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Fraites, T.J. et al.

Correction of the enzymatic and functional deficits in a model of Pompe disease using adeno-associated virus vectors.

Pompe disease is a lysosomal storage disease caused by the absence of acid alpha-1,4 glucosidase ( GAA). The pathophysiology of Pompe disease includes generalized myopathy of both cardiac and skeletal muscle. We sought to use recombinant adeno-associated virus (rAAV) vectors to deliver functional GAA genes in vitro and in vivo. Myotubes and fibroblasts from Pompe patients were transduced in vitro with rAAV2- GAA. At 14 days postinfection, GAA activities were at least fourfold higher than in their respective untransduced controls, with a 10-fold increase observed in GAA-deficient myotubes. BALB/c and Gaa(-/-) mice were also treated with rAAV vectors. Persistent expression of vector-derived human GAA was observed in BALB/c mice up to 6 months after treatment. In Gaa(-/-) mice, intramuscular and intramyocardial delivery of rAAV2- Gaa (carrying the mouse Gaa cDNA) resulted in near-normal enzyme activities. Skeletal muscle contractility was partially restored in the soleus muscles of treated Gaa(-/-) mice, indicating the potential for vector-mediated restoration of both enzymatic activity and muscle function. Furthermore, intramuscular treatment with a recombinant AAV serotype 1 vector (rAAV1- Gaa) led to nearly eight times normal enzymatic activity in Gaa(-/-) mice, with concomitant glycogen clearance as assessed in vitro and by proton magnetic resonance spectroscopy.[1]

References

Correction of the enzymatic and functional deficits in a model of Pompe disease using adeno-associated virus vectors. Fraites, T.J., Schleissing, M.R., Shanely, R.A., Walter, G.A., Cloutier, D.A., Zolotukhin, I., Pauly, D.F., Raben, N., Plotz, P.H., Powers, S.K., Kessler, P.D., Byrne, B.J. Mol. Ther. (2002) [Pubmed]

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