEB is caused by mutations in the COL7A1 gene, which codes for the so-called anchoring fibrils that connect the basal lamina of the skin to the underlying dermis [6]. Therefore, to confirm the clinical diagnosis of RDEB in the studied patients, skin cryosections of the patients and healthy controls were analyzed for expression and correct localization of type VII collagen by immuno fluorescence microscopy (Fig.2). While we detected positive staining for type VII collagen directly below the epidermis in the skin of all healthy controls, type VII collagen staining was absent in all RDEB patients when the monoclonal antibody was used, confirming the diagnosis of severe RDEB [7].

Bottom Line: In parallel we have compared the skin transcriptome of healthy young adults with that of elderly healthy donors.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.

View Article: PubMed Central - PubMed

Affiliation: Department of Dermatology and EB House Austria, Paracelsus Medical University, Salzburg, Austria.

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.

No MeSH data available.


Related in: MedlinePlus