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Cholesterol metabolism and Rett syndrome pathogenesis

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Rett syndrome is caused by mutations in the gene encoding the transcriptional regulator MECP2. A new study demonstrates that cholesterol homeostasis is disrupted in Mecp2 mutant mice and suggests new therapeutic options for this disease.

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Figure 1: Potential neuronal effects of perturbed cholesterol homeostasis in Mecp2 mutant mice.

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Authors and Affiliations

  1. Gabor Nagy and Susan L. Ackerman are at the Howard Hughes Medical Institute and The Jackson Laboratory, Bar Harbor, Maine, USA.,

    Gabor Nagy & Susan L Ackerman

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  1. Gabor Nagy
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  2. Susan L Ackerman
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Correspondence to Susan L Ackerman.

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The authors declare no competing financial interests.

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Nagy, G., Ackerman, S. Cholesterol metabolism and Rett syndrome pathogenesis. Nat Genet 45, 965–967 (2013). https://doi.org/10.1038/ng.2738

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