Ontology highlight
ABSTRACT:
SUBMITTER: Samaco RC
PROVIDER: S-EPMC2799790 | biostudies-literature | 2009 Dec
REPOSITORIES: biostudies-literature
Samaco Rodney C RC Mandel-Brehm Caleigh C Chao Hsiao-Tuan HT Ward Christopher S CS Fyffe-Maricich Sharyl L SL Ren Jun J Hyland Keith K Thaller Christina C Maricich Stephen M SM Humphreys Peter P Greer John J JJ Percy Alan A Glaze Daniel G DG Zoghbi Huda Y HY Neul Jeffrey L JL
Proceedings of the National Academy of Sciences of the United States of America 20091209 51
Rett syndrome (RTT) is characterized by specific motor, cognitive, and behavioral deficits. Because several of these abnormalities occur in other disease states associated with alterations in aminergic neurotransmitters, we investigated the contribution of such alterations to RTT pathogenesis. We found that both individuals with RTT and Mecp2-null mice have lower-than-normal levels of aminergic metabolites and content. Deleting Mecp2 from either TH-positive dopaminergic and noradrenergic neurons ...[more]