Navigation Links
Misfolded neural proteins linked to autism disorders
Date:9/10/2010

An international team of scientists, led by researchers at the University of California, San Diego, has identified misfolding and other molecular anomalies in a key brain protein associated with autism spectrum disorders.

Palmer Taylor, associate vice chancellor for Health Sciences at UC San Diego and dean of the Skaggs School of Pharmacy and Pharmaceutical Sciences, and colleagues report in the September 10 issue of the Journal of Biological Chemistry that misfolding of a protein called neuroligin-3, due to gene mutations, results in trafficking deficiencies that may lead to abnormal communications between neurons.

Genetic misfolding of neuroligins is thought to prevent normal formation and function of neuronal synapses. The gene mutation has been documented in patients with autism.

"It makes sense that there's a connection," said Taylor. "The neuroligins are involved in maintaining neuronal synapses and their malfunction is likely to affect a neurodevelopmental disease."

Neuroligins are post-synaptic proteins that help glue together neurons at synapses by connecting with pre-synaptic protein partners called neurexins. They are part of a larger family of alpha-beta-hydrolase fold proteins that includes many molecules with diverse catalytic, adhesion and secretory functions.

Using live neurons in culture, the researchers found that different mutations caused different degrees of misfolding of the protein structure, which translated into trafficking deficiencies of varying severity regardless of alpha-beta-hydrolase protein type, yet resulted in distinctly different congenital disorders in the endocrine or nervous systems.

Both neuroligins and the autism mutations are relatively new to science. The former were characterized 15 years ago, the latter discovered just seven years ago. Taylor said identifying and describing the misfolded protein link advances understanding of the complex causes of certain autisms, including the influences of genes versus environment, and perhaps offers a new target for potential drug therapies.

"If the mutation is identified early, it might be possible to rescue affected neurons before abnormal synaptic connections are established" said co-author Davide Comoletti, a research scientist at the Skaggs School of Pharmacy. "But much work remains. We may be able to find a treatment to fix a cell in culture, but to rescue function in vivo may not be feasible with the same strategy."


'/>"/>

Contact: Scott LaFee
slafee@ucsd.edu
619-543-6163
University of California - San Diego
Source:Eurekalert

Related medicine news :

1. Race and empathy matter on neural level
2. Neuralstem updates clinical trial progress
3. FDA approves first human neural stem cell clinical trial to treat brain tumors
4. Human neural stem cells restore motor function in mice with chronic spinal cord injury
5. Neuralstem files FDA application for first chronic spinal cord injury stem cell trial
6. Hurts so good -- neural clues to the calming effects of self-harm
7. The neural basis of the depressive self
8. SIBLING proteins may predict oral cancer
9. Proteins May Predict Spread of Colon Cancer
10. Proteins may point to alcohol use test
11. Newly identified proteins critical to FA pathway DNA repair function
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:12/6/2016)... ... 06, 2016 , ... Specialty Technical Publishers (STP) and Specialty ... Consortium (IAPC) EHS audit protocol for Great Britain . Leading companies around ... EHS regulatory obligations and rapidly collect, share, archive, and export audit findings in ...
(Date:12/6/2016)... , ... December 06, 2016 , ... ... to "Training" magazine’s 2017 Training Top 125 for their industry leading training methods ... annual award recognizes USA as among the global elite in employer-sponsored training and ...
(Date:12/5/2016)... ... December 05, 2016 , ... The ... care facility – Avamere Transitional Care of Puget Sound ; located at ... health care center will provide patients recovering from illness or injury with intensive ...
(Date:12/5/2016)... ... December 05, 2016 , ... Researchers at Johns Hopkins All Children’s Hospital want ... athletes. Over the course of three years, researchers will study concussions and changes in ... guards, equipped with special sensors, will track the location and force of the hit. ...
(Date:12/5/2016)... (PRWEB) , ... December 05, 2016 , ... ... Keynote speaker for the 21st Annual International Congress on Hematologic Malignancies®: Focus on ... PER® president, Phil Talamo said, “We are honored to have Amy E. Herman ...
Breaking Medicine News(10 mins):
(Date:12/5/2016)... Sanovas, Inc., a life science asset holding company ... wholly owned subsidiary, Intubation Science, Inc., and its LightSpeed Intubation ... http://photos.prnewswire.com/prnh/20161202/445251LOGO   ... Sanovas, Inc. ... There are over 40 million Endotracheal Intubations performed annually ...
(Date:12/5/2016)... Health and Gateway Health proudly announce a dynamic collaboration that ... plan members with specific high risk needs. In ... group of consumers, Wellbridge combines technology and population expertise with ... members, daily behaviors and lifestyle. ... , , ...
(Date:12/5/2016)... Dec. 5, 2016  Recently Zymo Research announced ... predictor, known as Horvath,s Clock. Based on this ... analysis service to academic and biopharma scientific researchers ... sample, other than sperm. The service ... biological age versus chronological age following drug treatments ...
Breaking Medicine Technology: