What is it about?
Revertant mosaicism refers to the presence of two genetically heterogeneous populations of cells as a result of spontaneous genetic correction during mitosis. Cutaneous revertant mosaicism has been described in epidermolysis bullosa (EB). Here we report a revertant mosaicism with intragenic crossover in the COL7A1 gene leading to restoration of basement membrane collagen VII and anchoring fibrils in a patch of skin in an individual with recessive dystrophic EB.
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Why is it important?
Identification of a patch of revertant mosaicism that shows functional properties similar to those of a heterozygous carrier now provides new therapeutic opportunities for patients. Expansion of revertant keratinocytes and grafting onto unreverted sites have already been attempted. In addition, recent technological advances enabling creation of inducible pluripotent stem cells from keratinocytes also offer new possibilities for translational research.
Perspectives
The ‘‘natural gene therapy’’ observed in this patient may hold considerable future therapeutic potential.
Nikoletta Nagy
Read the Original
This page is a summary of: Revertant Mosaicism in Recessive Dystrophic Epidermolysis Bullosa, Journal of Investigative Dermatology, July 2010, Elsevier,
DOI: 10.1038/jid.2010.64.
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