A product for the treatment of Pompe disease

Abstract

The present application discloses a product for treating Pompe disease. The product includes: a reagent capable of inserting the target gene into the No. 13 intron of the Alb (Albumin, albumin) gene of liver cells and co-expressing the target gene and Alb; the target gene includes GAA ( Acid α-glucosidase, acid α-glucosidase) coding gene. This application selects intron 13 of the Alb gene in liver cells as the insertion site of the target gene, and the integrated donor sequence designed according to this site can ensure the complete expression of Alb and co-expression with the exogenous target gene, so as to achieve The goal of high expression of the target gene can be achieved without destroying the expression of the endogenous gene. The product provided by the application can improve the symptoms of Pompe disease, has higher efficiency and better safety, and has a good application prospect in clinical treatment.

Description

technical field [0001] The invention relates to the field of gene therapy, in particular to a disease treatment and / or prevention product that can be used for metabolic cross-correction treatment with the liver, and in particular to a product for treating Pompe's disease. Background technique [0002] Pompe disease is a severe metabolic myopathy caused by mutations in the acid α-glucosidase (GAA) gene, named after Dutch pathologist Johannes Cassianus Pompe. GAA exists in lysosomes in normal metabolism, and decomposes glycogen in the acidic environment of lysosomes to provide energy for the body. GAA deficiency leads to glycogen accumulation in lysosomes in multiple tissues, with heart and skeletal muscle being the most severely affected. Therefore, this disease is also called Type II glycogen storage disease (GSDII) or acid maltase deficiency (Acid maltase deficiency). [0003] Muscle tissue and the nervous system are typical of degenerative conditions due to glycogen accu...

AI Technical Summary

Problems solved by technology

[0007] The existing HITI technology only provides an integration method (or strategy), but there is no specific selection of insertion sites, optimization of insertion fragments, and insertions and deletions (insertions and deletions, indels) generated by binding sites. Conduct detailed discussions and research

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