Skip to main content
Accessibility  |  Contact  |  Privacy  |  Terms of Service

Life Threatening Breathing Disorder of Rett Syndrome Prevented

  • Published: 2010-10-06 : Author: Rett Syndrome
  • Synopsis: Researchers discover way to prevent episodes of breath holding in a mouse model of Rett syndrome.

Main Document

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 signaling 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 Oregon Health and Science University in Portland 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 ).

Similar Topics

1 : Autism's Social Deficits Reversed by Romidepsin Anti-Cancer Drug : University at Buffalo.
2 : Urine and Blood Tests Can Indicate Autism in Children : University of Warwick.
3 : Reduced Attention to Audiovisual Synchrony in Infancy May Predict Autism Diagnosis : Uppsala University.
4 : Slight Fluctuations in Movement Correspond to Autism Diagnoses : Indiana University.
5 : The Multiple Mutations of Autism : University of Washington Health Sciences/UW Medicine.
From our Autism Facts and Information section - Full List (203 Items)

Submit disability news, coming events, as well as assistive technology product news and reviews.

Loan Information for low income singles, families, seniors and disabled. Includes home, vehicle and personal loans.

Famous People with Disabilities - Well known people with disabilities and conditions who contributed to society.

List of awareness ribbon colors and their meaning. Also see our calendar of awareness dates.

Blood Pressure Chart - What should your blood pressure be, and information on blood group types/compatibility.

1 : Actress Eileen Grubba Advocates for Inclusion from Hollywood to the Boardroom
2 : Types of Genetic Mutations Associated with Nephrotic Syndrome Identified
3 : Fighting My Cancer as Much as Possible - Why Many Patients Join Phase 1 Clinical Trials
4 : Social Stigma Can Stand in the Way of Food Insecurity Screening
5 : Being a Clone of Itself May Make Toenail Fungus Vulnerable to New Treatments


Disclaimer: This site does not employ and is not overseen by medical professionals. Content on Disabled World is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of a physician or other qualified health provider with any questions you may have regarding a medical condition. See our Terms of Service for more information.

Reporting Errors: Disabled World is an independent website, your assistance in reporting outdated or inaccurate information is appreciated. If you find an error please let us know.