Rett Syndrome News

Rett Syndrome Awareness

2011-01-31T07:45:00.000-08:00

Create your own video slideshow at animoto.com.

Special Successes over Autism: Autism-Rett Syndrome Connection

2011-01-10T04:49:00.000-08:00

Special Successes over Autism: Autism-Rett Syndrome Connection: "This is a continuation of my previous post: Understanding Autism-“The” Causes. In the last paragraph, I mentioned that the types of r..."

New Rett Video Channel

2011-01-07T03:38:00.000-08:00

A new video channel on YouTube by Rett girl

Clinical trial for Rett syndrome launched

2010-12-17T08:47:00.000-08:00

Study marks the emergence of disease-modifying treatments for autism spectrum disorders

December 16, 2010

Boston, Mass. -- Researchers at Children's Hospital Boston have begun a randomized, placebo-controlled trial to test a potential drug treatment for Rett syndrome, the leading known genetic cause of autism in girls. The drug, mecasermin, a synthetic form of insulin-like growth factor-1 (IGF-1), is already FDA-approved for children with short stature due to IGF-1 deficiency.

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Rett Syndrome Video Channel: The Premier Place for Rett Syndrome Videos

2010-12-14T07:23:00.000-08:00

Rett Syndrome Video Channel: The Premier Place for Rett Syndrome Videos

Researchers created autistic nerve cells

2010-12-14T07:16:00.000-08:00

A multi-institution research project led by Alysson R. Muotri of the University of California, San Diego, has created a cellular model to aid study of a form of autism.

Read the article.

Woman With Rett Finds Her Voice Through Music

2010-04-09T11:22:00.000-07:00

Health Watch 10 Series - Rett Syndrome

2010-03-26T08:43:00.000-07:00

Read the article and watch the video

Help fundraising efforts

2010-03-25T00:43:00.000-07:00

Vote for the RSRT

Sponsor Andy Stevenson

Karly's CD is ready: In My Own Voice

2010-03-20T05:56:00.000-07:00

Read her blog.

Buy the CD.

UK to Netherlands Charity Cycle Ride

2010-03-20T05:46:00.000-07:00

A charity cycle is being organised by one of our members in collaboration with Rett UK and Rett NL to as raise money and awareness for Rett syndrome.

Rett syndrome is a rare neurological disorder affecting mainly females and very few males. People with Rett syndrome have profound and multiple physical and learning disabilities and are totally reliant on others for support throughout their lives.

The charity ride is scheduled to take place from 3rd - 6th September starting from UK and riding to Utrecht (Netherlands).

The ride is hoping to attract 100 cyclists (50 from each country) to take part in any of the 3 'legs'. 10 out of the 50 UK cyclists will get the opportunity to do the complete leg, whilst 40 will complete the UK leg only.

Looking set to create great media attention, book your places now for this fantastic charity cycle.

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Tourette's? No thanks one Rett is enough.

2010-03-16T09:11:00.000-07:00

Read the article about 13 year old Rett girl Elaina.

SeizureTracker.com

2010-02-13T07:57:00.000-08:00

SeizureTracker.com - Free online tools to provide people living with epilepsy and their doctors with a better understanding of the relationship between seizure activity and anti-epileptic medication dosages. Reports generated on SeizureTracker.com include detail graphing capabilities and are easily sharable with caregivers.

Translational Research Award Funding To Test Potential Therapeutics For Rett Syndrome

2010-01-30T11:46:00.000-08:00

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Vote for Rett syndrome

2010-01-07T01:02:00.000-08:00

Go to Extraordinary Measures
and vote for REVERSE RETT SYNDROME.

Rett's Angels girls beat bad weather

2009-12-31T02:36:00.000-08:00

Eight families from across Kent braved snow and ice to take part in Lorraine Hockey's fifth annual Christmas Party for Rett's Angels.
It is held for girls suffering from Rett Syndrome which makes them unable to walk or talk.
Lorraine's own daughter Cassie, 17, suffers from the illness.

