Personalized Stem Cell Therapy to Correct Corneal Defects Due to a Unique Homozygous-Heterozygous Mosaicism of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome

This study supports the rationale for the development of cultured autologous oral mucosal epithelial stem cell sheets obtained by selected heterozygous R311K-p63 stem cells, as an effective and personalized therapy for reconstructing the ocular surface of this unique case of EEC syndrome, thus bypassing gene therapy approaches. Significance This case demonstrates that in a somatic mosaicism context, a novel homozygous mutation in the p63 gene can arise as a consequence of an allelic gene conversion event, subsequent to a de novo mutation. The heterozygous mutant R311K-p63 stem cells can be isolated by means of clonal analysis and given their good regenerative capacity, they may be used to successfully correct the corneal defects present in this unique case of ectrodactyly-ectodermal dysplasia-clefting syndrome.

http://stemcellstm.alphamedpress.org/cgi/content/short/5/8/1098?rss=1

Source: Stem Cells Translational Medicine - July 19, 2016 Category: Stem Cells Authors: Barbaro, V., Nasti, A. A., Raffa, P., Migliorati, A., Nespeca, P., Ferrari, S., Palumbo, E., Bertolin, M., Breda, C., Miceli, F., Russo, A., Caenazzo, L., Ponzin, D., Palu, G., Parolin, C., Di Iorio, E. Tags: Tissue Engineering and Regenerative Medicine, Skin-Derived Precursors/Progenitors Source Type: research