Featured Research

from universities, journals, and other organizations

Researchers develop mouse model to help find how a gene mutation leads to autism

Date:
December 18, 2010
Source:
The Mount Sinai Hospital / Mount Sinai School of Medicine
Summary:
Researchers have found that when one copy of the SHANK3 gene in mice is missing, nerve cells do not effectively communicate and do not show cellular properties associated with normal learning. This discovery may explain how mutations affecting SHANK3 may lead to autism spectrum disorders.

Researchers from Mount Sinai School of Medicine have found that when one copy of the SHANK3 gene in mice is missing, nerve cells do not effectively communicate and do not show cellular properties associated with normal learning. This discovery may explain how mutations affecting SHANK3 may lead to autism spectrum disorders (ASDs).

Related Articles


The research is currently published in Molecular Autism.

"We know that SHANK3 mutation plays a central, causative role in some forms of autism spectrum disorders, but wanted to learn more about how it does this," said Joseph Buxbaum, PhD, Director of the Seaver Autism Center and Professor of Psychiatry, Neuroscience and Genetics and Genomic Sciences at Mount Sinai School of Medicine. "These data provide critical insight into the mechanism behind the development of the cognitive and social changes associated with autism."

Previous research has shown that gene mutation in SHANK3 is associated with delayed language abilities, learning disability, and ASDs. A team of researchers at the Seaver Autism Center for Research and Treatment at Mount Sinai School of Medicine and the Intramural Research Program of the National Institute of Mental Health wanted to better understand the connection between the SHANK3 mutation and subsequent brain and behavioral difficulties. They examined mice genetically engineered to lack one copy of SHANK3, similar to patients who have a mutation in one copy of SHANK3, and compared the nerve cell activity of these mice with that of mice in a control group that did not have the mutation. They also examined social behaviors in these mice.

Mount Sinai scientists looked at brain activity in vitro and worked with the NIMH Laboratory of Behavioral Neuroscience, led by Jacqueline Crawley, PhD, to evaluate behavioral differences in the two groups of mice. The research team observed impaired communication between nerve cells in the mice with the SHANK3 mutation. They also found altered functional and structural plasticity in nerve cells, which is a cellular measure of the flexibility that occurs during learning, and in the synapses -- the points of contact between nerve cells. Behavioral observations indicated reduced male-female social interactions in the SHANK3 mutant mice. The studies identify clear brain targets that can implicate drugs that can be therapeutic.

"These results have helped us determine a pathological mechanism behind neurodevelopmental disorders like autism," said Dr. Buxbaum. "Currently, the only therapeutic options for people with ASDs are to treat the symptoms of the disease, like anxiety or aggression. Armed with this breakthrough, we can begin testing drug compounds that treat the disease at its root cause, improving nerve cell communication. We hope and expect that, like other developmental disorders such as Fragile X syndrome, the use of mouse models will lead directly to clinical trials that can benefit patients."

The study was supported by a grant from the Seaver Foundation and a special multi-site grant awarded to co-authors Drs. Buxbaum, Crawley, Hof and Zhou from the Simons Foundation.


Story Source:

The above story is based on materials provided by The Mount Sinai Hospital / Mount Sinai School of Medicine. Note: Materials may be edited for content and length.


Cite This Page:

The Mount Sinai Hospital / Mount Sinai School of Medicine. "Researchers develop mouse model to help find how a gene mutation leads to autism." ScienceDaily. ScienceDaily, 18 December 2010. <www.sciencedaily.com/releases/2010/12/101216190513.htm>.
The Mount Sinai Hospital / Mount Sinai School of Medicine. (2010, December 18). Researchers develop mouse model to help find how a gene mutation leads to autism. ScienceDaily. Retrieved November 24, 2014 from www.sciencedaily.com/releases/2010/12/101216190513.htm
The Mount Sinai Hospital / Mount Sinai School of Medicine. "Researchers develop mouse model to help find how a gene mutation leads to autism." ScienceDaily. www.sciencedaily.com/releases/2010/12/101216190513.htm (accessed November 24, 2014).

Share This


More From ScienceDaily



More Plants & Animals News

Monday, November 24, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Ebola-Hit Sierra Leone's Late Cocoa Leaves Bitter Taste

Ebola-Hit Sierra Leone's Late Cocoa Leaves Bitter Taste

AFP (Nov. 23, 2014) The arable district of Kenema in Sierra Leone -- at the centre of the Ebola outbreak in May -- has been under quarantine for three months as the cocoa harvest comes in. Duration: 01:32 Video provided by AFP
Powered by NewsLook.com
Anglerfish Rarely Seen In Its Habitat Will Haunt You

Anglerfish Rarely Seen In Its Habitat Will Haunt You

Newsy (Nov. 22, 2014) For the first time Monterey Bay Aquarium recorded a video of the elusive, creepy and rarely seen anglerfish. Video provided by Newsy
Powered by NewsLook.com
Birds Around the World Take Flight

Birds Around the World Take Flight

Reuters - Light News Video Online (Nov. 22, 2014) An imperial eagle equipped with a camera spreads its wings over London. It's just one of the many birds making headlines in this week's "animal roundup". Jillian Kitchener reports. Video provided by Reuters
Powered by NewsLook.com
Could Your Genes Be The Reason You're Single?

Could Your Genes Be The Reason You're Single?

Newsy (Nov. 21, 2014) Researchers in Beijing discovered a gene called 5-HTA1, and carriers are reportedly 20 percent more likely to be single. 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


Plants & Animals

Earth & Climate

Fossils & Ruins

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