Mum-of-two Lorraine, 53, who lives in Hodgson Road, Seasalter, and runs Jaguar Carpets in Herne Bay with her husband Keith, said: "Our volunteer harpist could not make it because of bad weather and I was worried nobody would show on Saturday.
"But eight families did. They came from as far as Bexleyheath, Deal and Maidstone.
"Ironically, Seasalter remained remarkably untouched by the bad weather although I had hired a snow machine specially!"

The gathering is usually held at Whitstable's Horsebridge Centre but switched to the Seasalter Christian Centre to save costs.

The event was helped by donations from Ward and Partners, the Co-operative Society and the Whitstable Carnival Committee. Entertainment was provided by jugglers from Kent Circus School.
A specially-edited DVD of the parties is to be launched in the new year to show sponsors where their money goes and to attract new supporters.
Rett's Angels has already been adopted by women members of Herne Bay Golf Club as its charity of the year. It provides support for sufferers and their families.

Rett Syndrome is a neurological disease which affects one in 10,000 children, usually girls, which has led to the name Rett's Angels. Sufferers lose the ability to walk and talk and have to be cared for as if they are babies.

Source: thisiskent.co.uk

Rett symptoms stem from gene loss in cells that make specific neurotransmitters

2009-12-08T14:07:00.000-08:00

Read the article

Vote for Rett syndrome

2009-11-27T12:23:00.000-08:00

Rett Syndrome most disabling of all the autistic disorders

2009-10-14T05:43:00.000-07:00

Read the letter

Strong evidence for significant longevity of Rett syndrome patients

2009-10-09T06:37:00.000-07:00

Read the article.

October is Rett Syndrome Awareness month

2009-09-25T06:41:00.000-07:00

Rett Syndrome Astrocytes Are Abnormal and Spread MeCP2 Deficiency through Gap Junctions

2009-05-25T01:32:00.000-07:00

MECP2, an X-linked gene encoding the epigenetic factor methyl-CpG-binding protein-2, is mutated in Rett syndrome (RTT) and aberrantly expressed in autism. Most children affected by RTT are heterozygous Mecp2–/+ females whose brain function is impaired postnatally due to MeCP2 deficiency. While prior functional investigations of MeCP2 have focused exclusively on neurons and have concluded the absence of MeCP2 in astrocytes, here we report that astrocytes express MeCP2, and MeCP2 deficiency in astrocytes causes significant abnormalities in BDNF regulation, cytokine production, and neuronal dendritic induction, effects that may contribute to abnormal neurodevelopment. In addition, we show that the MeCP2 deficiency state can progressively spread at least in part via gap junction communications between mosaic Mecp2–/+ astrocytes in a novel non-cell-autonomous mechanism. This mechanism may lead to the pronounced loss of MeCP2 observed selectively in astrocytes in mouse Mecp2–/+ brain, which is coincident with phenotypic regression characteristic of RTT. Our results suggest that astrocytes are viable therapeutic targets for RTT and perhaps regressive forms of autism.

Source: The Journal Of Neuroscience

New insight into Rett syndrome severity

2009-04-20T11:42:00.000-07:00

A research collaboration between Australia and Israel has identified a genetic variation that influences the severity of symptoms in Rett syndrome.
The finding is published in the latest edition of the international journal Neurology.

Dr Helen Leonard, who heads the Australian Rett Syndrome Study at the Telethon Institute for Child Health Research, said the finding was exciting in that it identifies a potential new target for treatment of the debilitating neurological disorder.
"We know that there is a wide range in the onset and severity of symptoms in patients with Rett syndrome but it has been difficult to give families a firm idea of how the disorder would progress," Dr Leonard said.
"This information is potentially helpful in predicting the clinical progression, but importantly, gives us another area to explore for potential therapies."

