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Rett syndrome

HMG-CoA reductase; methyl CpG binding protein 2
(MECP2; RTT); squalene epoxidase (SQLE)

Mouse studies suggest inhibiting cholesterol synthesis could help treat Rett syndrome, which is caused by mutations in MECP2. In a mouse model of Rett syndrome, a heterozygous loss-of-function mutation in Sqle, a key rate-limiting enzyme in cholesterol synthesis, increased survival compared with no mutation. In the mouse model, decreasing cholesterol synthesis with the HMG-CoA reductase inhibitors lovastatin or Lescol fluvastatin decreased Rett syndrome-associated behavioral and metabolic deficits compared with vehicle. Next steps include studies to further elucidate the role of cholesterol metabolism in Rett syndrome and running a clinical trial to determine if the mouse model observations translate into patients.
The generic lovastatin is marketed to treat dyslipidemia and coronary artery disease (CAD).
Novartis AG markets Lescol to treat hypercholesterolemia and prevent cardiovascular disease.

SciBX 6(32); doi:10.1038/scibx.2013.870
Published online Aug. 22, 2013

Provisional patent application filed; available for licensing from Baylor Licensing Group

Buchovecky, C.M. et al. Nat. Genet.; published online July 28, 2013;
Contact: Monica J. Justice, Baylor College of Medicine, Houston, Texas