Research ArticleSKIN DISEASE

Induced pluripotent stem cells from human revertant keratinocytes for the treatment of epidermolysis bullosa

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Science Translational Medicine  26 Nov 2014:
Vol. 6, Issue 264, pp. 264ra164
DOI: 10.1126/scitranslmed.3009342

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“Natural Gene Therapy” for Rare, Genetic Skin Disease

Epidermolysis bullosa (EB) is a rare, inherited skin disorder that causes such severe blistering that patients are often relegated to a delicate life in bandages. Like a patchwork quilt, the skin of a patient with EB can consist of both mutated skin cells (which cause the disease) and spontaneously genetically corrected “normal” cells; this patchwork phenomenon is known as revertant mosaicism. In a new study, Umegaki-Arao and colleagues demonstrated that these revertant cells could be used to generate healthy skin, representing a possible cell therapy for patients with EB who have no treatment options. The authors took revertant keratinocytes (skin cells) from a patient with junctional EB, who have mutations in the gene expressing type XVII collagen. These revertant keratinocytes were used to generate induced pluripotent stem cells, which, in turn, could be differentiated into a keratinocyte lineage that created normal-looking skin layers not only in vitro but also in vivo in mice. Because the cells already expressed type XVII collagen, there was no need for genetic correction, thus avoiding many of the pitfalls that gene and cell therapies face during translation to the clinic.

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