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

Reduced brain cholesterol content in arylsulfatase A-deficient mice.

Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by deficiency in arylsulfatase A ( ASA). Concentrations of cholesterol and its metabolites were determined in ASA deficient [ ASA(-/-)] mice which serve as an animal model of MLD. We observed a significant reduction in cholesterol content in the brain of adult ASA(-/-) mice when compared to wild-type controls. This was not due to loss of myelin, because ASA(-/-) mice do not demyelinate. Other cholesterol metabolites were not changed significantly in ASA(-/-) mice, except for an increase in lathosterol. Moreover, reduced cholesterol levels were also found in tissue samples from two juvenile MLD cases. Since high cholesterol levels are important for myelination, and various cellular processes, like vesicular trafficking and signal transduction, reduced cholesterol levels might be an important factor in the molecular pathology of MLD.[1]


  1. Reduced brain cholesterol content in arylsulfatase A-deficient mice. Lütjohann, D., Harzer, K., Gieselmann, V., Eckhardt, M. Biochem. Biophys. Res. Commun. (2006) [Pubmed]
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