Rett Syndrome

Reward Affects Motor Function in Rett

Source: 
Simons Foundation Autism Research Institute
Date Published: 
January 10, 2014
Abstract: 

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.

Cholesterol connection to Rett Syndrome

Source: 
Nature Genetics
Date Published: 
July 28, 2013
Abstract: 

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.

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

Source: 
Nature Neuroscience
Date Published: 
June 16, 2013
Abstract: 

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.

Researchers Swing Toward Monkey Models of Autism

Source: 
SFARI
Date Published: 
October 18, 2012
Abstract: 

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.

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

Source: 
UNC School of Medicine
Date Published: 
June 6, 2012
Abstract: 

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.

Bone-marrow Transplant Reverses Rett Syndrome in Mice

Source: 
Nature Magazine
Date Published: 
March 17, 2012
Abstract: 

A bone-marrow transplant can treat a mouse version of Rett syndrome, a severe autism spectrum disorder that affects roughly 1 in 10,000–20,000 girls born worldwide (boys with the disease typically die within a few weeks of birth).

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

Source: 
Science Daily
Date Published: 
January 27, 2012
Abstract: 

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.

Modeling Autism in a Dish

Source: 
Medical News Today
Date Published: 
November 12, 2010
Abstract: 

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.

Testing Autism Drugs in Human Brain Cells

Source: 
MIT Technology Review
Date Published: 
November 12, 2010
Abstract: 

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.

Inhibitory Neurons Key to Understanding Neuropsychiatric Disorders

Source: 
Science Daily
Date Published: 
November 11, 2010
Abstract: 

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.