In the study, clinical information and DNA samples were gathered from 125 patients from the Australian Rett Syndrome Database and an Israeli cohort coordinated by Dr Bruria Ben Zeev at the Safra Pediatric Hospital, Sheba Medical Centre, Sackler School of Medicine, Tel Aviv. The genetic testing was undertaken by Professor John Christodoulou, from the NSW Centre for Rett Syndrome Research at the Children's Hospital at Westmead in Sydney and Dr Eva Gak from the Sagol Neuroscience Center at the Sheba Medical Centre.
Professor Christodoulou said while it has been established that Rett syndrome is caused by mutations in the MECP2 gene, these new findings have established a correlation between the severity of clinical symptoms and a common brain-derived neurotrophic factor (BDNF) polymorphism.

"Those patients with the normal BDNF genetic variant had less severe symptoms, with later onset and frequency of seizures," Dr Christodoulou said.
"We know that BDNF plays a major role in the development, survival and function of brain cells. What we now have to establish is the nature of the interaction between MECP2 and BDNF."
"It may be that if we can stimulate BDNF within patients with Rett syndrome, there is a chance that we can delay the onset of seizures and reduce some of the more debilitating aspects of the disorder."

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Rett gene in amygdala linked to fear and learning

2009-04-17T13:16:00.000-07:00

Deleting the gene associated with Rett syndrome from the amygdala region of mouse brains triggers anxiety and problems with learning and memory, according to research published today in the Journal of Neuroscience 1.

Researchers at the University of Texas Southwestern Medical Center at Dallas selectively deleted the MeCP2 gene, mutations in which cause Rett syndrome, from the amygdala — a clustering of cells in the brain that regulates the processing of emotions — of 3- to 5-month-old mice.

These mice, which express roughly 50 percent of normal MeCP2 levels in the amygdala, freeze when placed in a maze task routinely used to assess anxiety, the researchers found. The mice also have trouble remembering to anticipate a brief shock after an auditory tone — a task that control mice learn and remember after two tries — suggesting that MeCP2 regulates fear-dependent learning and memory.

Rett syndrome is a rare neurodevelopmental disorder that predominantly affects girls, and is characterized by distinctive hand movements, abnormal gait, seizures and mental retardation. Girls with the syndrome also often show features of autism, including anxiety, deficits in social skills and repetitive behavior.

Intriguingly, mice lacking MeCP2 in the amygdala show normal patterns of social interaction. “We were sort of surprised because it does suggest you can separate out anxiety from social interaction deficits,” says lead investigator Lisa Monteggia.

“For autism spectrum disorder, one of the most debilitating aspects is the social deficit,” Monteggia says. “So if we go back to other brain regions, could we recapitulate the social interaction deficits?”

A research team led by Huda Zoghbi in 1999 first linked mutations in the MeCP2 gene to Rett syndrome2, but the gene’s exact role is still unknown. Last year, the same group reported that the gene is a master regulator, controlling the activation and repression of thousands of other genes3.

Because MeCP2 is found throughout the body, it has been difficult to tease apart its contribution to the collection of symptoms seen in Rett syndrome. For example, mice that don’t have any MeCP2 are normal until 5 weeks of age, when they begin to develop Rett-like symptoms, and then die between 6 and 12 weeks of age4.

“When this protein is missing everywhere in the brain, the animals are so sick that you may miss hidden phenotypes,” Zoghbi says. “By looking at the gene just in specific areas, you might be able to learn the symptoms emanating from those specific brain regions.”

Regional deletions:
In 2001, Rudolf Jaenisch and colleagues created mice that lack the gene in the forebrain, a large region of the brain that includes the amygdala and performs a gamut of functions from sensory processing to memory, beginning at postnatal day 14, when neuronal connections are actively forming.

Monteggia’s group showed in 2006 that these mice have a broad array of Rett-like symptoms, including anxiety, learning and memory problems, deficits in motor coordination and social deficits5. The researchers then decided to focus specifically on the amygdala because anxiety, learning and memory tasks are regulated by the region.

Because some of Rett’s symptoms, including difficulty breathing and sleeping and elevated response to stress, implicate the hypothalamus, Zoghbi and her colleagues in September 2008 selectively deleted MeCP2 from the mouse hypothalamus and found that the mice are more aggressive and tend to eat more than do control littermates6.

In the new study, Monteggia and her colleagues also exposed normal mice to a histone deacetylase inhibitor — a chemical that enhances gene expression — and found that these normal mice and the MeCP2-deficient mice show similar behavioral deficits.

