Featured Research

from universities, journals, and other organizations

Of Mice and Men: Characterization of a new autism gene

Date:
May 3, 2012
Source:
Charité - Universitätsmedizin Berlin
Summary:
Malfunctioning single proteins can cause disruptions in neuronal junctions leading to autistic forms of behavior. A new study comes to this conclusion after examining genetically altered mice.

Malfunctioning single proteins can cause disruptions in neuronal junctions leading to autistic forms of behavior. A current study, published in the scientific journal Nature, comes to this conclusion after examining genetically altered mice.

Related Articles


The study, in which scientists from Charité -- Universitätsmedizin Berlin and the NeuroCure Cluster of Excellence contributed, thus supports the hypothesis that disruptions in neuronal junctions, i.e. synapses, could be the cause of the development of neuropsychiatric illnesses like autism. The international research team, that included scientists from Ulm University and the Institut Pasteur in Paris, ascribes a key role to the excitatory synapses. This finding could become an important step stone for future autism therapies.

Nerve cells communicate with each other via signal transmission to synaptic junctions. These junctions are stabilized through structural proteins, including the so-called ProSAP1/Shank2 protein. In order to understand the role that this protein has on synapses and ultimately in the development of autism, the researchers genetically modified mice and disabled the relevant protein. The choice of this protein was not arbitrary: In preparation for the current study, a number of the scientists involved found evidence that the mutation of this protein can lead to autism in humans. Various neuronal developmental disorders manifested through distinctive social and communicative behavioral features, as well as stereotyped behaviors are combined under the term of "autism."

The absence of this structural protein in the mouse model also had visible implications: Animals with the mutated gene are hyperactive and demonstrate compulsive repetitions of particular features -- like grooming, for example. In behavioral experiments, peculiarities in social and communicative interaction also become distinct. In the brains of the mice, researchers found noticeable mutations of synaptic junctions -- specifically in excitatory synapses. When glutamate transmitters bind to glutamate receptors located at these junctions, the nerve cells become excitatory. If the mouse is lacking this structural protein, the transmitters increasingly find a related structural protein on the excitatory synapses, the ProSAP2/Shank3. This protein has also been implicated in the development of autism. At the same time, the composition of glutamate receptors mutates.

But what happens when this related structural protein in the mice is switched off? This is also examined in the study presented. The conclusion is that, in this case as well, mutations of the excitatory synapses occur. Obviously, both structural molecules alternate in fulfilling regular functions. "The study illustrates the significant role glutamatergic systems play in autism and thus contributes to understanding better synaptic changes in autism," reports Stephanie Wegener, one of the participating scientists at Charité Berlin. The study is therefore an important part of the essential scientific foundation needed to develop possible therapies for autism.


Story Source:

The above story is based on materials provided by Charité - Universitätsmedizin Berlin. Note: Materials may be edited for content and length.


Journal Reference:

  1. Michael J. Schmeisser, Elodie Ey, Stephanie Wegener, Juergen Bockmann, A. Vanessa Stempel, Angelika Kuebler, Anna-Lena Janssen, Patrick T. Udvardi, Ehab Shiban, Christina Spilker, Detlef Balschun, Boris V. Skryabin, Susanne tom Dieck, Karl-Heinz Smalla, Dirk Montag, Claire S. Leblond, Philippe Faure, Nicolas Torquet, Anne-Marie Le Sourd, Roberto Toro, Andreas M. Grabrucker, Sarah A. Shoichet, Dietmar Schmitz, Michael R. Kreutz, Thomas Bourgeron, Eckart D. Gundelfinger, Tobias M. Boeckers. Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2. Nature, 2012; DOI: 10.1038/nature11015

Cite This Page:

Charité - Universitätsmedizin Berlin. "Of Mice and Men: Characterization of a new autism gene." ScienceDaily. ScienceDaily, 3 May 2012. <www.sciencedaily.com/releases/2012/05/120503104316.htm>.
Charité - Universitätsmedizin Berlin. (2012, May 3). Of Mice and Men: Characterization of a new autism gene. ScienceDaily. Retrieved February 1, 2015 from www.sciencedaily.com/releases/2012/05/120503104316.htm
Charité - Universitätsmedizin Berlin. "Of Mice and Men: Characterization of a new autism gene." ScienceDaily. www.sciencedaily.com/releases/2012/05/120503104316.htm (accessed February 1, 2015).

Share This


More From ScienceDaily



More Mind & Brain News

Sunday, February 1, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

NFL Concussions Down; Still on Parents' Minds

NFL Concussions Down; Still on Parents' Minds

AP (Jan. 30, 2015) — The NFL announced this week that the number of game concussions dropped by a quarter over last season. Still, the dangers of the sport still weigh on players, and parents&apos; minds. (Jan. 30) Video provided by AP
Powered by NewsLook.com
Study Shows Newborn Chicks Count From Left to Right Just Like Humans

Study Shows Newborn Chicks Count From Left to Right Just Like Humans

Buzz60 (Jan. 30, 2015) — Researchers for the first time identified human&apos;s innate preference for associating low and high numbers with the left and right respectively in another species. Jen Markham (@jenmarkham) explains. Video provided by Buzz60
Powered by NewsLook.com
Best Mood Elevating, Feel Good Shakes & Smoothies

Best Mood Elevating, Feel Good Shakes & Smoothies

Buzz60 (Jan. 30, 2015) — You can elevate your mood by having a meal in a glass. Fitness and nutrition expert John Basedow (@JohnBasedow) offers the best &apos;feel good&apos; smoothies and shakes chock full of depression-relieving ingredients...including apples, berries, lemons, cucumbers, papaya, kiwi, spinach, kale, whey protein, matcha, ginger, turmeric and cinnamon. Video provided by Buzz60
Powered by NewsLook.com
Poll Says Firstborn Is Responsible, Youngest Is Funnier

Poll Says Firstborn Is Responsible, Youngest Is Funnier

Newsy (Jan. 30, 2015) — According to a poll out of the U.K., eldest siblings feel more responsible and successful than their younger siblings. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
 
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:  

Breaking News:

Strange & Offbeat Stories

 

Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:  

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile iPhone Android Web
Follow Facebook Twitter Google+
Subscribe RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins