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Xie, Chang; Gong, Xue-Min; Luo, Jie; Li, Bo-Liang; Song, Bao-Liang
Journal of lipid research, 03/2017, Letnik: 58, Številka: 3Journal Article
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.
