MeCP2 Mutation and Rett Syndrome
Yalda Sadeghian1, Özge Çağlar1,2, Elif Özyılmaz3, Oytun Erbaş1,4
1ERBAS Institute of Experimental Medicine, Illinois, USA & Gebze, Turkey
2Department of Chemistry, Selçuk University, Faculty of Science, Konya, Turkey
3Department of Biochemistry, Selçuk University, Faculty of Science, Konya, Turkey
4Department of Physiology, Medical Faculty of Demiroğlu Bilim University, Istanbul, Turkey
Keywords: Methyl-CpG-binding protein2, MeCP2E1, MeCP2E2, nervous system, Rett syndrome
Abstract
Methyl-CpG-binding protein 2 (MeCP2) is a gene important for brain function and is one of the most common causes in RTT (Rett syndrome) cases to encode a protein with the same name. This condition, which is more common in females and rare in men, is caused by the X chromosome and manifests itself as mental retardation. RTT develops normally in girls during their first 6 to 18 months of infancy, but the disease's symptoms spread over time. After a period, most RTT patients lose their mobility and are more prone to acquire Parkinson's disease (PD) as they age. RTT does not have a cure, although its symptoms can be controlled. The link of RTT with the MeCP2 gene as a significant neurological condition, as well as numerous treatment techniques explored, were discussed in this article.
Cite this article as: Sadeghian Y, Çağlar Ö, Özyılmaz E, Erbaş O. MeCP2 Mutation and Rett Syndrome. JEB Med Sci 2021;2(2):133-138.
The authors declared no conflicts of interest with respect to the authorship and/or publication of this article.
The authors received no financial support for the research and/or authorship of this article.