“To us, it suggested that these behavioral processes that we think MeCP2 is involved in were mediated through transcriptional repression,” Monteggia says.

Deletions from specific brain regions allow researchers to dissociate different brain functions that might involve different brain regions, says Mriganka Sur, chief of brain and cognitive sciences at the Massachusetts Institute of Technology. Still, to treat Rett syndrome, it will be important to intervene broadly in the brain, he notes.

Sur and his colleagues have found that treating mice that lack MeCP2 throughout the brain with insulin-like growth factor 1, a chemical that improves cell survival and maturation, improves the lifespan and locomotor activity7. The growth factor also strengthens connections between neurons, which is likely to be relevant to MeCP2’s role in regions like the amygdala.

“To my mind [the new study] argues that the MeCP2 gene is really involved in the kind of function that we postulated,” says Sur, “that MeCP2 is involved in synaptic maturation and regulating plasticity.”

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European Rett Syndrome Congress, June 5-7, Milan, Italy

2009-04-04T05:37:00.000-07:00

1st European Congress on Rett Syndrome - Università degli Studi di Milano, June 5-7, 2009

Rett Syndrome is a rare disease which springs from a genetic mutation of a specific gene, the MECP2, and provokes severe problems to the "girls with beautiful eyes", including neurological disfunctions in movement and development of the brain, cardiac problems, gastric disfunctions and many others.

We need your help to substain AIR (Associazione Italiana Sindrome di Rett) and RSE (Rett Syndrome Europe) and divulgate the results of recent researches on the disease.
Please help us make Rett Syndrome a studied and well-known disease, registering to the congress and bringing your contribution through submittance of an abstract through the web site www.aimgroup.it/29009/airett.

AIR
RSE
The Organizing Secretariat

Click here to download the files.

Rett gene plays crucial role in glia

2009-04-04T05:32:00.001-07:00

Study says Rett gene's role in glia, not neurons, crucial to syndrome

MECP2, the gene that causes the autism-related Rett syndrome, is expressed not just in neurons but in glia — cells that support neurons and help process information — in the brain, according to a study published online in the March issue of Nature Neuroscience 1.

What’s more, it’s MeCP2’s loss from these glia, and not from neurons, that appears to be important in causing the disorder. Glia make up roughly 90 percent of cells in the nervous system, and are thought to be crucial for the survival and maturation of neurons.

Rett syndrome is a rare neuro-developmental disorder that affects girls within the first 18 months of life. Beginning with delayed growth and speech, the disorder progresses and, as a result of severe impairments in motor function, often leaves girls wheelchair-bound by their early 20s.

A decade ago, Huda Zoghbi and her team first linked mutations in MeCP2 to the disorder2. Mutations in the same gene, which has been found to activate and repress thousands of other genes, are also found in people with learning disabilities, mental retardation and autism.

Several studies of Rett syndrome had reported MeCP2’s presence in neurons, but not in glia3. But a few years ago, some researchers began looking closer at the gene’s expression in glia because it is present in many other non-neuronal cell types — such as fibroblasts and muscle cells — outside the brain, says Nurit Ballas.

Ballas, who conducted the work as a research associate in the lab of Gail Mandel, is now associate professor of chemistry and cell biology at Stony Brook University in New York.

“I thought, ‘Why would I not see [MeCP2] in glia?’” Ballas recalls. She decided to use a sensitive antibody and a new way of staining for the protein that could enhance the signal.

Diverse locations:
She and her colleagues found that MeCP2 is present in all types of healthy mouse glia, including astrocytes — star-shaped cells that help regulate a neuron’s chemical environment — and oligodendrocytes, which form a protective sheath over neurons. In contrast, the protein is not detectable in the glia of mouse models of Rett syndrome.

Neurons cultured on a bed of astrocytes taken from Rett mice also have fewer and shorter dendrites — the long fibers of neurons that receive signals — compared with neurons cultured on healthy astrocytes.

