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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C.

Niemann-Pick disease type C (NP-C) is a hereditary neurovisceral lipid storage disorder. Although traditionally considered a primary cholesterol storage disorder, a variety of glycolipids accumulate in NP-C cells, which resemble those from glycosphingolipidosis patients. Substrate reduction therapy (SRT) with miglustat, an inhibitor of glycosphingolipid biosynthesis, is a novel therapy for the glycosphingolipidoses. We report the use of SRT in a patient with NP-C. We show that depletion of glycosphingolipids by miglustat treatment reduces pathological lipid storage, improves endosomal uptake and normalises lipid trafficking in peripheral blood B lymphocytes. The demonstration that treatment with miglustat, which has no direct effect on cholesterol metabolism, corrects the abnormal lipid trafficking seen in B lymphocytes in NP-C indicates that glycosphingolipid accumulation is the primary pathogenetic event in NP-C. These observations support the use of SRT in patients with this devastating neurodegenerative disease.[1]

References

  1. Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C. Lachmann, R.H., te Vruchte, D., Lloyd-Evans, E., Reinkensmeier, G., Sillence, D.J., Fernandez-Guillen, L., Dwek, R.A., Butters, T.D., Cox, T.M., Platt, F.M. Neurobiol. Dis. (2004) [Pubmed]
 
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