Stem Cells to the Rescue

Junctional epidermolysis bullosa was corrected by skin grafts derived from genetically altered stem cells.

Patients with junctional epidermolysis bullosa (JEB) harbor mutations in genes encoding for the glycoprotein laminin-5 (LAM5). To date, care for these patients has been largely supportive rather than corrective. Inspired by recent advances in skin stem-cell biology and gene-transfer technology, investigators in Italy attempted to correct cutaneous deficits in a single JEB patient using genetically modified stem cells (GMSCs).

Keratinocyte stem cells cloned in culture (holoclones) can be used to produce epidermal grafts for the repair of damaged skin. The investigators obtained holoclone-producing cells from the palmar keratinocytes of a patient with JEB. Using a retrovirus, they introduced a normal copy of LAM5 into the holoclones, which led…

Reviewing Author

Hensin Tsao, MD, PhD