Pharmacological Treatment of Rett Syndrome With Statins

Condition:   Rett SyndromeIntervention:   Drug: LovastatinSponsors:   Montefiore Medical Center;   Rett Syndrome Research TrustRecruiting - verified September 2015
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials

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Previous studies provided evidence for the alteration of brain cholesterol homeostasis in 129.Mecp2-null mice, an experimental model of Rett syndrome. The efficacy of statins in improving motor symptoms and prolonging survival of mutant mice suggested a potential role of statins in the therapy of Rett syndrome. In the present study, we show thatMecp2 deletion had no effect on brain and reduced serum cholesterol levels and lovastatin (1.5 mg/kg, twice weekly as in the previous study) had no effects on motor deficits and survival whenMecp2 deletion was expressed on a background strain (C57BL/6J; B6) differing from that used ...
Source: eLife - Category: Biomedical Science Tags: 24S-hydroxycholesterol cholesterol metabolism genetic background lovastatin Mecp2 Mouse Neuroscience Rett syndrome Source Type: research
Rett syndrome (RTT; OMIM 312750), a progressive neurological disorder, is caused by mutations in methyl-CpG-binding protein 2 (MECP2; OMIM 300005), a ubiquitously expressed factor. A genetic suppressor screen designed to identify therapeutic targets surprisingly revealed that downregulation of the cholesterol biosynthesis pathway improves neurological phenotypes in Mecp2 mutant mice. Here, we show that MeCP2 plays a direct role in regulating lipid metabolism. Mecp2 deletion in mice results in a host of severe metabolic defects caused by lipid accumulation, including insulin resistance, fatty liver, perturbed energy utiliza...
Source: Human Molecular Genetics - Category: Genetics & Stem Cells Authors: Tags: ARTICLES Source Type: research
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