SLOS and oxidative metabolites

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Smith-Lemli-Opitz Syndrome (SLOS) is the most common disorder of sterol synthesis, and is caused by a defect in 7-dehydrocholesterol reductase. Biochemical markers for this disease include increased 7- and 8-dehydrocholesterol. Xu et al. have recently described aberrant oxidative metabolites of 7-dehydrocholesterol (7-DHC) including 3β,5α-dihydroxycholest-7-en-6-one (DHCEO).This group found that the oxidative metabolite DHCEO leads to dysregulated differentiation and arborization of cortical neurons. They suggest that anti-oxidant therapy is a potential therapy for some of the features of SLOS. (Neurobiol Dis. 2012 Mar;45(3):923-9.)

Hilary Vernon, MD PhD

http://dx.doi.org/10.1036/ommbid.289

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