Dr. Huda Zoghbi agve a great lecture on “Neurobiology of Rett syndrome and related disorders” in June 2009 for the National Institute of Health. parts of the one-hour lecture are technical but much of it in plain language. The lecture does a great job of describing how MECP2 Duplication Syndrome was discovered and some of the similarities and differences between MECP2 Duplication Syndrome. Its well worth watching.
You may need real player if you don’t already have it. You can stream it to your browser or download it. Because of its format, I can’t embed it here but you can find it at http://videocast.nih.gov/summary.asp?file=15179 and download it or watch it from there. Here is the abstract:
Rett syndrome is a postnatal developmental disorder characterized by stagnation of normal development and loss of acquired skills by 12-18 months of age. Although Rett syndrome is sporadic in over 99% of the cases, it is a genetic disorder caused by mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MeCP2). Loss of MeCP2 function in ~50% of neurons (due to random X chromosome inactivation [XCI]), causes classic Rett syndrome which is characterized by loss of language and social interaction skills, cognitive impairment, balance problems, seizures, tremors, stereotyped repetitive hand movements, and autonomic dysfunction. Girls with favorable XCI patterns manifest only partial features of the syndrome and may present with either classic autism or mild mental retardation with or without seizures and tremors. Doubling of MeCP2 levels also causes a progressive neurological syndrome that shows overlapping features with Rett syndrome. The use of accurate genetic models of Rett and the duplication syndrome is providing insight about the pathogenic effects of MeCP2 dysfunction. Data demonstrating the mechanism underlying the duplication phenotype, the role of MeCP2 in specific neurons, and the transcriptional alterations resulting from MeCP2 dysfunction will be presented.