Drug Repurposing Reveals mTOR Inhibition as a Promising Strategy for Epidermolysis Bullosa Simplex

Hélène Ragot; Alain Hovnanian

doi:10.1016/j.jid.2021.11.012

Drug Repurposing Reveals mTOR Inhibition as a Promising Strategy for Epidermolysis Bullosa Simplex

J Invest Dermatol. 2022 Feb;142(2):275-278. doi: 10.1016/j.jid.2021.11.012. Epub 2021 Dec 17.

Authors

Hélène Ragot¹, Alain Hovnanian²

Affiliations

¹ INSERM UMR 1163, Laboratory of genetic skin diseases, Imagine Institute, Paris, France.
² INSERM UMR 1163, Laboratory of genetic skin diseases, Imagine Institute, Paris, France; University of Paris, Paris, France; Department of Genetics, Necker-Enfants Malades (AP-HP), Paris, France. Electronic address: [email protected].

PMID: 34924185
DOI: 10.1016/j.jid.2021.11.012

Abstract

Drug repurposing has the potential to discover new treatments for diseases with high unmet medical needs. Lee et al. (2021) combined transcriptomics and computational analysis of drug-target databases to identify novel therapies for epidermolysis bullosa simplex. Differential gene expression analysis of blister epidermis identified the phosphoinositide 3-kinase/protein kinase B/mTOR signaling pathway as central. A pilot study using a topical mTOR inhibitor showed marked improvement.

Publication types

Comment

MeSH terms

Drug Repositioning
Epidermolysis Bullosa Simplex* / drug therapy
Epidermolysis Bullosa Simplex* / genetics
Epidermolysis Bullosa*
Humans
Phosphatidylinositol 3-Kinases
Pilot Projects
TOR Serine-Threonine Kinases

Substances

MTOR protein, human
TOR Serine-Threonine Kinases