Conversely, adding healthy astrocytes to neurons that lack MeCP2 restores the growth of dendrites in those neurons.

“To me the biggest surprise came from the fact that an astrocyte that doesn’t have this protein is compromised in its capacity to support neurons,” says Zoghbi, a Howard Hughes Medical Institute Investigator at the Baylor College of Medicine in Houston.

Even the astrocyte-conditioned medium — a nutrient broth secreted by astrocytes that can normally support neuron growth in culture — from the Rett mice stunts proper development of neurons.

The researchers are trying to selectively eliminate MeCP2 from mouse astrocytes and other glia in order to determine the relative roles of these cells in triggering Rett syndrome.

“We also want to know what the factors are in the media that astrocytes are secreting, and whether that plays a role in Rett,” Mandel says.

Because MeCP2 normally controls the expression of many genes, the lack of a functional MeCP2 in these astrocytes could stunt the neurons’ growth by somehow altering the chemical milieu in a neuron’s environment, the authors note.

“If it is true that the astrocytes are secreting a toxic inhibitory factor,” Mandel adds, “then that’s a point of potential pharmaceutical intervention.”

Zie http://sfari.org/news/study-says-rett-gene-s-role-in-glia-not-neurons-crucial-to-syndrome

A possible treatment for Rett syndrome

2009-02-11T12:28:00.000-08:00

Study suggests molecule can reverse some symptoms
CAMBRIDGE, Mass.— A molecule that promotes brain development could serve as a possible treatment for Rett syndrome, the most common form of autism in girls, according to researchers at MIT's Picower Institute for Learning and Memory and the Whitehead Institute for Biomedical Research.
The researchers found that injecting the molecule into mice that have an equivalent of Rett syndrome helped the animals' faulty brain cells develop normally and reversed some of the disorder's symptoms.
The work, reported in the Feb. 10 online edition of the Proceedings of the National Academy of Sciences (PNAS), is expected to lead to new human clinical trials for a derivative of growth factor-1 (IGF-1), currently used to treat growth disorders and control blood glucose. The MIT study indicates that IGF-1 could potentially lessen the severity of symptoms of Rett syndrome.
"We demonstrate that a major underlying mechanism behind Rett syndrome in mice is that synapses in the brain remain immature and show persistent, abnormal plasticity into adulthood," said Daniela Tropea, a postdoctoral fellow at the Picower Institute and lead author of the study. "We also propose that a therapeutic based on this mechanism would be directly applicable to humans."
Injecting mice with a peptide fragment of IGF-1, used by the brain for neuronal and synaptic development, reverses a large number of symptoms of mice genetically engineered to display Rett syndrome-like symptoms.
"IGF-1 is critical for brain development. It activates molecules within neurons that make synapses mature," said study co-author Mriganka Sur, the Newton Professor of Neuroscience at the Picower Institute and head of the MIT Department of Brain and Cognitive Sciences. "This is a mechanism-based therapeutic for Rett syndrome. It is possible that this or similar therapeutics would apply to other forms of autism, which also have as their basis a persistent immaturity of synapses."
HELPING NERVE CELLS MATURE
Rett syndrome, an inherited neurological disorder, causes loss of speech, reduced head size, breathing and heart abnormalities and autism-like symptoms in one out of 10,000 girls.
In 85 percent of girls with Rett syndrome, the culprit is a faulty gene coding for methyl CpG-binding protein 2, (MeCP2), critical for nerve cell maturation. A deficit in MeCP2 stops neurons from growing spines, the branch-like projections needed for cell-to-cell communication.
Recent genetic studies have shown that increasing MeCP2 expression in mice led neurons to grow new spines, indicating that the disease could be reversible. Increased IGF-1 seems to make up for the lack of MeCP2.
Daily injections of the insulin-like growth factor IGF-1 extended the life spans of infant Rett syndrome mice, improved their motor function and breathing patterns and reduced irregularities in their heart rates. In addition, their brains had more nerve-cell spines.
IGF-1 affects almost every cell in the human body, especially in muscle, cartilage, bone, liver, kidney, nerves, skin and lungs. In addition to its insulin-like effects, IGF-1 also regulates cell growth and development in nerve cells.
"This is the first realistic way for a drug-like molecule injected into the bloodstream to relieve Rett syndrome symptoms," said Whitehead member Rudolf Jaenisch, whose lab participated in the research.

