Diseases 2014, 2(1), 45-70; doi:10.3390/diseases2010045

MeCP2-Related Diseases and Animal Models

Regenerative Medicine Program, Department of Biochemistry and Medical Genetics, Faculty of Medicine, University of Manitoba, 745 Bannatyne Avenue, Winnipeg, Manitoba, R3E 0J9, Canada
* Author to whom correspondence should be addressed.
Received: 6 December 2013; in revised form: 19 January 2014 / Accepted: 20 January 2014 / Published: 27 January 2014
(This article belongs to the Special Issue Feature Papers)
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Abstract: The role of epigenetics in human disease has become an area of increased research interest. Collaborative efforts from scientists and clinicians have led to a better understanding of the molecular mechanisms by which epigenetic regulation is involved in the pathogenesis of many human diseases. Several neurological and non-neurological disorders are associated with mutations in genes that encode for epigenetic factors. One of the most studied proteins that impacts human disease and is associated with deregulation of epigenetic processes is Methyl CpG binding protein 2 (MeCP2). MeCP2 is an epigenetic regulator that modulates gene expression by translating epigenetic DNA methylation marks into appropriate cellular responses. In order to highlight the importance of epigenetics to development and disease, we will discuss how MeCP2 emerges as a key epigenetic player in human neurodevelopmental, neurological, and non-neurological disorders. We will review our current knowledge on MeCP2-related diseases, including Rett Syndrome, Angelman Syndrome, Fetal Alcohol Spectrum Disorder, Hirschsprung disease, and Cancer. Additionally, we will briefly discuss about the existing MeCP2 animal models that have been generated for a better understanding of how MeCP2 impacts certain human diseases.
Keywords: MeCP2; DNA methylation; Rett Syndrome; Autism Spectrum Disorders, Fetal Alcohol Spectrum Disorders; Rheumatoid arthritis; animal models

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MDPI and ACS Style

Ezeonwuka, C.D.; Rastegar, M. MeCP2-Related Diseases and Animal Models. Diseases 2014, 2, 45-70.

AMA Style

Ezeonwuka CD, Rastegar M. MeCP2-Related Diseases and Animal Models. Diseases. 2014; 2(1):45-70.

Chicago/Turabian Style

Ezeonwuka, Chinelo D.; Rastegar, Mojgan. 2014. "MeCP2-Related Diseases and Animal Models." Diseases 2, no. 1: 45-70.

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