Rett Syndrome: From Bed to Bench
Rett syndrome (RTT), a neurodevelopmental condition characterized by delayed-onset loss of spoken language and the development of distinctive hand stereotypies, affects approximately 1 in 10,000 live female births. Clinical diagnosis has been based on symptoms such as loss of acquired purposeful han...
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Elsevier
2011-12-01
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| Series: | Pediatrics and Neonatology |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1875957211001185 |
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| author | Shih-Ming Weng Mark E.S. Bailey Stuart R. Cobb |
| author_facet | Shih-Ming Weng Mark E.S. Bailey Stuart R. Cobb |
| author_sort | Shih-Ming Weng |
| collection | DOAJ |
| description | Rett syndrome (RTT), a neurodevelopmental condition characterized by delayed-onset loss of spoken language and the development of distinctive hand stereotypies, affects approximately 1 in 10,000 live female births. Clinical diagnosis has been based on symptoms such as loss of acquired purposeful hand skills, autistic behaviors, motor dysfunctions, seizure disorders, and gait abnormalities. RTT is a genetic disease and is caused almost exclusively by mutations in the X-linked gene, MECP2, to produce a phenotype that is thought to be primarily of neurological origin. Clinical reports show RTT patients to have a smaller brain volume, especially in the cerebral hemispheres, and alterations in various neurotransmitter systems, including acetylcholine, dopamine, serotonin, glutamate, substance P, and various trophic factors. Because of its monogenetic characteristic, disruption of Mecp2 is readily recapitulated in mice to produce a prominent RTT-like phenotype and provide an excellent platform for understanding the pathogenesis of RTT. As shown in human studies, Mecp2 mutants also display subtle alterations in neuronal morphology, including smaller cortical neurons with a higher-packing density and reduced dendritic complexity. Neurophysiological studies in Mecp2-mutant mice consistently report alterations in synaptic function, notably, defects in synaptic plasticity. These data suggest that RTT might be regarded as a synaptopathy (disease of the synapse) and thus potentially amenable to rational therapeutic intervention. |
| format | Article |
| id | doaj-art-720636e9e15e4a4088c4d3379b54eb3d |
| institution | OA Journals |
| issn | 1875-9572 |
| language | English |
| publishDate | 2011-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Pediatrics and Neonatology |
| spelling | doaj-art-720636e9e15e4a4088c4d3379b54eb3d2025-08-20T02:15:54ZengElsevierPediatrics and Neonatology1875-95722011-12-0152630931610.1016/j.pedneo.2011.08.002Rett Syndrome: From Bed to BenchShih-Ming Weng0Mark E.S. Bailey1Stuart R. Cobb2Institute for Neuroscience and Psychology, University of Glasgow, Glasgow, United KingdomSchool of Life Sciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, United KingdomInstitute for Neuroscience and Psychology, University of Glasgow, Glasgow, United KingdomRett syndrome (RTT), a neurodevelopmental condition characterized by delayed-onset loss of spoken language and the development of distinctive hand stereotypies, affects approximately 1 in 10,000 live female births. Clinical diagnosis has been based on symptoms such as loss of acquired purposeful hand skills, autistic behaviors, motor dysfunctions, seizure disorders, and gait abnormalities. RTT is a genetic disease and is caused almost exclusively by mutations in the X-linked gene, MECP2, to produce a phenotype that is thought to be primarily of neurological origin. Clinical reports show RTT patients to have a smaller brain volume, especially in the cerebral hemispheres, and alterations in various neurotransmitter systems, including acetylcholine, dopamine, serotonin, glutamate, substance P, and various trophic factors. Because of its monogenetic characteristic, disruption of Mecp2 is readily recapitulated in mice to produce a prominent RTT-like phenotype and provide an excellent platform for understanding the pathogenesis of RTT. As shown in human studies, Mecp2 mutants also display subtle alterations in neuronal morphology, including smaller cortical neurons with a higher-packing density and reduced dendritic complexity. Neurophysiological studies in Mecp2-mutant mice consistently report alterations in synaptic function, notably, defects in synaptic plasticity. These data suggest that RTT might be regarded as a synaptopathy (disease of the synapse) and thus potentially amenable to rational therapeutic intervention.http://www.sciencedirect.com/science/article/pii/S1875957211001185animal modelMECP2Rett Syndrome |
| spellingShingle | Shih-Ming Weng Mark E.S. Bailey Stuart R. Cobb Rett Syndrome: From Bed to Bench Pediatrics and Neonatology animal model MECP2 Rett Syndrome |
| title | Rett Syndrome: From Bed to Bench |
| title_full | Rett Syndrome: From Bed to Bench |
| title_fullStr | Rett Syndrome: From Bed to Bench |
| title_full_unstemmed | Rett Syndrome: From Bed to Bench |
| title_short | Rett Syndrome: From Bed to Bench |
| title_sort | rett syndrome from bed to bench |
| topic | animal model MECP2 Rett Syndrome |
| url | http://www.sciencedirect.com/science/article/pii/S1875957211001185 |
| work_keys_str_mv | AT shihmingweng rettsyndromefrombedtobench AT markesbailey rettsyndromefrombedtobench AT stuartrcobb rettsyndromefrombedtobench |