PRESS-NEWS.org - Press Release Distribution
PRESS RELEASES DISTRIBUTION

Early training delays symptom onset in mouse model of Rett syndrome

2021-03-24
(Press-News.org) New scientific findings bring hope that early training during the presymptomatic phase could help individuals with Rett syndrome, a neurodevelopmental disorder, retain specific motor and memory skills and delay the onset of the condition. Researchers at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital reported in the journal Nature that, in a mouse model of Rett syndrome, intensive training beginning before symptoms appear dramatically improved the performance of specific motor and memory tasks and substantially delayed the appearance of symptoms. The researchers propose that newborn genetic testing for Rett syndrome, followed by prompt intensive training in the skills that will be affected, such as gait/balance, manual dexterity and communication, may alter the course of the condition in ways that would improve the patients' quality of life and prepare them for later therapies. "Years ago, I decided to study Rett syndrome because it struck me as a neurological condition like no other I had seen before," said corresponding author Dr. Huda Zoghbi, Ralph D. Feigin, M.D. Endowed Chair and professor of molecular and human genetics, pediatrics and neuroscience at Baylor. Zoghbi also is the director of the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital. Rett syndrome is a rare, devastating neurological disorder that results in varying degrees of mental and motor disability, primarily in girls. There are no effective treatments. "What I saw with Rett syndrome was that girls with the condition were born looking like any other healthy baby and developed as expected during their first year," said Zoghbi, an investigator at the Howard Hughes Medical Institute and a member of Baylor's Dan L Duncan Comprehensive Cancer Center. "However, when the girls reached one or two years of age, they gradually lost the skills they had developed - they began to have trouble walking and with balance, slowly lost their ability to communicate and started to wring their hands constantly. The condition then stabilizes, but the girls remain disabled for the rest of their lives." In a 1999 report, the Zoghbi lab was the first to show that mutations in the X-linked gene MECP2 cause Rett syndrome. Since then, the lab has continued not only to improve our understanding of this complex condition, but also, as in the current report, to provide hope through research that opens new possibilities to improve the lives of girls with the syndrome. Early training delays onset of symptoms Although there is no current effective treatment for Rett syndrome, previous work from the Zoghbi lab has shown that deep brain stimulation (DBS) can correct in animal models some of the symptoms, such as deficits in learning and memory. However, each symptom requires a specific DBS treatment, which implies that implementing this approach to treat the syndrome would be difficult. Thinking along the lines of mimicking DBS, but in a less invasive way, the researchers investigated whether early intense training in specific tasks before the symptoms appeared would change the normal progression of the condition. Supporting this idea, studies in autism spectrum disorders (ASD), a condition that shares some symptoms with Rett syndrome, has shown that behavioral training can improve motor and cognitive skills in young children with ASD. The researchers worked with Rett mice, a mouse model of Rett syndrome in which females lack one of the two Mecp2 genes, testing the effect of intensive training in a motor coordination task - walking forward on a rotating rod - on Rett syndrome progression. "We show that there is a critical window in early life when intensive behavioral training significantly improves behavioral deficits. Mice that started their training early, weeks before symptom onset, dramatically improved their performance on that specific motor task when compared with Rett mice that did not train," said first author Nathan P. Achilly, a student in Baylor's M.D./Ph.D. program in Developmental Biology working in the Zoghbi lab. "Importantly, we also learned that early training substantially delayed the onset of symptoms and that starting training after the symptoms appeared did not improve the performance." Benefits are training-specific "Intriguingly, training on a particular motor task did not have the same effect on other symptoms of the syndrome, such as learning and memory problems," Zoghbi said. "The mice only improved in what they had trained for." When the researchers provided early training on memory tasks, the mice showed improvement on those tasks, and not others, when compared with Rett mice without training. The early intense training also delayed the appearance of memory and learning difficulties in these mice. "We also discovered that the origin of this benefit arises from the repetitive activation of task-specific neurons," Achilly said. Experiments revealed that task-specific neurons that are repeatedly activated during training develop more dendritic arbors or cellular projections that enable them to form and maintain neuronal circuits that enhance their functionality and delay symptom onset. Task-specific neurons of untrained animals, which showed normal progression of the condition, did not show changes in arborization. "Our findings lead us to propose that newborn genetic testing for Rett syndrome, followed by prompt intensive training in the tasks that will be affected, could help the girls retain specific milestones and delay the onset of symptoms," Zoghbi said.

