TY - JOUR
T1 - The Story of Rett Syndrome
T2 - From Clinic to Neurobiology
AU - Chahrour, Maria
AU - Zoghbi, Huda Y.
N1 - Funding Information:
We would like to thank Sharyl Fyffe, Dr. Jeffrey Neul, Dr. Melissa Ramocki, and Rodney Samaco for their thoughtful comments. H.Y.Z. is supported by grants from the Howard Hughes Medical Institute, the National Institutes of Health grant HD053862, the Rett Syndrome Research Foundation, and the Simons Foundation.
PY - 2007/11/8
Y1 - 2007/11/8
N2 - The postnatal neurodevelopmental disorder Rett syndrome (RTT) is caused by mutations in the gene encoding methyl-CpG binding protein 2 (MeCP2), a transcriptional repressor involved in chromatin remodeling and the modulation of RNA splicing. MECP2 aberrations result in a constellation of neuropsychiatric abnormalities, whereby both loss of function and gain in MECP2 dosage lead to similar neurological phenotypes. Recent studies demonstrate disease reversibility in RTT mouse models, suggesting that the neurological defects in MECP2 disorders are not permanent. To investigate the potential for restoring neuronal function in RTT patients, it is essential to identify MeCP2 targets or modifiers of the phenotype that can be therapeutically modulated. Moreover, deciphering the molecular underpinnings of RTT is likely to contribute to the understanding of the pathogenesis of a broader class of neuropsychiatric disorders.
AB - The postnatal neurodevelopmental disorder Rett syndrome (RTT) is caused by mutations in the gene encoding methyl-CpG binding protein 2 (MeCP2), a transcriptional repressor involved in chromatin remodeling and the modulation of RNA splicing. MECP2 aberrations result in a constellation of neuropsychiatric abnormalities, whereby both loss of function and gain in MECP2 dosage lead to similar neurological phenotypes. Recent studies demonstrate disease reversibility in RTT mouse models, suggesting that the neurological defects in MECP2 disorders are not permanent. To investigate the potential for restoring neuronal function in RTT patients, it is essential to identify MeCP2 targets or modifiers of the phenotype that can be therapeutically modulated. Moreover, deciphering the molecular underpinnings of RTT is likely to contribute to the understanding of the pathogenesis of a broader class of neuropsychiatric disorders.
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U2 - 10.1016/j.neuron.2007.10.001
DO - 10.1016/j.neuron.2007.10.001
M3 - Review article
C2 - 17988628
AN - SCOPUS:35648978121
SN - 0896-6273
VL - 56
SP - 422
EP - 437
JO - Neuron
JF - Neuron
IS - 3
ER -