Rett Syndrome News and Research

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Rett syndrome is a neurological and developmental disorder that mostly occurs in females. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities. For instance, they stop talking even though they used to say certain words. They lose their ability to walk properly. They stop using their hands to do things and often develop stereotyped hand movements, such as wringing, clapping, or patting their hands. Rett syndrome is considered one of the autism spectrum disorders. Most cases of Rett syndrome are caused by a mutation on the MECP2 gene, which is found on the X chromosome.

Rett Syndrome gene discovery

Adrian Bird of the University of Edinburgh and colleagues report in the online issue of Molecular Cell that the "Rett Syndrome protein", MeCP2, only binds to genes with a specific sequence of nucleotide bases. This knowledge will aid in the identification of the genes that are regulated by the gene MECP2

4 Sep 2005

Protein snapin has potential as a drug target in therapies aimed at learning and memory disorders

Rutgers' Bonnie Firestein likens nerve cells to trees -- some are short and bushy with many branches while others are tall with a few branches coming out of one or two main trunks. Different branching patterns correlate with specific disorders and Firestein's quest is to discover how these dissimilar patterns come about and why.

25 Aug 2005

Mouse model of Rett Syndrome displays reduced cortical activity

Sacha Nelson of Brandeis University in Waltham, MA and Rudolf Jaenisch of the Whitehead Institute of Biomedical Research in Cambridge, MA and their colleagues report online in the Proceedings of the National Academy of Sciences Early Edition that spontaneous neuronal activity is reduced in the cortex of a knockout mouse model for the childhood neurodevelopmental disorder, Rett Syndrome.

23 Aug 2005

Some people with autism and large heads may have an increased risk of cancer

A gene that is changed in many forms of cancer has also been found to show similar changes in some forms of autism, according to preliminary research.

7 Apr 2005

DLX5 gene may play a role in the pathology of Rett Syndrome

A research team led by Terumi Kohwi-Shigematsu of the Life Sciences Division of Lawrence Berkeley National Laboratory has identified a gene, DLX5, that may play a role in the pathology of Rett Syndrome, a devastating neurological disorder diagnosed almost exclusively in girls.

20 Dec 2004

Rett Syndrome, the first identified epigenetic disease - linked to specific defects in the three-dimensional folding of chromatin

Sometime between the age of 6 and 18 months, after a period of seemingly normal development, girls affected with Rett Syndrome lose interest in play; they gradually become withdrawn and anxious, develop autistic-like behaviors, and acquire specific symptoms like repetitive teeth-grinding and hand-wringing.

20 Dec 2004

Entirely new approach to the treatment of aging

Dispelling the belief that the only way to treat such conditions is by fixing or replacing damaged genes, they instead focused on the field of epigenetics—the study of changes in gene silencing that occur without changes in the genes themselves.

3 Aug 2004

New research findings in study of Rett Syndrome

Rudolf Jaenisch of the Whitehead Institute of Biomedical Research in Cambridge, MA reports in the April 6, 2004 online issue of the Proceedings of the National Academy of Sciences that introduction of the MeCP2 protein into post-mitotic nerve cells of MeCP2 mutant mice rescues the symptoms of Rett Syndrome. This raises the possibility that neurons are functionally normal in a newborn child and that neural dysfunction manifests itself only later due to prolonged MeCP2 deficiency. If correct, therapeutic strategies aimed at preventing the onset of Rett symptoms could be initiated at birth.

7 Apr 2004

Researchers discover new form of the Rett syndrome protein

Adrian Bird and Skirmantas Kriaucionis of the University of Edinburgh have discovered a novel form of the protein MeCP2. This alternate form, coined MeCP2 alpha, differs from the original only in the first 19 amino acids. Interestingly, Adrian Bird, Director of the Welcome Trust Centre for Cell Biology at Edinburgh University, found that MeCP2 alpha, is ten times more prevalent not only in the brain but also in other tissues. These findings are currently reported online in Nucleic Acids Research. Similar findings were reported yesterday in Nature Genetics online by Berge Minassian, a neurologist and scientist at Toronto's Hospital for Sick Children.

22 Mar 2004