[HTML][HTML] On the mechanism of accumulation of cholestanol in the brain of mice with a disruption of sterol 27-hydroxylase
A Båvner, M Shafaati, M Hansson, M Olin… - Journal of lipid …, 2010 - ASBMB
The rare disease cerebrotendinous xanthomatosis (CTX) is due to a lack of sterol 27-
hydroxylase (CYP27A1) and is characterized by cholestanol-containing xanthomas in brain
and tendons. Mice with the same defect do not develop xanthomas. The driving force in the
development of the xanthomas is likely to be conversion of a bile acid precursor into
cholestanol. The mechanism behind the xanthomas in the brain has not been clarified. We
demonstrate here that female cyp27a1−/− mice have an increase of cholestanol of about 2.5 …
hydroxylase (CYP27A1) and is characterized by cholestanol-containing xanthomas in brain
and tendons. Mice with the same defect do not develop xanthomas. The driving force in the
development of the xanthomas is likely to be conversion of a bile acid precursor into
cholestanol. The mechanism behind the xanthomas in the brain has not been clarified. We
demonstrate here that female cyp27a1−/− mice have an increase of cholestanol of about 2.5 …