Researchers find differences in swallowing mechanism of Rett syndrome patients Aug 5, 2008
Rett syndrome is a childhood neurodevelopmental disorder caused by mutations in the gene MECP2 located on the X chromosome. It is the only Autism spectrum disorder with a known genetic cause and is characterized by normal early development followed by loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, walking abnormalities, seizures, and mental retardation. (EurekAlert!)
Family nightmare recurs Jul 6, 2008
MECP2 duplication syndrome has no known cure ... The couple, from Belmont near Newcastle, hope experimental trials under way in the United States and Europe may lead to the discovery of a drug to reverse or neutralise the duplicate MECP2 gene, which causes autistic-like traits, low-muscle tone, mental retardation, absence of speech, progressive spasticity, seizures and respiratory infections ... Pediatrician Don Anderson said more Australian families with MECP2 duplication may now be discovered.... (Sydney Morning Herald -- Australia)
Environmental enrichment for Rett Jun 28, 2008
Rett syndrome is a severe mental disability affecting girls, caused by a mutation in the MeCP2 gene, located on the X chromosome. Boys with the mutation usually die in utero or shortly after birth, as they have no normal copy of the gene. (Australian Life Scientist)
Mental And Physical Exercise Improves Genetic Mental Impairment In Rett Syndrome Jun 24, 2008
ScienceDaily (June 23, 2008) Australian scientists have shown that mental and physical exercise can improve coordination and movement problems in Rett syndrome, a devastating genetic brain development disorder that primarily affects females. Using a mouse model of Rett syndrome developed by the Children's Medical Research Institute in Sydney, researchers from the Howard Florey Institute in Melbourne found these mice responded positively to the effects of environmental enrichment. (Science Daily)
Rett Syndrome Gene Is Full Of Surprises Jun 2, 2008
Rett syndrome is caused by a deficiency of the MECP2 gene ... Having extra copies of MECP2 can also cause Rett-like symptoms ... By manipulating the number of copies of the MECP2 gene in mice, the authors of the new study found that it controls thousands of other genes, suppressing some, but activating most. (Science Daily)
What causes developmental disabilities in children? May 2, 2008
Recently, a specific gene MECP2 located on the X chromosome, was identified in children with this syndrome. Rett occurs in fewer than one in 10,000 births. (West Roxbury Transcript, MA)
Uncommon Types of Autism Jan 18, 2008
Studies into Rett s Disorder have been able to confirm that there is a mutation in the gene MECP2 located on the X chromosome. No such genetic link has been found in individuals with CDD. Research will continue in the hopes of bettering the lives of families affected by these two uncommon types of autism. (Suite101.com)
A token of gratitude Dec 11, 2007
According to the Web site , RS, which is found almost exclusively in females, is caused by a mutation in the MECP2 gene on the X chromosome. The MECP2 gene is responsible for turning off or regulating the activity of other genes. (Logan Herald Journal, UT)
Brain Needs Perfection In Synapse Number Oct 8, 2007
Now, researchers at Baylor College of Medicine in Houston have determined that the protein MeCP2 (methyl-CpG binding protein 2), is critical to fine-tuning the number of synapses. In a report that appears in today's issue of the journal Neuron, they said that too little MeCP2, as in the neurodevelopmental disorder Rett syndrome, or too much MeCP2, can result in mental retardation, problems with gait or spasticity and symptoms of autism ... In fact, a common underlying theme in the autism... (Science Daily)
Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets Jun 21, 2007
MeCP2, methyl-CpG-binding protein 2, binds to methylated cytosines at CpG dinucleotides, as well as to unmethylated DNA, and affects chromatin condensation. MECP2 mutations in females lead to Rett syndrome, a neurological disorder characterized by developmental stagnation and regression, loss of purposeful hand use and speech, stereotypic hand movements, deceleration of brain growth, autonomic dysfunction and seizures ... Located at Xq28, MECP2 is subject to X inactivation, and affected females... (BioMed Central)
A local family valiantly struggles with daughter's illness Mar 9, 2007
