According to a study appearing in the journal Human Molecular Genetics, gene therapy might be used to treat the most common form of Niemann-Pick disease. THe study, conducted by scientists at National Institutes of Health (NIH), has shown that a gene therapy prolongs the lifespan of mice with Niemann-Pick disease type C1. Niemann-Pick disease is a group of inherited, fatal metabolic disorders that affect the central nervous system. It is caused by mutation in genes that regulate lipid metabolism. Patients with the disorder have an abnormal lipid metabolism that leads to an accumulation of lipids in cells of various organs. This accumulation eventually impairs the intellectual and motor functions. Currently, there is no cure for Niemann-Pick disease, and most patients die in their teens. Niemann-Pick disease type C1 strikes in early childhood and is lethal within a decade of diagnosis. It’s caused by a mutation in the NPC1 gene. The protein produced from the NPC1 gene is responsible for lipid transport. NPC1 mutation leads to a lack of functional protein. In the study, NIH scientists set out to find ways to correct the faulty NPC1 gene in a mouse model of Niemann-Pick disease type C1. They used a non-pathogenic virus termed AAV9 to deliver normal NPC1 gene to the cells of the mice. Mice that received the gene therapy displayed an increased lifespan, characterized by delayed weight loss and diminished motor decline. Moreover, the treated mice had decreased cholesterol storage and Purkinje neuron loss. NIH scientists also found that the effect of the NPC1 gene therapy was equal to that of VTS-270, an experimental drug that had been tested in clinical trials. The data demonstrated the therapeutic effect of gene therapy on Niemann-Pick disease type C1, and showed that extraneuronal NPC1 expression can improve the survival of mice with the disease. Now NIH scientists are studying whether combining gene therapy and VTS-270 improve results. High quality proteins like Recombinant Adrb2 and NPC1.
