Work

Reversal of Neurological Defects in a Mouse Model of Rett Syndrome

Year: 2007

Type: article

Abstract: Rett syndrome is an autism spectrum disorder caused by mosaic expression of mutant copies of the X-linked MECP2 gene in neurons. However, neurons do not die, which suggests that this is not a neurodegenerative disorder. An important question for future therapeutic approaches to this and related disorders concerns phenotypic reversibility. Can viable but defective neurons be repaired, or is the damage done during development without normal MeCP2 irrevocable? Using a mouse model, we demonstrate robust phenotypic reversal, as activation of MeCP2 expression leads to striking loss of advanced neurological symptoms in both immature and mature adult animals.

Source: Science

DOI: 10.1126/science.1138389

Authors: Jacky Guy, Jian Gan, Jim Selfridge, Stuart Cobb, Adrian Bird

Institutions: Wellcome Centre for Cell Biology, University of Glasgow

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funder: Wellcome Trust