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Identifying miRNA key players shaping epidermolysis bullosa

Project lead Dr Verena Wally
Organisation EB House Austria, Salzburg, AUSTRIA
Project budget EUR 348,678.56
Start date / Duration 01. Jan 2016 / 48 months
Funder(s) / Co-Funder(s) PMU, Others
Other funder(s) Austrian Science Fund (FWF)
Research area EB genetics, epigenetics & biology

Project details

Short lay summary

The discovery of short “micro”-RNAs (miRNAs) has been a breakthrough in the understanding of cellular processes involved in tumor development. With the aim to understand the role of certain miRNAs in the context of squamous cell carcinoma (SCC) development in RDEB, we want to identify miRNA candidates that are differentially regulated in cells derived from RDEB-SCCs compared to normal skin cells. These miRNAs will then be further evaluated for their potential to act as a therapeutic target, or to be used as prognostic or diagnostic markers for early detection and disease monitoring in RDEB-associated SCCs.

Scientific summary

In this project we aim to shed light on new, largely unexplored aspects of RDEB, affecting disease progression and cancer development. In detail, we focused on post-transcriptional regulatory processes in RDEB-skin, in particular on micro-RNAs (miRNAs). Even though the involvement of miRNAs is known to play a major role in tissue homeostasis, various types of cancer and other diseases, there is only little data available regarding their regulation and function in the context of EB. Hence, we aim to identify miRNA-related pathomechanisms, which underlie RDEB disease progression and characteristic complications like impaired wound healing and cancer development. Our goal is to interfere with identified key players of deregulated pathways, by applying small molecule or oligonucleotide-based therapeutics. Further, we want to identify miRNAs that have the potential to be used as diagnostic markers for RDEB-SCC early detection and / or disease monitoring, in order to improve diagnostics and therapy.

We applied whole transcriptome, as well as miRNome analysis and correlated data with active, AGO2 co-immunoprecipitated miRNAs, in order to identify deregulated miRNAs and target mRNAs in different RDEB- and healthy control cell lines. The objective of the project is to provide a general insight in miRNA based, epigenetically regulated pathways at different RDEB stages and in various cell types, as well as in RDEB tissue. MiRNAs that have the potential to be used as markers for RDEB-SCCs or which have key functions in RDEB-SCC development or progression are nominated and will be further investigated for their potential in future therapy developments.

Strategic relevance

  • DEBRA strategic goal: ‘Develop disease-modifying and curative therapies’ through research and clinical studies, to develop therapies that target the underlying disease mechanism in EB.
  • Project goal: to investigate and identify miRNAs that can be used as diagnostic markers or therapy targets for RDEB-SCCs.
  • Preceding/ follow-on projects, and related projects: This project builds on a pilot study funded by the Paracelsus Medical University and preliminary data generated by core funding of DEBRA Austria.

What did this project achieve?

Currently, some miRNAs that are significantly deregulated in RDEB-SCCs have been identified. Among those, there are miRNAs known to be onco- or tumor suppressor-miRs, that might hold the potential to act as therapeutic targets or SCC markers.


Wound healing
Squamous cell carcinoma
EB House Austria
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