LENTIVIRAL VECTORS FOR PKLR DELIVERY FOR TREATMENT OF PYRUVATE KINASE DEFICIENCY Russian patent published in 2022 - IPC C12N15/54 C12N15/63 C12N9/12 A61K48/00 

FIELD: medicine.

SUBSTANCE: group of inventions relates to an expression cassette for the treatment of pyruvate kinase deficiency (hereinafter – PKD) and its use. An expression cassette is proposed for the treatment of PKD deficiency, containing a polynucleotide sequence containing, in the following order from 5'- to 3'-end: a) a promotor sequence; and b) a codon-optimized sequence encoding a human PKLR gene product. At the same time, the specified promotor sequence is functionally connected to the codon-optimized sequence encoding the human PKLR gene product, and it is phosphoglycerate kinase (PGK) promotor, cytomegalovirus (CMV) promotor, lac promotor, T3 promotor or T7 promotor. The specified codon-optimized sequence encoding the human PKLR gene product is at least 95% identical to SEQ ID NO: 8. A vector for the recombinant gene delivery, containing an expression cassette, a mammal cell for the treatment of PKD deficiency, containing the expression cassette or the delivery vector, a pharmaceutical composition for the treatment of PKD deficiency, containing the delivery vector or the cell, a method for the treatment or prevention of PKD deficiency in a subject who needs it, including the administration to the specified subject of the pharmaceutical composition, as well as a method for the expression of a human PKLR gene in erythroid cells are also proposed.

EFFECT: group of inventions provides for the effective expression of a target gene.

21 cl, 24 dwg, 4 tbl, 11 ex