In 1999, it was discovered that a mutation in a gene known as MECP2, which is located on the X chromosome, is the cause of Rett Syndrome ... Researchers had found a way to "turn off" the MECP2 gene in mice, the gene that is known to cause Rett Syndrome ... By restoring the MECP2 gene in these mice, the "disease" was not only stopped, its effects were ac-tually reversed. (Naragansett Times, RI)
9-year-old is only fourth in state with Rett syndrome Feb 28, 2007
The problem gene, known as MECP2, wasn't identified until 1990 by molecular biologist Adrian Bird. It wasn't until 1999 that scientists at the Baylor College of Medicine discovered that mutated forms of the gene cause Rett syndrome. (Anchorage Daily News)
Gene hope for brain disease Feb 13, 2007
The Edinburgh University team say symptoms disappeared in mice after the faulty gene MECP2, which is responsible for the disease, was replaced with a fully functional version, even curing rodents just days from death ... " The discovery even surprised the scientists involved, including UK Rett Syndrome Research Foundation chairman professor Adrian Bird. "Like many other people, we expected that giving MECP2 to mice that were already sick would not work," Prof Bird said. "The idea that you could... (Melbourne Herald Sun)
Hope Raised for Reversing Severe Childhood Disease Feb 13, 2007
In a study appearing on Thursday in the journal Science, researchers led by Adrian Bird of the University of Edinburgh in Scotland switched on a gene called MECP2 in mice with the equivalent of Rett syndrome to make their symptoms vanish ... The disease, first described by an Austrian doctor in 1966, is caused by mutations in the MECP2 gene ... The MECP2 gene holds instructions for making a protein that acts as one of many biochemical switches that prompt other genes to turn off and stop... (MEDLINEplus)
Hope for girls with autismlike disease Feb 12, 2007
What goes awry: a gene called MECP2 that is supposed to switch off other genes involved in the maturation of neurons. When MECP2 shuts off in Rett syndrome, girls' brain cells don't die, but they don't keep developing ... But "the work is really beautiful," said Dr. Uta Francke of Stanford University, a co-discoverer of MECP2 gene who has studied and cared for Rett patients for 20 years. (Seattle Times)
Reversal of Fortune: Researchers Erase Symptoms of Autism Spectrum Disorder Feb 11, 2007
In 1999 Huda Zoghbi, a specialist in pediatric neurological disorders at Baylor College of Medicine in Dallas, found that RS was likely caused by a mutation in the gene Mecp2, located on the X chromosome. Mecp2 had been discovered nine years earlier by molecular biologist Adrian Bird of the University of Edinburgh in Scotland ... Bird and his colleagues created mutant mice with a roadblock in the Mecp2 gene that prevented it from being expressed. (Scientific American)
Scientists Reverse Autism-like Symptoms In Genetic Mouse Model Of Rett Syndrome Feb 10, 2007
Caused by mutations in the gene MECP2, RTT affects primarily girls, striking at random in early childhood and destroying speech, normal movement and functional hand use ... Restoration of fully functional MECP2 over a four week period eradicated tremors and normalized breathing, mobility and gait in mice that had previously been fully symptomatic and, in some cases, only days away from death ... "Like many other people, we expected that giving MeCP2 to mice that were already sick would not... (Science Daily)
Study raises hope for Rett syndrome cure Feb 10, 2007
What goes awry: a gene called MECP2 that is supposed to switch off other genes involved in the maturation of neurons. When MECP2 shuts off in Rett syndrome, girls' brain cells don't die, but they don't keep developing ... First the Scottish researchers switched off MECP2 in male mice by inserting a chemical roadblock into the gene that they could switch on and off with medication. (Herald Online, SC -- Health)
Brain disorder 'reversible' Feb 9, 2007
The research focused on the behaviour of the MECP2 gene that causes the condition to develop. When the gene was activated in mice which had been born with MECP2 switched off, disease symptoms such as breathing and mobility problems stopped ... Researcher Dr Stuart Cobb said: "This breakthrough provides a small piece of hope for sufferers. "It had been thought the disorder was caused by abnormal development - but activating the MECP2 gene, even in adulthood, proved to be effective in reversing... (BBC News -- Health)
New Insight About The Source Of Anxiety In Rett Syndrome Dec 29, 2006
