Neurobiology of Rett Syndrome and Related Disorders |
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| Air date: | Wednesday, June 17, 2009, 3:00:00 PM Time displayed is Eastern Time, Washington DC Local |
| Category: | Wednesday Afternoon Lectures |
| Description: | 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 The NIH Director's Wednesday Afternoon Lecture Series includes weekly scientific talks by some of the top researchers in the biomedical sciences worldwide. |
| Author: | Dr. Huda Zoghbi, Baylor College of Medicine |
| Runtime: | 60 minutes |
| Download: | Download
Video How to download a Videocast |
| CIT File ID: | 15179 |
| CIT Live ID: | 7051 |
| Permanent link: | http://videocast.nih.gov/launch.asp?15179 |
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Enhanced Audio Podcast | 1:07:08 |
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Enhanced Video Podcast | 1:07:08 | |