Cholesterol metabolism is altered in Rett syndrome

Posted by & filed under Part 30: MULTISYSTEM INBORN ERRORS OF DEVELOPMENT.

Monica Justice and colleagues identified a mutation in Sqle encoding squalene epoxidase, a rate-limiting enzyme in cholesterol biosynthesis, that suppresses the phenotype of Mecp2-null mice, a model of Rett syndrome. They also showed that lipid metabolism is perturbed in the brains and livers of Mecp2-null male mice. Importantly, statin drugs improve systemic perturbations of lipid metabolism, alleviate motor symptoms and confer increased longevity in Mecp2 mutant mice.

http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.2714.html

OMMBID Part 30: 255: Rett Syndrome

Posted by Nicola Brunetti-Pierri, MD

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