A demonstration using mouse models that successful gene therapy for cystic fibrosis requires only partial gene correction.

JR Dorin, R Farley, S Webb, SN Smith, E Farini… - Gene therapy, 1996 - europepmc.org
JR Dorin, R Farley, S Webb, SN Smith, E Farini, SJ Delaney, BJ Wainwright, EW Alton
Gene therapy, 1996europepmc.org
Quantifying the level of transgene expression necessary for phenotypic effect is an important
consideration in designing somatic gene therapy protocols. A nonlinear relationship
between phenotype and gene activity is predicted by control analysis for any autosomal
recessive condition. The unaffected phenotype of heterozygotes for autosomal recessive
disorders demonstrates that 50% of the normal level of gene expression is sufficient to
prevent disease. By extension, an exaggerated and positive effect on the mutant phenotype …
Quantifying the level of transgene expression necessary for phenotypic effect is an important consideration in designing somatic gene therapy protocols. A nonlinear relationship between phenotype and gene activity is predicted by control analysis for any autosomal recessive condition. The unaffected phenotype of heterozygotes for autosomal recessive disorders demonstrates that 50% of the normal level of gene expression is sufficient to prevent disease. By extension, an exaggerated and positive effect on the mutant phenotype is predicted to arise from only a small addition of normal transgene expression delivered by gene therapy. We tested this expectation directly by intercrossing mice carrying different Cftr alleles which modulate Cftr gene expression from 0 to 100%. We demonstrate that 5% of the normal level of Cftr gene expression results in a disproportionately large correction of the chloride ion transport defect (50% of normal) and essentially complete rescue of the intestinal disease (100% survival). It follows that even modest levels of transgene expression and only partial correction of CFTR channel activity may have a significant clinical impact.
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