The mouse model of Rett was developed in Zoghbi's laboratory where scientists also found that a mutation in the gene MeCP2 (methyl-CpG-binding protein 2) causes the disorder ... "MeCP2 is a master regulator of other genes, like a foreman in a factory," said Bryan E. McGill, a BCM M.D./Ph ... "Considered by itself, it cannot tell you about the molecular changes that lead to the phenotype (symptoms) we see in the children. Our goal has been to find the intermediaries in the process. We want to... (Science Daily)
New Findings May Lead To Treatment For Anxiety In Rett Syndrome Nov 18, 2006
A majority of girls with RTT, which is caused by mutations in the gene MECP2, display elevated stress hormones measured by urinary cortisol levels ... These MeCP2308 mice, so called because they bear a mutant version of the MeCP2 protein that is truncated prematurely (at amino acid 308), have numerous characteristics that mimic human RTT. They appear to be healthy early on in life, but within several weeks of birth develop tremors, spasticity, seizures, and begin to display impairments in social... (Science Daily)
Insights into activity-dependent neuronal growth through RSRF-supported research Oct 21, 2006
Brain-derived neurotrophic factor (BDNF) has been a subject of keen interest in neuroscientific circles for several years, turning up in studies of conditions ranging from central hypoventilation syndrome to obsessive-compulsive disorder, depression, bipolar disorder and schizophrenia -- a range of disorders uncannily parallel to those produced by mutations in the "Rett gene," MeCP2. In 2003, two groups found that MeCP2 regulates BDNF transcription, but sorting out the complex relationship... (EurekAlert!)
How Rett Syndrome Mutation Targets The Brain Oct 20, 2006
Researchers had traced the RTT's cause to mutations in the gene for methyl-CpG-binding protein 2 (MeCP2)--a protein found in tissues throughout the body that regulates many target genes by repressing their activity. The gene for MeCP2 is found on the X chromosome, which is why females, with two X chromosomes, are far more likely to suffer from RTT than are males ... In their new studies, reported in the October 19, 2006, issue of the journal Neuron, published by Cell Press, Michael Greenberg and... (Science Daily)
Silence Of The Amoebae: Scientists Render A Disease-causing Pathogen Harmless Sep 3, 2006
(September 4, 2005) -- Adrian Bird of the University of Edinburgh and colleagues report today in the online issue of Molecular Cell that the "Rett Syndrome protein", MeCP2, only binds to genes with a specific sequence of. . (Science Daily)
New study reveals Rett syndrome can strike males Aug 9, 2006
About Rett syndrome Rett syndrome (RTT) is a neurological disorder often misdiagnosed as autism, cerebral palsy or non-specified developmental delay caused by a defective regulatory MECP2 gene found on the X chromosome ... Because males lack a "backup" copy of the X chromosome that can compensate for a defective one, flaws in MECP2 are often lethal to the male fetus. (EurekAlert!)
Gene Mutations Responsible For Rett Syndrome In Females Present Sporadically In Males Jul 14, 2006
A study published in the journal Neurology reports four sporadic occurrences of MECP2 gene mutations in infant males with progressive encephalopathy. RTT is an X-linked neurodevelopmental disorder that is caused by mutations in the MECP2 gene and is characterized by stagnation of development followed by regression ... In an international collaboration, researchers from the United States and Australia identified and evaluated four non-familial, sporadic occurrences of MECP2 gene mutations. (Science Daily)
Research Links Rett Syndrome To Mitochondrial Gene Jun 24, 2006
RTT, which is an autism-spectrum disorder, is caused by mutations in a gene called MECP2. Previous research has shown that the protein made by MECP2 is a master controller of other genes, turning them on and off, and scientists have been searching for these genes ... To find other genes that MECP2 controls, Bird, Kriaucionis, and other colleagues turned to male mice in which MECP2 has been knocked out , meaning they lack the protein completely. (Science Daily)
New Findings Help Pinpoint Autism's Genetic Roots May 5, 2006
Her investigation of the role of a gene called MeCP2 in mediating autistic-like behavior has been published recently in the journals Biological Psychiatry and Current Biology. Mutations in MeCP2 occur in a pervasive developmental disorder called Rett syndrome, a human disease that shares many clinical features with autism ... Mutations in MeCP2 also have been identified in autism patients. (Science Daily)
