Small-molecule therapies for genetic skin fragility.

Of the known genetic skin diseases, dystrophic epidermolysis bullosa (DEB) is a prime target for therapy development. It is a monogenic, strongly disabling disorder with high unmet medical need. Lifelong generalized skin blistering as a consequence of minor mechanical friction, chronic wounds, excessive scarring, and progressive soft-tissue fibrosis are clinical hallmarks. Joint contractures and mitten deformities of the extremities cause severe disability, and the fibrosis of the skin increases tissue stiffness and favors development of aggressive squamous cell carcinoma, a feared complication of the disease.1 For obvious reasons, many investigators have pursued curative gene-, cell-, and protein-based therapy approaches for DEB, but these have turned out to be much more challenging than anticipated and have shown very limited benefit in pilot clinical trials.2 In the recent past, it has become clear that alternative approaches are urgently needed to improve the health and quality of life of severely affected patients. In line with this, Cogan et al.3 report in this issue on the use of aminoglycosides to induce readthrough of premature termination codons (PTCs) and to restore functional protein production in DEB keratinocytes and fibroblasts in vitro.

• Publication year

  2014

• Venue

  Molecular Therapy

• Publication date

  2014-10-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1038/mt.2014.169PMID 25269942PMCID PMC4428409
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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