[A model of congenital erythropoietic porphyria for gene transfer in hematopoietic cells].
CEP is a rare disease inherited as an autosomal recessive trait and characterized by an overproduction and accumulation of porphyrins in the bone-marrow. Because the predominant site of metabolic expression of the disease is the erythropoietic system, bone marrow transplantation represents a curative treatment for patients with severe phenotypes. This treatment can be considered in severe cases when the disease appears in the first few years of life. When bone marrow transplantation is not possible, gene therapy by transplantation of genetically modified hematopoietic cells is an attractive alternative for the future. In this report, we present the restoration of enzymatic activity and the metabolic correction of deficient cells in vitro after transduction with retroviral vectors. The future availability of a mouse model of the disease will permit ex vivo gene therapy experiments on the entire animal.
de Verneuil
H
H
Laboratoire de Pathologie Moléculaire et Thérapie Génique, Université Victor-Ségalen Bordeaux 2.
Moreau-Gaudry
F
F
Ged
C
C
D000818:Animals; D001853:Bone Marrow / Q000201:enzymology; D001854:Bone Marrow Cells; D004195:Disease Models, Animal; D018014:Gene Transfer Techniques; D015316:Genetic Therapy / Q000379:methods*; D005822:Genetic Vectors; D018380:Hematopoietic Stem Cell Transplantation; D051379:Mice; D017092:Porphyria, Erythropoietic / Q000201:enzymology / Q000235:genetics / Q000628:therapy*; D012190:Retroviridae; D014576:Uroporphyrinogen III Synthetase / Q000378:metabolism
D014576:Uroporphyrinogen III Synthetase