Transglutaminase 1 delivery to lamellar ichthyosis keratinocytes.

摘要: Therapeutic gene delivery in severe genetic skin disease may require production of a uniformly corrected population cells capable regeneration normal elements when returned to the host. To achieve this, we have used lamellar ichthyosis (LI), disorder epidermal differentiation recently associated with defects keratinocyte transglutaminase (TGase1), as prototype. We high-efficiency retroviral approach restore levels TGase1 expression primary keratinocytes from severely affected LI patients previously lacking TGase1. Delivered was correctly targeted membrane association and restored patient cell activity normal. Corrected also demonstrated restoration defective involucrin cross-linking vitro measures cornification found cells. These results indicate that efficient early passage can produce The capability such provide basis for future efforts at therapy disease.