INFORMATION:

Wei Wang, at Baylor and the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, also contributed to this work. This project was supported by NIH grant U54HD083092, NIH/National Institutes of Neurological Disorders and Stroke grant 5R01NS057819-13, NIH/National Institute of Child Health and Human Development grant F30HD097871-01 and the Henry Engel Fund.



ELSE PRESS RELEASES FROM THIS DATE:

Liver cancer: which patients benefit from immunotherapy?

2021-03-24
Immunotherapy using checkpoint inhibitors is effective in around a quarter of patients with liver cancer. However, to date, physicians have been unable to predict which patients would benefit from this type of treatment and which would not. Researchers from the German Cancer Research Center have now discovered that liver cancer caused by chronic inflammatory fatty liver disease does not respond to this treatment. On the contrary: in an experimental model, this type of immunotherapy actually promoted the development of liver cancer, as now reported in the journal Nature. Liver cancer is the sixth most common type of cancer in the world, ...

Semiconductor qubits scale in two dimensions

Semiconductor qubits scale in two dimensions
2021-03-24
The heart of any computer, its central processing unit, is built using semiconductor technology, which is capable of putting billions of transistors onto a single chip. Now, researchers from the group of Menno Veldhorst at QuTech, a collaboration between TU Delft and TNO, have shown that this technology can be used to build a two-dimensional array of qubits to function as a quantum processor. Their work, a crucial milestone for scalable quantum technology, was published today in Nature. Quantum computers have the potential to solve problems that are impossible to address with classical computers. Whereas current ...

New sequencing approach finds triple-negative breast cancers continue accumulating genetic changes during tumor growth

New sequencing approach finds triple-negative breast cancers continue accumulating genetic changes during tumor growth
2021-03-24
HOUSTON ? Overcoming previous technical challenges with single-cell DNA (scDNA) sequencing, a group led by researchers at The University of Texas MD Anderson Cancer Center has developed a novel method for scDNA sequencing at single-molecule resolution. This technique revealed for the first time that triple-negative breast cancers undergo continued genetic copy number changes after an initial burst of chromosome instability. The findings, published today in Nature, offer an accurate and efficient new approach for sequencing hundreds of individual cancer cells while also providing novel insights into cancer evolution. These insights may explain why treatments are ...

Vaccination against mutated protein tested in brain tumor patients for the first time

2021-03-24
Joint press release by the German Cancer Research Center, University Medicine Mannheim, Heidelberg University Hospital, and the National Center for Tumor Diseases (NCT) Heidelberg Tumor vaccines can help the body fight cancer. Mutations in the tumor genome often lead to protein changes that are typical of cancer. A vaccine can alert the patients' immune system to these mutated proteins. For the first time, physicians and cancer researchers from Heidelberg and Mannheim have now carried out a clinical trial to test a mutation-specific vaccine against malignant brain tumors. The vaccine proved to be safe and triggered the desired immune response in the tumor tissue, as the team now reports in the journal Nature. Diffuse ...

Nanoparticle flu vaccine blocks seasonal and pandemic strains

2021-03-24
Researchers have developed experimental flu shots that protect animals from a wide variety of seasonal and pandemic influenza strains. The vaccine product is currently being advanced toward clinical testing. If proven safe and effective, these next-generation influenza vaccines may replace current seasonal options by providing protection against many more strains that current vaccines do not adequately cover. A study detailing how the new flu vaccines were designed and how they protect mice, ferrets, and nonhuman primates appears in the March 24 edition of the journal Nature. This work was led by researchers at the University of Washington School of Medicine and the Vaccine Research Center part of the National Institute of Allergy ...

School-based telehealth connects underserved kids to quality and sustainable health care

School-based telehealth connects underserved kids to quality and sustainable health care
2021-03-24
Many children of low-income families across the country do not have access to quality health care. Lack of health care can have a domino effect, affecting educational outcomes in the classroom. School-based telehealth could offer a sustainable and effective solution, according to a new report in the Journal for Nurse Practitioners by Kathryn King Cristaldi, M.D., the medical director of the school-based telehealth program, and Kelli Garber, the lead advanced practice provider and clinical integration specialist for the program. The program through the MUSC Health Center for Telehealth has effectively served over 70 schools across the state of South Carolina. Evaluating a child at school via telehealth ...

Can the right probiotic work for breast milk-fed babies?

