EXPRESSION ADENO-ASSOCIATED VECTOR FOR TREATING MULTIPLE EPIPHYSEAL DYSPLASIA CAUSED BY MUTATIONS IN SLC26A2 GENE Russian patent published in 2025 - IPC C12N15/86 A61K48/00 A61P19/02 

FIELD: biotechnology.

SUBSTANCE: invention relates to molecular biology and biotechnology, in particular to expression vectors based on adeno-associated viruses (AAV), and can be used in medicine for treating patients with multiple epiphyseal dysplasia (MED) caused by mutations in the gene of the sulphate ion transporter SLC26A2. An expression vector for increasing expression of the SLC26A2 gene in mammalian cells is a viral particle of an adeno-associated virus (AAV), having serotype 5 AAB capsid proteins, in which a single-stranded DNA molecule is packaged as a genome, at the ends of which there are serotype 2 AAB sequences. Inside ITR AAB serotype 2 sequence of early promoter of human cytomegalovirus, intron from human beta-globin gene, human SLC26A2 gene sequence, polyadenylation signal from human growth hormone gene.

EFFECT: use of the invention provides an increase in the expression of the SLC26A2 gene by its intra-articular introduction, compensating for the lack of a transporter protein of sulphate ions in the involved joint tissues and thereby improving the quality of life of the patients with MED.

2 cl, 2 dwg, 3 ex