Hello all.
Had this article sent to me through a friend in England.
Life threatening breathing disorder of Rett syndrome prevented
Press release issued 4 October 2010
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).
Please contact Aliya Mughal for further information.
You can find the article in it's original releaase at:
http://www.bristol.ac.uk/news/2010/7233.html
Abby meeting members of the congregation. They were all such wonderful loving people!
Grandpa John with Abby. She loves him so much!
Yeah It's Abby's Grandma Gerre. They surprised us and Abby was definately thrilled!
Everythings all about me! Woo hoo!
Abby dancing with her Daddy!
Daddy and Celia doing some Salsa dancing. We had a great time. Videos to come so stay tuned!
Oh I love my presents Mommy. I must kiss them!
And a good birthday smack for Daddy!
And a kiss from my cousin Beau! So embarrasing!
Above is the pic of our darling Princess Abby arriving at the event. Just look at that smile. It was the day before her birthday and we told her everyone was there for her!
Shannons daughter Alyssa looking ultra chic!
Yipee for Abby. This is her approval or happy thing she does!
Happy Birthday singing to a few girls and Abby!!!
Group pic! Great job everyone! If you would like to see more pics you can visit the photographers page at
Above is Abby holding her purple card. It's like a little awareness in your pocket and we hand them out everywhere when people ask what Rett Syndrome is or what Abby is living with.
Look how cute she is! You can order your own awareness cards at GP2C. I don't know what we'd do without them.
Always my favorite pics. I love it when my kids play together. Also the only time I can get my son to take a pic is with his sister.
Look at the love in this picture!
One of my BFF's from high school came home after 23 years. She spent a week and we love her so so much!
Our friends Bridget and Kelly gave us a great idea to buy a stamp with Abby's name on it so she could write her name on her papers at school! I think I was a little more excited about it then she was. You can buy the $18.99 stamp at Staples. Some girls around the country had to order their's but they made ours while we waited. Took about 5 minutes.
This one took me a few days to get over before I could post.
