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.
OMMBID Part 30: 255: Rett Syndrome
Posted by Nicola Brunetti-Pierri, MD