Navigation Links
Model for angelman syndrome developed by University of Texas at Austin biologists
Date:8/14/2008

AUSTIN, TexasA model for studying the genetics of Angelman syndrome, a neurological disorder that causes mental retardation and other symptoms in one out of 15,000 births, has been developed by biologists at The University of Texas at Austin.

Their research demonstrates that when a particular fruit fly gene, dube3a, is altered, the mutant flies show behavioral dysfunctions similar to those experienced by humans whose UBE3A gene doesn't function normally.

The work, led by Yaning Wu and Janice Fischer of the Section of Molecular Cell and Developmental Biology, is described in PNAS Early Edition online this week (Aug. 11-15), and will appear in the print version of the Proceedings of the National Academy of Sciences later this month.

"People inherit Angelman syndrome as a mutant UBE3A gene that does not make UBE3A protein," says Fischer, a professor in the Institute for Cellular and Molecular Biology.

The UBE3A protein is an enzyme that attaches a small protein called ubiquitin to other proteins. Ubiquitin attachment signals that the tagged protein needs to be degraded.

"The simplest explanation for the disease biochemistry is that when UBE3A is not around to do its job, its substrates aren't being degraded like they should be, and these proteins build up and interfere with brain functions," Fischer says.

The symptoms of Angelman syndrome in humans include severe mental retardation, epileptic seizures and sleep disturbances.

The work Wu, Fischer and their collaborators have done over the last six years has involved engineering fruit flies with the appropriate mutations in their genes and also particular control transgenes.

The researchers ran the mutant flies through a series of tests, comparing their performances to control groups of flies whose dube3a genes functioned normally. Among other results, the mutant flies weren't able to climb as well up the sides of plastic containers, weren't as able to form long-term memories (of aversive shocks) and were more likely to display circadian rhythm irregularities.

In other words, the flies, says Fischer, suffer from a kind of Angelman syndrome, and should therefore offer a useful model for understanding the biochemistry of the disorder in humans. In particular, the fly models may provide clues to which specific protein, or proteins, are accumulating in the brain and causing the dysfunction.

"We've known for more than 10 years which gene is at fault, but we haven't known some of the specifics of the process," she says. "Now that we know that the fly gene works pretty much the way that the human one does, we can look for the key substrate in flies, and eventually test likely candidates in mice and see if they're really associated with the disease."


'/>"/>
Contact: Dr. Janice Fischer
jaf@mail.utexas.edu
512-471-5831
University of Texas at Austin
Source:Eurekalert

Related biology news :

1. Novel 3-D cell culture model shows selective tumor uptake of nanoparticles
2. A new kind of rat model
3. JILA finds flaw in model describing DNA elasticity
4. Smithsonian researchers develop models to assess wetland health
5. Prediction of RNA pseudoknots using heuristic modeling with mapping and sequential folding
6. Simulating kernel production influences maize model accuracy
7. MIT model could improve some drugs effectiveness
8. Model for the assembly of advanced, single-molecule-based electronic components developed at Pitt
9. Improving detection of nuclear smuggling goal of computer model of mechanical engineer
10. New chimeric mouse model for human liver diseases, drug testing
11. Study finds first-ever genetic animal model of autism
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:3/22/2017)... , March 21, 2017 Optimove ... used by retailers such as 1-800-Flowers and AdoreMe, ... — Product Recommendations and Replenishment. Using Optimove,s machine learning ... personalized product and replenishment recommendations to their customers ... on predictions of customer intent drawn from a ...
(Date:3/13/2017)... March 13, 2017 Future of security: Biometric Face Matching ... ... DERMALOGs Face Matching enables to match face pictures against each ... to identify individuals. (PRNewsFoto/Dermalog Identification Systems) ... DERMALOG,s "Face Matching" is the fastest software for biometric Face Matching on ...
(Date:3/6/2017)... , March 6, 2017 Mintigo ... technology, today announced Predictive Sales Coach TM , ... actionable sales intelligence into Salesforce. This unique AI ... their sales organizations with deep knowledge of their ... for intelligent engagement. Predictive Sales Coach extends Mintigo,s ...
Breaking Biology News(10 mins):
(Date:3/22/2017)...   iSpecimen ®, the marketplace for ... Service (DPS), a full-service anatomic pathology reference lab ... States , has joined a program offered by ... (DHIN) to make human biospecimens and associated data available ... announced in 2015 as a collaboration between iSpecimen and ...
(Date:3/22/2017)... , March 22, 2017 /PRNewswire/ - FACIT announced ... "Company" or "Propellon"), a start-up created by FACIT ... therapeutics. FACIT,s investment, combined with non-dilutive capital, achieves ... The seed funding enables Propellon to accelerate the ... Company for financing and/or entering a strategic partnership ...
(Date:3/22/2017)... ... 2017 , ... Premier executive recruitment firm, Slone Partners, is proud to have ... Media. , Hunt Scanlon Media is one of the most respected life ... in the human capital sector. , “It is a great honor for Slone Partners ...
(Date:3/22/2017)... ... March 21, 2017 , ... Benchworks CEO Thad L. Bench Sr. ... on March 23-24 in San Diego. The event is a gathering of executive leadership ... Benchworks Vice President Christian Meyer will also participate in the forum. Participants will discuss ...
Breaking Biology Technology: