Sci Transl Mediterranean 2014 Umegaki Arao 264ra164

 Sci Transl Med 2014 Umegaki Arao 264ra164 Exploration Paper

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

Noriko Umegaki-Arao ain al.

Sci Transl Scientif 6, 264ra164 (2014);

DOI: 10. 1126/scitranslmed. 3009342

Editor's Summary

Epidermolysis bullosa (EB) is a unusual, inherited skin disorder that creates such serious blistering that patients in many cases are relegated into a delicate life in bandages. Like a miscuglio quilt, your skin of a patient with EB can consist of both mutated skin cells (which trigger the disease) and spontaneously genetically remedied ''normal'' cells; this patchwork phenomenon is recognized as revertant mosaicism. In a new study, Umegaki-Arao and colleagues demonstrated that these revertant cells could be used to generate healthful skin, addressing a possible cell therapy to get patients with EB who may have no treatments. The authors took revertant keratinocytes (skin cells) by a patient with junctional EB, who have changement in the gene expressing type XVII collagen. These revertant keratinocytes had been used to create induced pluripotent stem skin cells, which, consequently, could be differentiated into a keratinocyte lineage that created normal-looking skin layers not only in vitro but as well in feston in mice. Because the cells already expressed type XVII collagen, there were no need for genetic correction, therefore avoiding lots of the pitfalls that gene and cell therapies face during translation to the clinic.

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''Natural Gene Therapy'' for Rare, Genetic Skin condition



Caused pluripotent control cells from human

revertant keratinocytes pertaining to the treatment of

epidermolysis bullosa

Revertant mosaicism is known as a naturally occurring phenomenon involving natural correction of a pathogenic gene mutation within a somatic cellular. It has been noticed in several innate diseases, including epidermolysis bullosa (EB), a team of inherited skin disorders characterized by blistering and scarring damage. Induced pluripotent stem cellular material (iPSCs), made from fibroblasts or keratinocytes, have been proposed as a treatment for EB. However , this requires genome editing and enhancing to correct the mutations, and, in gene therapy, productivity of targeted gene correction and bad genomic changes are still limits of translation. We display the technology of iPSCs from revertant keratinocytes of a junctional EB patient with compound heterozygous COL17A1 changement. These revertant iPSCs were then differentiated into naturally genetically remedied keratinocytes...

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