Recombinant adeno-associated virus and packaging system and application thereof

By using recombinant adeno-associated virus carrying the GTPBP3 gene to target and infect heart and muscle tissue, the treatment challenge of mitochondrial diseases has been solved, and effective correction of GTPBP3 point mutations and symptom improvement have been achieved.

CN121653079APending Publication Date: 2026-03-13CENT FOR EXCELLENCE IN MOLECULAR CELL SCI CHINESE ACAD OF SCI
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Patent Information

Application Number
CN202411273140.6
Authority / Receiving Office
CN · China
Patent Type
Applications(China)
Current Assignee / Owner
Filing Date
2024-09-11
Publication Date
2026-03-13

AI Technical Summary

Technical Problem

Currently, there is a lack of effective treatments for mitochondrial diseases caused by pathogenic point mutations in taurine-modifying enzymes on human mitochondrial tRNA, and existing treatments such as oral taurine are not very effective.

Method used

Using recombinant adeno-associated virus (rAAV) as a vector, carrying the expression cassette of the GTPBP3 gene, the drug was prepared through a three-plasmid packaging system to target and infect heart and muscle tissues, correcting mitochondrial diseases caused by GTPBP3 point mutations.

Benefits of technology

It effectively corrected mitochondrial diseases caused by GTPBP3 point mutations, improved related symptoms such as chronic progressive extraocular muscle palsy and Kearns-Sayre syndrome, and provided a theoretical basis and method for gene therapy.

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Abstract

The invention relates to the technical field of biological medicine, in particular to a recombinant adeno-associated virus and a packaging system and application thereof. An expression cassette of the GTPBP3 gene is inserted into the genome of the recombinant adeno-associated virus. Through the recombinant adeno-associated virus vector, the defects of heart and muscle in protein and function caused by Gtpbp3 mutation can be effectively supplemented safely and stably in a targeting manner, and feasibility exploration of gene therapy on mitochondrial diseases caused by modification enzyme defects is performed for the first time; and a theoretical basis and a method are provided for the treatment of clinical similar mitochondrial diseases.
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