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Titolo:
Correction of deficient CD34(+) cells from peripheral blood after mobilization in a patient with congenital erythropoietic porphyria
Autore:
Mazurier, F; Geronimi, F; Lamrissi-Garcia, I; Morel, C; Richard, E; Ged, C; Fontanellas, A; Moreau-Gaudry, F; Morey, M; de Verneuil, H;
Indirizzi:
Univ Bordeaux 2, Lab Pathol Mol & Therapie Gen, EA 484, F-33076 Bordeaux, France Univ Bordeaux 2 Bordeaux France F-33076 EA 484, F-33076 Bordeaux, France Hosp Son Dureta, Serv Hematol & Hemoterapia, Palma de Mallorca, Spain HospSon Dureta Palma de Mallorca Spain rapia, Palma de Mallorca, Spain
Titolo Testata:
MOLECULAR THERAPY
fascicolo: 3, volume: 3, anno: 2001,
pagine: 411 - 417
SICI:
1525-0016(200103)3:3<411:CODCCF>2.0.ZU;2-0
Fonte:
ISI
Lingua:
ENG
Soggetto:
BONE-MARROW TRANSPLANTATION; COLONY-STIMULATING FACTOR; CHRONIC GRANULOMATOUS-DISEASE; FLUORESCENCE-BASED SELECTION; DELTA-AMINOLEVULINIC-ACID; MEDIATED GENE-TRANSFER; III SYNTHASE GENE; GUNTHERS-DISEASE; LENTIVIRAL VECTORS; HEMATOPOIETIC-CELLS;
Keywords:
porphyria; hematopoietic stem cells; mobilized peripheral blood; gene therapy; retroviral vectors;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
47
Recensione:
Indirizzi per estratti:
Indirizzo: de Verneuil, H Univ Bordeaux 2, Lab Pathol Mol & Therapie Gen, EA 484, 146Rue Leo Saignat, F-33076 Bordeaux, France Univ Bordeaux 2 146 Rue Leo Saignat Bordeaux France F-33076
Citazione:
F. Mazurier et al., "Correction of deficient CD34(+) cells from peripheral blood after mobilization in a patient with congenital erythropoietic porphyria", MOL THER, 3(3), 2001, pp. 411-417

Abstract

Congenital erythropoietic porphyria (CEP) is an inherited disease due to adeficiency in the uroporphyrinogen III synthase (UROS), the fourth enzyme of the heme pathway. It is characterized by accumulation of uroporphyrin I in the bone marrow, peripheral blood, and other organs. The onset of most cases occurs in infancy and the main symptoms are cutaneous photosensitivityand hemolysis. For severe transfusion-dependent cases, when allogeneic cell transplantation cannot be performed, autografting of genetically modifiedprimitive/stem cells is the only alternative. In the present study, efficient mobilization of peripheral blood primitive CD34(+) cells was performed on a young adult CEP patient. Retroviral transduction of this cell population with the therapeutic human UROS (hUS) gene resulted in both enzymatic and metabolic correction of CD34(+)-derived cells, as demonstrated by the increase in UROS activity and by a 53% drop in porphyrin accumulation. A 10-24% gene transfer efficiency was achieved in the most primitive cells, as demonstrated by the expression of enhanced green fluorescent protein (EGFP) inlong-term culture-initiating cells (LTC-IC). Furthermore, gene expression remained stable during in vitro erythroid differentiation. Therefore, theseresults are promising for the future treatment of CEP patients by gene therapy.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/02/20 alle ore 23:20:20