ScienceDaily

Exercise could improve brain disorder

2008-12-24T04:26:00.000-08:00

Mental and physical exercise could help improve symptoms of young girls suffering from the devastating brain disorder Rett syndrome, tests on lab rats suggest.
A discovery by Melbourne brain scientists offers hope that enriching the environment of Rett patients could slow the progression of coordination and movement problems when used alongside drug therapy.
Professor Anthony Hannan from the Howard Florey Institute said the find was preliminary and still needed to be verified in humans but could one day bring relief to the children and their parents.
"This is a very severe disorder, both physically and mentally, so it's not as simple as just get these girls moving," Prof Hannan said.
"The idea is if you had a drug that showed enough improvement to get one of these girls out of their wheelchair and moving then the increased mental and physical activity could boost the drug's effect even more.
"That could dramatically reduce symptoms, and might even reverse them."
Rett syndrome is caused by a single gene mutation on the X chromosome, almost exclusively affecting girls who are normal at birth but undergo severe mental and physical regression after six months.
There are no effective treatments or cures for the disease.
The researchers bred mice with the mutation to test the impact of an enriched environment, which has already proven beneficial in people with Huntington's and Alzheimer's diseases.
Half of the Rett syndrome mice were given a range of mazes, toys and exercise equipment to stimulate them both mentally and physically.
"We found that the ones in a normal environment have very severe problems with their coordination and movement," Prof Hannan said.
"But the ones with enrichment were just like their litter mates without the mutation."
Interestingly, they also found that a special brain chemical called BDNF, which is usually low in Rett mice, was at a normal level in those whose environment had been "enriched".
The researchers hope the molecule and others yet to be discovered could become targets for drug therapies to use alongside the stimulation treatment.
"The next step is for us to look at the effects of environmental enrichment on anxiety and cognition in the mice, as these are common problems in Rett syndrome," he said.
Source: European Journal of Neuroscience.

Reciprocal co-regulation of EGR2 and MECP2 is disrupted in Rett syndrome and autism

2008-12-14T07:00:00.000-08:00

Mutations in MECP2, encoding methyl-CpG-binding protein 2 (MeCP2), cause the neurodevelopmental disorder Rett syndrome (RTT).While MECP2 mutations are rare in idiopathic autism, reduced MeCP2 levels are common in autism cortex. MeCP2 is critical for postnatal neuronal maturation and a modulator of activity-dependent genes such as Bdnf and JUNB.The activity-dependent early growth response gene 2 (EGR2), required for both early hindbrain development and mature neuronal function, has predicted binding sites in the promoters of several neurologically relevant genes including MECP2. Conversely, MeCP2 family members MBD1, MBD2 and MBD4 bind a methylated CpG island in an enhancer region located in EGR2 intron 1. This study was designed to test the hypothesis that MECP2 and EGR2 regulate each other's expression during neuronal maturation in postnatal brain development. Chromatin immunoprecipitation analysis showed EGR2 binding to the MECP2 promoter and MeCP2 binding to the enhancer region in EGR2 intron 1. Reduction of EGR2 and MeCP2 levels in cultured human neuroblastoma cells by RNA interference reciprocally reduced expression of both EGR2 and MECP2 and their protein products. Consistent with a role for MeCP2 in enhancing EGR2, Mecp2-deficient mouse cortex samples showed significantly reduced EGR2 by quantitative immunofluorescence. Furthermore, MeCP2 and EGR2 show coordinately increased levels during postnatal development of both mouse and human cortex. In contrast to age-matched controls, RTT and autism postmortem cortex samples showed significant reduction of EGR2. Together, these data support a role for dysregulation of an activity-dependent EGR2/MeCP2 pathway in RTT and autism.

Source: http://hmg.oxfordjournals.org/cgi/content/short/ddn380v1