Advertising

The Seattle Times Company

NWjobs | NWautos | NWhomes | NWsource | Free Classifieds | seattletimes.com

The Seattle Times

Nation & World


Our network sites seattletimes.com | Advanced

Originally published Friday, February 9, 2007 at 12:00 AM

E-mail article     Print view

Hope for girls with autismlike disease

Scientists are raising the first hope of recovery from an autismlike disease that leaves thousands of girls unable to talk or walk, with...

The Associated Press

WASHINGTON — Scientists are raising the first hope of recovery from an autismlike disease that leaves thousands of girls unable to talk or walk, with an experiment that erased symptoms of the disorder in genetically engineered mice.

Thursday's report challenges the long-held belief that the brain damage from Rett syndrome is permanent, but it comes with a big warning: Researchers don't know how to even try such treatment in people yet, making the discovery one of both optimism and continued frustration.

"The thing that keeps your feet on the ground with this study is it shows the principle of reversibility, but doesn't give you any clue about how to accomplish that," cautioned lead researcher Dr. Adrian Bird, a geneticist at Scotland's Edinburgh University.

Still, parents rejoiced at the research, saying it gave them hope that even if finding actual therapies takes another decade, their daughters still may have a chance to improve.

"To think even 10 or 20 years down the road ... she could learn to talk and walk," said Jennifer Endres of her daughter Jillian, 4.

And the work, published Thursday by the journal Science, could affect more than Rett syndrome, because the same genetic culprit plays a role in certain forms of autism and other brain diseases, too.

"In this class of disorders, now we have a great hope that if we figure out a way to manipulate the function of the neurons ... we have a chance of recovery," said Dr. Huda Zoghbi of the Baylor College of Medicine. Zoghbi discovered Rett's genetic culprit in 1999.

Rett syndrome is rare, afflicting roughly one in 10,000 girls. (Boys who are stricken almost always die in infancy.)

But Rett is the most physically disabling of the family of autism diseases. Girls are born healthy but then the culprit gene somehow mutates, destroying speech and normal movement. A classic sign is hands that can do nothing but wring. Many children never walk; those that do have a stiff-legged gait. Symptoms usually appear between 6 and 18 months of age. Patients can live to adulthood, although many die of infections before then.

What goes awry: a gene called MECP2 that is supposed to switch off other genes involved in the maturation of neurons. When MECP2 shuts off in Rett syndrome, girls' brain cells don't die, but they don't keep developing.

The question is whether switching that gene back on could restore neuronal function. Even Bird didn't think so — he was stunned by his own team's finding.

The experiments couldn't test cognitive functions, such as speech, just physical ones.

But "the work is really beautiful," said Dr. Uta Francke of Stanford University, a co-discoverer of MECP2 gene who has studied and cared for Rett patients for 20 years. "They have very convincing evidence" that damage once thought permanent is reversible.

Copyright © The Seattle Times Company

More Nation & World headlines...

E-mail article Print view      Share:    Digg     Newsvine

advertising

UPDATE - 02:06 AM
Sources: Obama near decision on Afghanistan troops

Bill Clinton meets with Senate Dems on health care

UPDATE - 02:09 AM
FBI reassessing past look at Fort Hood suspect

UPDATE - 03:08 AM
D.C. sniper mastermind set to be executed Tuesday

Case against Ohio bodies suspect expands overseas

Advertising

Video

Ken Auletta talks about "Googled"
Ken Auletta talks about Google with Brier Dudley at the Seattle Central Library.

Medal of Honor
Pelosi answers questions at Swedish Medical Center
Pelosi speaks at Swedish Medical Center
"Pistol" Pete Ryan
Mourners gather at KeyArena for slain officer's memorial
Procession for slain SPD officer
Election Night: Approve R-71
Election Night: Reject R-71
Election Night: Joe Mallahan

Marketplace

nwautos

2009's most fuel-efficient sedansnew
Choosing a new sedan? Weigh the impact of your choice on your wallet and on the planet.
Post a comment

Open Houses

Find this weekend's open house listings.
Or search by location:

 
Most read
Most commented
Most e-mailed
 
 
Advertising