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Latest MECP2 Stories

2010-11-17 21:18:03

With few exceptions, jumping genes-restless bits of DNA that can move freely about the genome-are forced to stay put. In patients with Rett syndrome, however, a mutation in the MeCP2 gene mobilizes so-called L1 retrotransposons in brain cells, reshuffling their genomes and possibly contributing to the symptoms of the disease when they find their way into active genes, report researchers at the Salk Institute for Biological Studies. Their findings, published in the November 18, 2010 issue of...

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2010-11-16 10:46:25

A groundbreaking study published Friday in the leading scientific journal, Cell, revealed that a team of investigators had successfully generated nerve cells using skin cells from four individuals with Rett syndrome. The study, funded in part by IRSF, was led by Dr. Alysson Muotri at the University of California, San Diego--a leading researcher in the stem cell field. The article, titled 'A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem...

2010-11-14 00:14:17

One year ago, filmmaker Jason Rem attended an elegant charity event in Los Angeles, at the home of Ann and Jim Gianopulos, held to raise funds for the work of the Rett Syndrome Research Trust. That evening Rem was exposed for the first time to images of the heartbreaking devastation caused by Rett Syndrome, a childhood neurological disorder he had never heard of before. Moved by what he learned Rem decided to make a documentary centered around the families and the cutting-edge science. A...

2010-11-11 22:26:15

The brain works because 100 billion of its special nerve cells called neurons regulate trillions of connections that carry and process information. The behavior of each neuron is precisely determined by the proper function of many genes. In 1999, Baylor College of Medicine researcher Dr. Huda Zoghbi, and her colleagues identified mutations in one of these genes called MeCP2 as the culprit in a devastating neurological disorder called Rett syndrome. In new research in mice published in the...

2010-11-11 18:48:02

The laboratory of Huda Zoghbi, where the discovery that mutations in the gene MECP2 cause the severe childhood neurological disorder Rett Syndrome was made, has taken yet another step toward unraveling the complex epigenetic functions of this gene, implicated also in cases of autism, bipolar disease and childhood onset schizophrenia. The November 11 issue of Nature reports that removing MECP2 from a small group of neurons that typically make the inhibitory neurotransmitter, GABA,...

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2010-11-11 14:50:00

Using induced pluripotent stem cells from patients with Rett syndrome, scientists at the University of California, San Diego School of Medicine have created functional neurons that provide the first human cellular model for studying the development of autism spectrum disorder (ASD) and could be used as a tool for drug screening, diagnosis and personalized treatment. The research, led by Alysson R. Muotri, PhD, assistant professor of pediatrics, will be published in the November 12 issue of...

2010-10-04 23:19:33

Team joins forces to prevent severe complication of Rett Syndrome In a study published today in the Journal, Proceedings of the National Academy of Sciences, an international team of researchers based in the U.S. and UK revealed that they were able to halt the potentially lethal, breath holding episodes associated with the neurological disease Rett syndrome. Rett syndrome is a disorder of the brain that affects around 1 in 10,000 young girls. On October 4, 1999, a groundbreaking study was...

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2010-08-19 11:35:00

Scientists have identified a protein that may bring light to the addictive impact of cocaine on the brain. Researchers said a protein known as methyl CpG binding protein 2 (MeCP2) mixes with a genetic material known as microRNA, which controls a person's motivation to take cocaine. The researchers from the Scripps Research Institute in Florida looked at the expression of MeCP2 in the brain being exposed to cocaine.  During the study, they found the expression was increased in animals...

2010-08-16 14:37:22

When a certain protein is mutated or missing, symptoms of the neurodevelopmental disorder Rett syndrome arise, causing a gradual loss of brain function during early development. This fact led Duke University Medical Center researchers to test a theory that the protein might also contribute to nerve-cell connection (synapse) changes in a fully formed adult mouse brain when exposed to psychostimulant use. In two experiments with mice, Anne West, M.D., Ph.D., an assistant professor of...

2010-08-16 14:25:09

Findings represent additional clues to help predict vulnerability to drug abuse A regulatory protein best known for its role in a rare genetic brain disorder also may play a critical role in cocaine addiction, according to a recent study in rats, funded by the National Institute on Drug Abuse (NIDA), a component of the National Institutes of Health. The study was published today in the journal Nature Neuroscience. Researchers at the Scripps Research Institute in Jupiter, Fla. found that...


Word of the Day
holluschickie
  • A 'bachelor seal'; a young male seal which is prevented from mating by its herd's older males (mated bulls defending their territory).
This comes from the Russian word for 'bachelors.'
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