Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2010 Apr;12(2):127-34.
doi: 10.1007/s11920-010-0097-7.

The role of MeCP2 in brain development and neurodevelopmental disorders

Michael L Gonzales  1 , Janine M LaSalle
Affiliations
Review

The role of MeCP2 in brain development and neurodevelopmental disorders

Michael L Gonzales et al. Curr Psychiatry Rep. 2010 Apr.

Abstract

Methyl CpG binding protein-2 (MeCP2) is an essential epigenetic regulator in human brain development. Rett syndrome, the primary disorder caused by mutations in the X-linked MECP2 gene, is characterized by a period of cognitive decline and development of hand stereotypies and seizures following an apparently normal early infancy. In addition, MECP2 mutations and duplications are observed in a spectrum of neurodevelopmental disorders, including severe neonatal encephalopathy, X-linked mental retardation, and autism, implicating MeCP2 as an essential regulator of postnatal brain development. In this review, we compare the mutation types and inheritance patterns of the human disorders associated with MECP2. In addition, we summarize the current understanding of MeCP2 as a central epigenetic regulator of activity-dependent synaptic maturation. As MeCP2 occupies a central role in the pathogenesis of multiple neurodevelopmental disorders, continued investigation into MeCP2 function and regulatory pathways may show promise for developing broad-spectrum therapies.

PubMed Disclaimer

Figures

Fig. 1
Fig. 1
Association of neurodevelopmental disorders with specific classes of Methyl CpG binding protein-2 (MeCP2) mutation. The schematic diagram depicts the major MeCP2-based neurodevelopmental disorders and their association with each class of MeCP2 mutation. RTT—Rett syndrome; XLMR—X-linked mental retardation
See this image and copyright information in PMC

References

    1. Hammer S, Dorrani N, Dragich J, et al. The phenotypic consequences of MECP2 mutations extend beyond Rett syndrome. Ment Retard Dev Disabil Res Rev. 2002;8:94–98. doi: 10.1002/mrdd.10023. - DOI - PubMed
    1. Zoghbi HY. MeCP2 dysfunction in humans and mice. J Child Neurol. 2005;20:736–740. - PubMed
    1. Girard M, Couvert P, Carrie A, et al. Parental origin of de novo MECP2 mutations in Rett syndrome. Eur J Hum Genet. 2001;9:231–236. doi: 10.1038/sj.ejhg.5200618. - DOI - PubMed
    1. Trappe R, Laccone F, Cobilanschi J, et al. MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin. Am J Hum Genet. 2001;68:1093–1101. doi: 10.1086/320109. - DOI - PMC - PubMed
    1. Amir RE, Van den Veyver IB, Wan M, et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl- CpG-binding protein 2. Nat Genet. 1999;23:185–188. doi: 10.1038/13810. - DOI - PubMed

MeSH terms

Substances