2021-03-24
Probiotics -- those bacteria that are good for your digestive tract -- are short-lived, rarely taking residence or colonizing the gut. But a new study from researchers at the University of California, Davis, finds that in breast milk-fed babies given the probiotic B. infantis, the probiotic will persist in the baby's gut for up to one year and play a valuable role in a healthy digestive system. The study was published in the journal Pediatric Research. "The same group had shown in a previous study that giving breast milk-fed babies B. infantis had beneficial effects that lasted up to 30 days after supplementation, but this is the first study to show persistent colonization up to 1 year of age," said lead author Jennifer Smilowitz with the UC Davis Department ...

Fatty liver hepatitis is caused by auto-aggressive immune cells

2021-03-24
Non-alcoholic steatohepatitis (NASH), often called 'fatty liver hepatitis', can lead to serious liver damage and liver cancer. A team of researchers at the Technical University of Munich (TUM) has discovered that this condition is caused by cells that attack healthy tissue - a phenomenon known as auto-aggression. Their results may help in the development of new therapies to avoid the consequences of NASH. Fatty liver disease (NASH) is often associated with obesity. However, our understanding of the causes has been very limited. A team working with ...

New study finds false memories can be reversed

2021-03-24
Rich false memories of autobiographical events can be planted - and then reversed, a new paper has found. The study highlights - for the first time - techniques that can correct false recollections without damaging true memories. It is published by researchers from the University of Portsmouth, UK, and the Universities of Hagen and Mainz, Germany. There is plenty of psychological research which shows that memories are often reconstructed and therefore fallible and malleable. However, this is the first time research has shown that false memories of autobiographical events can be undone. Studying how memories are created, identified ...

Bilingual infants prefer baby talk, especially when it's one of their native languages

Bilingual infants prefer baby talk, especially when its one of their native languages
2021-03-24
Infants prefer baby talk in any language, but particularly when it's in a language they're hearing at home. A unique study of hundreds of babies involving 17 labs on four continents showed that all babies respond more to infant-directed speech -- baby talk -- than they do to adult-directed speech. It also revealed that babies as young as six months can pick up on differences in language around them. "We were able to compare babies from bilingual backgrounds to babies from monolingual backgrounds, and what seemed to matter the most was the match between the language they ...

LAST 30 PRESS RELEASES:

Process for dealing with sexual misconduct by doctors requires major reform

Severe pregnancy sickness raises risk of mental health conditions by over 50%

Early humans may have walked from Türkiye to mainland Europe, new groundbreaking research suggests

New study shows biochar’s electrical properties can influence rice field methane emissions

Guangdong faces largest chikungunya outbreak on record

Tirzepatide improves blood sugar control in children aged 10-17 years with type 2 diabetes inadequately controlled on existing therapies (SURPASS-PEDS trial)

An old drug, in a low dose, shown to be safe and effective in preventing progression of type 1 diabetes in children and young people (MELD-ATG trial)

Study reports potential effects of verapamil in slowing progression of type 1 diabetes

Fresh hope for type 1 diabetes as daily pill that slows onset confirms promise at 2-year follow-up

New estimates predict over 4 million missing people who would be alive in 2025 if not for inadequate type 1 diabetes care

So what should we call this – a grue jay?

Chicago Quantum Exchange-led coalition advances to final round in NSF Engine competition

Study identifies candidates for therapeutic targets in pediatric germ cell tumors

Media alert: The global burden of CVD

Study illuminates contributing factors to blood vessel leakage

What nations around the world can learn from Ukraine

Mixing tree species does not always make forests more drought-resilient

Public confidence in U.S. health agencies slides, fueled by declines among Democrats

“Quantum squeezing” a nanoscale particle for the first time

El Niño spurs extreme daily rain events despite drier monsoons in India

Two studies explore the genomic diversity of deadly mosquito vectors

Zebra finches categorize their vocal calls by meaning

Analysis challenges conventional wisdom about partisan support for US science funding

New model can accurately predict a forest’s future

‘Like talking on the telephone’: Quantum computing engineers get atoms chatting long distance

Genomic evolution of major malaria-transmitting mosquito species uncovered

Overcoming the barriers of hydrogen storage with a low-temperature hydrogen battery

Tuberculosis vulnerability of people with HIV: a viral protein implicated

Partnership with Kenya's Turkana community helps scientists discover genes involved in adaptation to desert living

Decoding the selfish gene, from evolutionary cheaters to disease control

[Press-News.org] Early training delays symptom onset in mouse model of Rett syndrome