CODON-OPTIMISED CDNA CODING HUMAN DYSFERLIN, GENETICALLY ENGINEERED CONSTRUCT, RECOMBINANT ADENOVIRUS AND PHARMACEUTICAL COMPOSITION FOR TREATING DYSFERLINOPATHIES

摘要

FIELD: medicine, pharmaceutics.;SUBSTANCE: invention refers to biotechnology and concerns cDNA coding human dysferlin, a genetically engineered construct wherein such cDNA is cloned, a recombinant adenovirus and a pharmaceutical composition. The described genetically engineered construct comprises an expression plasmid adenovirus vector pAd/CMV/V5-DEST, wherein the codon-optimised cDNA having a sequence presented in SEQ ID NO: 1 and coding human dysferlin is cloned according to recombination sites attB1 and attB2. The recombinant replication defect adenovirus serotype 5 is prepared with using such genetically engineered construct and included into the pharmaceutical composition in an effective amount.;EFFECT: inventions enables recovering the disturbed dysferlin expression and/or function in the skeletal striated muscle tissue and resulting in the positive effect.;4 cl, 2 dwg