METHODS AND COMPOSITIONS FOR TREATING FABRY DISEASE Russian patent published in 2024 - IPC A61K38/46 C12N15/11 

FIELD: biotechnology.

SUBSTANCE: described is an expression construct comprising a mutated marmot hepatitis virus (WHV) post-transcriptional regulatory element (WRPE) sequence and a transgene α-galactosidase A (α-Gal A), coding at least one protein α-Gal A. Also described is an expression construct containing an enhancer containing a nucleotide sequence presented by SEQ ID NO: 2, a promoter comprising a nucleotide sequence represented by SEQ ID NO: 3, intron containing a nucleotide sequence presented by SEQ ID NO: 4, transgene α-Gal A, containing a nucleotide sequence presented by SEQ ID NO: 5, a mutated WPRE sequence containing a nucleotide sequence presented by SEQ ID NO: 6, and a poly A signal sequence containing a nucleotide sequence presented by SEQ ID NO: 7. Disclosed is a composition for preventing, inhibiting, or treating Fabry disease or one or more symptoms associated with Fabry disease, where the composition contains an expression structure. In vitro protein expression method is described. α-Gal A in a cell, where the method involves introducing an expression construct into a cell, α-Gal A is expressed in the cell. Also described is a genetically modified cell for preventing, inhibiting or treating Fabry disease or one or more symptoms associated with Fabry disease, where the cell contains an expression structure. What is disclosed is the use of an expression construct, composition or cell for preparing a drug for use in preventing, inhibiting or treating Fabry disease or one or more symptoms associated with Fabry disease. Disclosed in vitro method of producing protein α-Gal A for treating Fabry disease, where protein expression α-Gal A is carried out in an isolated cell, and protein recovery α-Gal A produced by the cell. Described is the use of a composition containing an expression structure, a composition or a composition containing a cell for preventing, inhibiting or treating Fabry disease or one or more symptoms associated with Fabry disease.

EFFECT: invention extends the range of products for use in protein expression α-Gal A and for preventing, inhibiting or treating Fabry disease or one or more symptoms associated with Fabry disease.

32 cl, 14 dwg, 4 tbl, 7 ex