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:5/2/2016)... ... May 02, 2016 , ... Dr. Jonathan Kulbersh of Carolina Facial Plastics isn’t surprised ... five on the list of “ 5 US Cities with the Highest Plastic Rates .” ... and Miami. The results were calculated using a survey by RealSelf and ...
(Date:5/2/2016)... ... May 02, 2016 , ... MedaCheck, a leading medication ... outcomes, has announced its partnership with GrandView Health Services. , With decades of ... counter and prescription drug pharmacy services to thousands of residents. Serving Indiana, Ohio, ...
(Date:5/2/2016)... ... May 02, 2016 , ... The Evolve Paddle Board Company- which specializes ... today the outcome of their partnership with Yoloha Yoga- producers of high quality cork ... , SUP yoga has seen a dramatic rise in popularity throughout the last few ...
(Date:5/2/2016)... ... May 02, 2016 , ... One of Hollywood’s best kept ... Dermatology Surgery & Laser Center, in Milford, Penn. “Patients with busy lives want noninvasive ... fat treated and go home or back to work without having to wear recovery ...
(Date:5/2/2016)... Worcester, MA and Shelton, CT (PRWEB) , ... May 02, 2016 ... ... Scott Krug, President and Owner of New England Low Vision and Blindness (NELV&B) ... location will add more flexibility and convenience for people with vision impairments to get ...
Breaking Medicine News(10 mins):
(Date:4/28/2016)... 28, 2016 , Net Sales of $1.90 ... over the prior year period, and an increase of 1.2% ... Diluted EPS for the first quarter were $0.52 reported, a ... adjusted, an increase of 29.9% over the prior year period ... earnings guidance for 2016 Zimmer Biomet Holdings, Inc. ...
(Date:4/28/2016)... Florida , April 28, 2016 ... the development of innovative peptide and gene-based immunotherapeutics and vaccines ... it will be presenting at the 3rd Annual Growth ... - 5 th , 2016 at Caesars Palace in Las Vegas, ... 8.00 am on Wednesday, May 4 th by Dr. ...
(Date:4/27/2016)... 27, 2016   ... in Recurring Consumable Sales  Clinical sales grow ... Technologies (Euronext: MKEA, OTCQX: MKEAY) inventor of Cellvizio®, the ... for the first quarter ended March 31, 2016 and ... of its commercial strategy. First Quarter 2016 ...
Breaking Medicine Technology: