Red cell enzyme deficiencies: from genetic basis to gene transfer.
Features of some of the more common erythrocyte enzyme deficiencies that may be relevant to possible future attempts to correct the deficiencies by gene transfer approaches are considered. The last few years have seen rapid progress in our understanding of the molecular basis of these diseases and the regulation of the genes underlying these deficiencies is now coming into focus. Animal models for some of the conditions are available and others can be produced by homologous recombination techniques. Although considerable improvements in gene transfer vectors and protocols are required, this research may lead eventually to gene replacement therapy for these severe conditions.
Mason
P J
PJ
Department of Haematology, Royal Postgraduate Medical School, Hammersmith Hospital, London, United Kingdom.
D000818:Animals; D001483:Base Sequence; D002986:Clinical Trials as Topic; D004247:DNA; D004195:Disease Models, Animal; D004798:Enzymes / Q000172:deficiency* / Q000235:genetics; D004912:Erythrocytes / Q000201:enzymology*; D005786:Gene Expression Regulation; D018014:Gene Transfer Techniques; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000235:genetics* / Q000628:therapy; D008969:Molecular Sequence Data
D004798:Enzymes; D004247:DNA