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Transcriptome and ultrastructural changes in dystrophic Epidermolysis bullosa resemble skin aging

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...

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Autores principales: Breitenbach, Jenny S., Rinnerthaler, Mark, Trost, Andrea, Weber, Manuela, Klausegger, Alfred, Gruber, Christina, Bruckner, Daniela, Reitsamer, Herbert A., Bauer, Johann W., Breitenbach, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4505166/
https://www.ncbi.nlm.nih.gov/pubmed/26143532
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author Breitenbach, Jenny S.
Rinnerthaler, Mark
Trost, Andrea
Weber, Manuela
Klausegger, Alfred
Gruber, Christina
Bruckner, Daniela
Reitsamer, Herbert A.
Bauer, Johann W.
Breitenbach, Michael
author_facet Breitenbach, Jenny S.
Rinnerthaler, Mark
Trost, Andrea
Weber, Manuela
Klausegger, Alfred
Gruber, Christina
Bruckner, Daniela
Reitsamer, Herbert A.
Bauer, Johann W.
Breitenbach, Michael
author_sort Breitenbach, Jenny S.
collection PubMed
description 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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spelling pubmed-45051662015-07-23 Transcriptome and ultrastructural changes in dystrophic Epidermolysis bullosa resemble skin aging Breitenbach, Jenny S. Rinnerthaler, Mark Trost, Andrea Weber, Manuela Klausegger, Alfred Gruber, Christina Bruckner, Daniela Reitsamer, Herbert A. Bauer, Johann W. Breitenbach, Michael Aging (Albany NY) Research Paper 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. Impact Journals LLC 2015-06-14 /pmc/articles/PMC4505166/ /pubmed/26143532 Text en Copyright: © 2015 Breitenbach et al. http://creativecommons.org/licenses/by/2.5/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Paper
Breitenbach, Jenny S.
Rinnerthaler, Mark
Trost, Andrea
Weber, Manuela
Klausegger, Alfred
Gruber, Christina
Bruckner, Daniela
Reitsamer, Herbert A.
Bauer, Johann W.
Breitenbach, Michael
Transcriptome and ultrastructural changes in dystrophic Epidermolysis bullosa resemble skin aging
title Transcriptome and ultrastructural changes in dystrophic Epidermolysis bullosa resemble skin aging
title_full Transcriptome and ultrastructural changes in dystrophic Epidermolysis bullosa resemble skin aging
title_fullStr Transcriptome and ultrastructural changes in dystrophic Epidermolysis bullosa resemble skin aging
title_full_unstemmed Transcriptome and ultrastructural changes in dystrophic Epidermolysis bullosa resemble skin aging
title_short Transcriptome and ultrastructural changes in dystrophic Epidermolysis bullosa resemble skin aging
title_sort transcriptome and ultrastructural changes in dystrophic epidermolysis bullosa resemble skin aging
topic Research Paper
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4505166/
https://www.ncbi.nlm.nih.gov/pubmed/26143532
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