| First Author | Xie C | Year | 2017 |
| Journal | J Lipid Res | Volume | 58 |
| Issue | 3 | Pages | 512-518 |
| PubMed ID | 28053186 | Mgi Jnum | J:274490 |
| Mgi Id | MGI:6295252 | Doi | 10.1194/jlr.M071274 |
| Citation | Xie C, et al. (2017) AAV9-NPC1 significantly ameliorates Purkinje cell death and behavioral abnormalities in mouse NPC disease. J Lipid Res 58(3):512-518 |
| abstractText | Niemann-Pick type C (NPC) disease is a fatal inherited neurodegenerative disorder caused by loss-of-function mutations in the NPC1 or NPC2 gene. There is no effective way to treat NPC disease. In this study, we used adeno-associated virus (AAV) serotype 9 (AAV9) to deliver a functional NPC1 gene systemically into NPC1(-/-) mice at postnatal day 4. One single AAV9-NPC1 injection resulted in robust NPC1 expression in various tissues, including brain, heart, and lung. Strikingly, AAV9-mediated NPC1 delivery significantly promoted Purkinje cell survival, restored locomotor activity and coordination, and increased the lifespan of NPC1(-/-) mice. Our work suggests that AAV-based gene therapy is a promising means to treat NPC disease. |
