Research by Topic: Rett Syndrome

ASF podcast summarizes the NIH workshop on regression

Published February 23, 2016

On Friday, February 19, the NIH organized a workshop on regression in autism.  It included autism researchers as well as neurobiologists studying regression in other disorders, specifically Rett Syndrome.  Rett Syndrome is characterized by a regression in symptoms around 18-30 months of age but is the result of a known genetic mutation.  Because the genetic mutation […]

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Reward Affects Motor Function in Rett

Published January 10, 2014 in Simons Foundation Autism Research Institute

The motor problems seen in Rett syndrome may be the result of deficits in a pathway that mediates reward in the striatum, a brain region that coordinates movement, according to a study published in Brain Structure and Function. Studies have shown that loss of MeCP2 in the front of the brain is sufficient to lead to Rett-like symptoms in mice. The forebrain includes the striatum, which integrates information from other brain regions to help plan and coordinate movement. The new study found that mice that model Rett syndrome have significantly less dopamine a chemical messenger that mediates reward in the striatum than controls do. The study suggests that changes in dopamine levels influence neural circuits in the striatum that regulate motor function.

http://sfari.org/news-and-opinion/in-brief/2014/molecular-mechanisms-reward-affects-motor-function-in-rett

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Cholesterol connection to Rett Syndrome

Published July 28, 2013 in Nature Genetics

Professor Monica Justice has written a study on a connection between cholesterol and Rett Syndrome. Statin drugs, known to lower cholesterol, were shown to increase mobility, overall health scores, and lifespan in mice with Rett Syndrome.

http://www.ncbi.nlm.nih.gov/pubmed/?term=A+suppressor+screen+in+Mecp2+mutant+mice+implicates+cholesterol+metabolism+in+Rett+syndrome

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Studies Show Key Steps of How Mutations to the MeCP2 Gene Cause Rett Syndrome

Published June 16, 2013 in Nature Neuroscience

Two collaborative papers reveal the key steps of how mutations to the MeCP2 gene cause Rett Syndrome by impairing the interaction between MeCP2 and the NCoR/SMRT co-repressor.

http://www.ncbi.nlm.nih.gov/pubmed/23770565

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Researchers Swing Toward Monkey Models of Autism

Published October 18, 2012 in SFARI

Scientists reveal efforts to create transgenic monkey models of autism. Compared to mice and rats, these animals are more genetically similar to humans, and display more complex social and communicative behaviors.

http://sfari.org/news-and-opinion/conference-news/2012/society-for-neuroscience-2012/researchers-swing-toward-monkey-models-of-autism

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Seizures in Angelman Syndrome Could be Linked to an Imbalance in Brain Activity

Published June 6, 2012 in UNC School of Medicine

Researchers led by Dr. Ben Philpot, an ASF funded mentor, at UNC School of Medicine found that seizures in individuals with Angelman syndrome could be linked to an imbalance in brain cell activity. Angelman syndrome exhibits frequent comorbidity with autism spectrum disorders.

http://news.unchealthcare.org/news/2012/june/brain-cell-activity-imbalance-may-account-for-seizure-susceptibility-in-angelman-syndrome

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Bone-marrow Transplant Reverses Rett Syndrome in Mice

Published March 17, 2012 in Nature Magazine

A bone-marrow transplant can treat a mouse version of Rett syndrome, a severe autism spectrum disorder that affects roughly 1 in 10,00020,000 girls born worldwide (boys with the disease typically die within a few weeks of birth).

Bone-marrow transplant reverses Rett syndrome in mice

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Brain-Derived Neurotrophic Factor: Finding May Have Implications for Rett Syndrome, Other Neurological Disorders

Published January 27, 2012 in Science Daily

Researchers at Oregon Health & Science University have discovered that a molecule critical to the development and plasticity of nerve cells — brain-derived neurotrophic factor (BDNF) — is severely lacking in brainstem neurons in mutations leading to Rett syndrome, a neurological developmental disorder.

Brain-Derived Neurotrophic Factor: Finding May Have Implications for Rett Syndrome, Other Neurological Disorders

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Modeling Autism in a Dish

Published November 12, 2010 in Medical News Today

A collaborative effort between researchers at the Salk Institute for Biological Studies and the University of California, San Diego, successfully used human induced pluripotent stem (iPS) cells derived from patients with Rett syndrome to replicate autism in the lab and study the molecular pathogenesis of the disease.

http://www.medicalnewstoday.com/articles/207664.php

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Testing Autism Drugs in Human Brain Cells

Published November 12, 2010 in MIT Technology Review

A team from the University of California, San Diego, and the Salk Institute for Biological Studies devised a way to study brain cells from patients with autism, and found a way reverse cellular abnormalities in neurons that have been associated with autism, specifically Rett Syndrome.

http://www.technologyreview.com/biomedicine/26702/

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Inhibitory Neurons Key to Understanding Neuropsychiatric Disorders

Published November 11, 2010 in Science Daily

In 1999, Baylor College of Medicine researcher Dr. Huda Zoghbi and her colleagues identified mutations in the gene called MECP2 as the culprit in a devastating neurological disorder called Rett syndrome . In new research in mice published in the current issue of the journal Nature, Zoghbi and her colleagues demonstrate that the loss of the protein MeCP2 in a special group of inhibitory nerve cells in the brain reproduces nearly all Rett syndrome features.

http://www.sciencedaily.com/releases/2010/11/101110131155.htm

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A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells

Published November 1, 2010 in Cell, Marchetto et al

Autism spectrum disorders (ASD) are complex neurodevelopmental diseases in which different combinations of genetic mutations may contribute to the phenotype. Using Rett syndrome (RTT) as an ASD genetic model, we recapitulate early stages of a human neurodevelopmental disease, using induced pluripotent stem cells (iPSCs) from RTT patients' fibroblasts, which essentially creates a "disease in a […]

http://www.cell.com/abstract/S0092-8674(10)01186-4

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Preventing Life Threatening Breathing Disorder of Rett Syndrome

Published October 5, 2010 in Medical News Today

A group of researchers at the University of Bristol have sequestered the potentially fatal breath holding episodes associated with the autistic-spectrum disorder Rett syndrome. Using a unique combination of drugs, they have discovered that the area of the brain that allows breathing to persist throughout life without interruption has reduced levels of a transmitter substance called aminobutyric acid.

http://www.medicalnewstoday.com/articles/203458.php

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Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice

Published February 1, 2009 in PNAS, Sur, Tropea, Giacometti, et al.

Rett Syndrome (RTT) is a severe form of X-linked mental retardation caused by mutations in the gene coding for methyl CpG-binding protein 2 (MECP2). Mice deficient in MeCP2 have a range of physiological and neurological abnormalities that mimic the human syndrome. Here we show that systemic treatment of MeCP2 mutant mice with an active peptide […]

http://www.pnas.org/content/106/6/2029.short

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MeCP2, A Key Contributor to Neurological Disease, Activates and Represses Transcription

Published December 31, 1969 in Science, Chahrour, Jung et al

Mutations in the gene encoding the transcriptional repressor methyl-CpG binding protein 2 (MeCP2) cause the neurodevelopmental disorder Rett syndrome. Loss of function as well as increased dosage of the MECP2 gene cause a host of neuropsychiatric disorders. To explore the molecular mechanism(s) underlying these disorders, we examined gene expression patterns in the hypothalamus of mice […]

http://www.ncbi.nlm.nih.gov/pubmed/18511691

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