AAV8-TBG-mPtdss1(Q353R)

AAV8-TBG-mPtdss1(Q353R) is an experimental gene therapy product consisting of a recombinant adeno-associated virus serotype 8 (AAV8) vector, engineered to deliver a gene encoding a mutant form (Q353R) of mouse phosphatidylserine synthase 1 (mPtdss1), under control of the liver-specific thyroxine-binding globulin (TBG) promoter. AAV8 is well-recognized for its high liver tropism and efficient hepatocyte transduction, making it a vector of choice for liver-directed gene therapies[2][5][10][1]. The use of the TBG promoter restricts transgene expression predominantly to hepatocytes. The Q353R mutation in mPtdss1 is likely designed for specific functional studies or disease modeling in preclinical research. The mechanism of action involves delivery and expression of the mutant mPtdss1 gene in liver cells, with the intended biological or therapeutic impact depending on the activity of the mutant enzyme and the model system used. This construct is currently used in research contexts for functional genomics, gene therapy preclinical studies, or metabolic/liver disease modeling.