Featured Research

from universities, journals, and other organizations

Researchers Link Early Stem Cell Mutation To Autism

Date:
July 1, 2008
Source:
Burnham Institute
Summary:
In a breakthrough scientific study, scientists have shown that neural stem cell development may be linked to Autism. The study demonstrated that mice lacking the myocyte enhancer factor 2C protein in neural stem cells had smaller brains, fewer nerve cells and showed behaviors similar to those seen in humans with a form of autism known as Rett syndrome.

In a breakthrough scientific study published June 30 in the Proceedings of the National Academy of Sciences, scientists at the Burnham Institute for Medical Research have shown that neural stem cell development may be linked to Autism.

The study demonstrated that mice lacking the myocyte enhancer factor 2C (MEF2C) protein in neural stem cells had smaller brains, fewer nerve cells and showed behaviors similar to those seen in humans with a form of autism known as Rett Syndrome.

This work represents the first direct link between a developmental disorder of neural stem cells and the subsequent onset of autism.

The research team was led by Stuart A. Lipton, M.D., Ph.D., a clinical neurologist and Professor and Director of the Del E. Webb Neuroscience, Aging and Stem Cell Research Center at Burnham.

"These results give us a good hint of how to look at Rett Syndrome and potentially other forms of autism in humans," said Dr. Lipton. "Having identified a mutation that causes this defect, we can track what happens. Perhaps we can correct it in a mouse, and if so, eventually correct it in humans."

Discovered in Dr. Lipton's laboratory, MEF2C turns on specific genes which drive stem cells to become nerve cells. When MEF2C was deleted from neural stem cells in mice, there was a faulty distribution of neurons accompanied by severe developmental problems. Adult mice lacking MEF2C in their brains displayed abnormal anxiety-like behaviors, decreased cognitive function and marked paw clasping, a behavior which may be analogous to hand wringing, a notable feature in humans with Rett syndrome.

"There's a yin and yang to this MEF2C protein," said Dr. Lipton. "My laboratory recently showed that MEF2C induces embryonic stem cells to become neurons. In this new research, we show that knocking out MEFC2 in the brain results in mice with smaller brains, fewer neurons and reduced neuronal activity. The commonality is the protein's association in making new neurons."

Collaborators were Drs. Hao Li, Shu-ichi Okamoto, Nobuki Nakanishi and Scott McKercher, of Burnham, as well as Dr. Amanda Roberts from The Scripps Research Institute and Dr. John Schwarz from the Albany Medical Center.

Rett syndrome, a form of autism, afflicts more girls than boys and results in poor brain development, repetitive hand motions, altered anxiety behaviors and the inability to speak. Patients with Rett Syndrome also suffer from seizures and other debilitating neurological symptoms.


Story Source:

The above story is based on materials provided by Burnham Institute. Note: Materials may be edited for content and length.


Cite This Page:

Burnham Institute. "Researchers Link Early Stem Cell Mutation To Autism." ScienceDaily. ScienceDaily, 1 July 2008. <www.sciencedaily.com/releases/2008/06/080630173926.htm>.
Burnham Institute. (2008, July 1). Researchers Link Early Stem Cell Mutation To Autism. ScienceDaily. Retrieved August 21, 2014 from www.sciencedaily.com/releases/2008/06/080630173926.htm
Burnham Institute. "Researchers Link Early Stem Cell Mutation To Autism." ScienceDaily. www.sciencedaily.com/releases/2008/06/080630173926.htm (accessed August 21, 2014).

Share This




More Health & Medicine News

Thursday, August 21, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Possible Ebola Patient in Isolation at California Hospital

Possible Ebola Patient in Isolation at California Hospital

Reuters - US Online Video (Aug. 20, 2014) — A patient who may have been exposed to the Ebola virus is in isolation at the Kaiser Permanente South Sacramento Medical Center. Linda So reports. Video provided by Reuters
Powered by NewsLook.com
Raw: World's Oldest Man Lives in Japan

Raw: World's Oldest Man Lives in Japan

AP (Aug. 20, 2014) — A 111-year-old Japanese was certified as the world's oldest man by Guinness World Records on Wednesday. Sakari Momoi, a native of Fukushima in northern Japan, was given a certificate at a hospital in Tokyo. (Aug. 20) Video provided by AP
Powered by NewsLook.com
Do More Wedding Guests Make A Happier Marriage?

Do More Wedding Guests Make A Happier Marriage?

Newsy (Aug. 20, 2014) — A new study found couples who had at least 150 guests at their weddings were more likely to report being happy in their marriages. Video provided by Newsy
Powered by NewsLook.com
Ebola-Hit Sierra Leone's Freetown a City on Edge

Ebola-Hit Sierra Leone's Freetown a City on Edge

AFP (Aug. 19, 2014) — Residents of Sierra Leone's capital voice their fears as the Ebola virus sweeps through west Africa. Duration: 00:56 Video provided by AFP
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:
from the past week

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