(Press-News.org) A group of researchers at the University of Bristol have sequestered the potentially fatal breath holding episodes associated with the autistic-spectrum disorder Rett syndrome.
Rett syndrome is a developmental disorder of the brain that affects around 1 in10,000 young girls. One of the worse clinical disorders is the intermittent episodes of breath holding, putting the patient at risk of asphyxiation and further brain damage. Other disorders include repetitive hand movements, digestive and bowel problems, seizures, learning disability with lack of verbal skills and social withdrawal, making it a thoroughly debilitating disease.
However, an international team of researchers based at Bristol's School of Physiology & Pharmacology have discovered a way to prevent these episodes of breath holding in a mouse model of Rett syndrome. Using a unique combination of drugs, they have discovered that the area of the brain that allows breathing to persist throughout life without interruption has reduced levels of a transmitter substance called aminobutyric acid.
Professor Julian Paton, who co-led the research, said: "These findings make a significant step in our understanding of the reasons why breathing is intermittent in Rett syndrome and give exciting hope for the future for alleviating young girls from these awful life threatening episodes of breath holding, which they experience regularly throughout the day."
This autistic condition is caused by a spontaneous mutation in the gene that encodes for methyl-CpG-binding protein 2 or MeCP2. MeCP2 is very abundant in the brain and is a transcription factor that decodes DNA essential for making proteins in brain cells.
The researchers found that by increasing both the amount of aminobutyric acid (a vital brain signalling substance) and stimulating a specific type of serotonin receptor within the brain to suppress the activity of brain cells that normally depress inhalation, this abolished the life threatening episodes of breathing arrests.
"These exciting findings are particularly relevant since the drugs we used already have approval for use in humans to treat other illnesses, so the hope is that our findings can soon be translated across to sufferers of Rett Syndrome, and possibly other breathing disorders" said Professor John Bissonnette from the University of Oregon who co-led the study.
The findings of the study, which was funded by the International Rett Syndrome Foundation and the National Institutes of Health, are revealed in a paper published by the journal – Proceedings in the National Academy of Science (PNAS).
INFORMATION:
Life threatening breathing disorder of Rett syndrome prevented
2010-10-05
ELSE PRESS RELEASES FROM THIS DATE:
Saving tropical forests: Value their carbon and improve farming technology
2010-10-05
COLLEGE PARK, Md. -- In a warming 21st century, tropical forests will be at risk from a variety of threats, especially the conversion to cropland to sustain a growing population. A new report this week in the Proceedings of the National Academy of Sciences Early Edition shows that crop productivity improvements and carbon emission limits together could prevent widespread tropical deforestation over the next 100 years -- but if relying on either one alone, the world is at risk of losing many of its tropical forests.
"We're often concerned with agriculture encroaching on ...
Radiation pharmacogenomics identifies biomarkers that could personalize cancer treatment
2010-10-05
October 5, 2010 – Radiation therapy is used to treat more than half of all cancer cases, but patient response to therapy can vary greatly. Genetics is increasingly being recognized as a significant contributor to inter-individual response to radiation, but the biology underlying response remains poorly understood. In a study published online today in Genome Research (www.genome.org), researchers employed a pharmacogenomics approach to find biomarkers associated with radiation response that could help to more effectively tailor individual cancer treatments in the future.
Response ...
Family therapy for anorexia twice as effective as individual therapy, researchers find
2010-10-05
STANFORD, Calif. — Family-based therapy, in which parents of adolescents with anorexia nervosa are enlisted to interrupt their children's disordered behaviors, is twice as effective as individual psychotherapy at producing full remission of the disease, new research from the Stanford University School of Medicine, Lucile Packard Children's Hospital and the University of Chicago shows. The study is the first head-to-head comparison of these two common treatment approaches for adolescents suffering from the eating disorder.
"This research was desperately needed," said James ...
Family-based treatment found most effective for anorexia nervosa patients
2010-10-05
An anorexia nervosa treatment strategy that promotes parental involvement in restoring an adolescent to healthy weight and eating habits is more effective than traditional individual-based anorexia nervosa therapy, according to new research.
The study, published online October 4 in Archives of General Psychiatry, is the first randomized clinical trial to definitively demonstrate that family based treatment, also known as the Maudsley Approach, is the treatment of choice for this patient population.
More than 50 percent of patients receiving family based treatment (FBT) ...
Guidelines on using artery-closing devices: devices are ok, but more research needed
2010-10-05
Re-opening a blocked heart artery isn't the only procedure that concerns doctors when they thread instruments through an opening in a thigh artery and into a heart artery. Closing up the thigh artery is also a concern.
Arteriotomy — the process of creating a hole in an "access artery" through which instruments are inserted — is the first step in procedures like angiography (to visualize blockage in the heart or neck arteries) or percutaneous coronary intervention (to re-open blocked heart arteries).
A new statement from the American Heart Association addresses the use ...
African-Americans with high blood pressure need treatment sooner, more aggressively
2010-10-05
According to a consensus statement by the International Society on Hypertension in Blacks (ISHIB), high blood pressure in African-Americans is such a serious health problem that treatment should start sooner and be more aggressive. The ISHIB statement is published in Hypertension: Journal of the American Heart Association.
Complications related to high blood pressure such as stroke, heart failure and kidney damage occur much more frequently in African-Americans compared with whites.
"Evidence from several recently completed studies converged to convince our committee ...
Vaccinations should continue as influenza pandemics epidemics wane
2010-10-05
San Diego, CA, October 5, 2010 – Influenza pandemics often come in multiple waves. As the one wave subsides, public health officials have to decide whether continuing vaccination programs is warranted to prevent or reduce a subsequent wave. In a new study published in the November issue of the American Journal of Preventive Medicine, researchers report on a new computer model that can be used to predict both subsequent-wave mechanisms and vaccination effectiveness. They conclude that additional waves in an epidemic can be mitigated by vaccination even when an epidemic appears ...
Duke vaccine extends survival for patients with deadly brain cancers
2010-10-05
DURHAM, N.C. -- A new vaccine added to standard therapy appears to offer a survival advantage for patients suffering from glioblastoma (GBM), the most deadly form of brain cancer, according to a study from researchers at Duke University Medical Center and The University of Texas MD Anderson Cancer Center.
The vaccine also knocks out a troublesome growth factor that characterizes the most aggressive form of the disease.
"About a third of all glioblastomas are fueled by a very aggressive cancer gene, called EGFRvIII; these tumors are the 'worst of the worst,'" said John ...
Protecting embryos against microbes
2010-10-05
Headed by the Kiel zoologist Professor Thomas Bosch, a team of scientists from Germany and Russia succeeded in deciphering the mechanisms, for the first time, with which embryos of the freshwater polyp Hydra protect themselves against bacterial colonization. The paper will be published this coming Monday (4 October 2010, press embargo 3pm US Eastern Time) in the online edition of Proceedings of the National Academy of Sciences of the United States of America (PNAS).
The researchers from Kiel University found a completely different composition of bacterial colonization ...
Children with ADHD at increased risk for depression and suicidal thoughts as adolescents
2010-10-05
Children diagnosed with attention deficit/hyperactivity disorder (ADHD) at ages 4 to 6 are more likely to suffer from depression as adolescents than those who did not have ADHD at that age, according to a long-term study published in the October issue of the Archives of General Psychiatry. Although it was an uncommon occurrence, the children with ADHD also were somewhat more likely to think about or attempt suicide as adolescents.
"This study is important in demonstrating that, even during early childhood, ADHD in is seldom transient or unimportant" said study director ...