Methods of treating or preventing pyruvate kinase deficiency
AssigneesCentro de Investigaciones Energéticas, Medioambientales y Tecnológicas, O.A, M.P., Fundación Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Consorcio Centro de Investigación Biomédica en Red, M.P.
InventorsJose C. SEGOVIA, Maria G. GOMEZ, Susana NAVARRO, Nestor MEZA, Juan BUEREN, Maria G. BRAVO
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Abstract
The present disclosure provides polynucleotide cassettes, expression vectors and methods for the expression of a gene in mammalian cells to provide gene therapy for pyruvate kinase deficiency.
Claims25
An expression cassette comprising a polynucleotide sequence comprising in the following 5′ to 3′ order:
- a) a promoter sequence;
- b) a sequence encoding a gene product;
- and
- c) an ribonucleic acid (RNA) export signal,
- wherein the promoter sequence is operably linked to the sequence encoding the pyruvate kinase polypeptide.
A method for expressing a transgene in erythroid cells, comprising contacting one or more erythroid cells with an effective amount of a recombinant viral vector, wherein the vector comprises a human phosphoglycerate kinase promoter, a codon optimized version of a human pyruvate kinase, liver and red blood cell (PKLR) cDNA transgene, and a mutated post-transcriptional regulatory element of the woodchuck hepatitis virus, wherein following said contacting, PKLR is expressed at detectable levels in the one or more erythroid cells.
Dependencies are inferred from the claim text.