Journal
JOURNAL OF CLINICAL INVESTIGATION
Volume 125, Issue 8, Pages 2914-2923Publisher
AMER SOC CLINICAL INVESTIGATION INC
DOI: 10.1172/JCI78167
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Funding
- National Institute of Neurological Disorders and Stroke [NS057819]
- Rett Syndrome Research Trust
- International Rett Syndrome Foundation
- Howard Hughes Medical Institute
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [R01NS057819] Funding Source: NIH RePORTER
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Two severe, progressive neurological disorders characterized by intellectual disability, autism, and developmental regression, Rett syndrome and MECP2 duplication syndrome, result from loss and gain of function, respectively, of the same critical gene, methyl-CpG binding protein 2 (MECP2). Neurons acutely require the appropriate dose of MECP2 to function properly but do not die in its absence or overexpression. Instead, neuronal dysfunction can be reversed in a Rett syndrome mouse model if MeCP2 function is restored. Thus, MECP2 disorders provide a unique window into the delicate balance of neuronal health, the power of mouse models, and the importance of chromatin regulation in mature neurons. In this Review, we will discuss the clinical profiles of MECP2 disorders, the knowledge acquired from mouse models of the syndromes, and how that knowledge is informing current and future clinical studies.
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