Featured Research

from universities, journals, and other organizations

Understanding how a rare genetic mutation causes a severe brain disorder

Date:
April 26, 2010
Source:
Journal of Clinical Investigation
Summary:
Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE) is a rare genetic disorder that was identified in an Old Order Mennonite pediatric population. It is characterized by abnormal brain development, an abnormally large brain, cognitive disability, and severe, therapy-resistant epilepsy. PMSE is caused by mutations in the gene STRADA. A team of researchers has now provided insight into how mutations in STRADA cause PMSE by analyzing a human PMSE brain and mice.

Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE) is a rare genetic disorder that was identified in an Old Order Mennonite pediatric population. It is characterized by abnormal brain development, an abnormally large brain, cognitive disability, and severe, therapy-resistant epilepsy. PMSE is caused by mutations in the gene STRADA.

A team of researchers, led by Peter Crino, at the University of Pennsylvania, Philadelphia, has now provided insight into how mutations in STRADA cause PMSE by analyzing a human PMSE brain and mice.

Specifically, their data indicate that the lack of STRAD-alpha protein caused by the STRADA gene mutations results in the protein LKB1 being abnormally localized, and that this leads to activation of the mTOR signaling pathway, thereby promoting abnormal cell growth and brain development.

The authors suggest that early treatment with the mTOR inhibitor rapamycin, which is used in the clinic to prevent rejection of organ transplants, and other mTOR inhibitors may prevent the devastating neurological features of PMSE.

In an accompanying commentary, Lucy Osborne, at the University of Toronto, Canada, discusses how the data generated by Crino and colleagues adds PMSE to a group of disorders caused by uncontrolled mTOR pathway activation and characterized by benign tumors and malformations of the brain.

The research appears in the Journal of Clinical Investigation.


Story Source:

The above story is based on materials provided by Journal of Clinical Investigation. Note: Materials may be edited for content and length.


Journal References:

  1. Ksenia A. Orlova, Whitney E. Parker, Gregory G. Heuer, Victoria Tsai, Jason Yoon, Marianna Baybis, Robert S. Fenning, Kevin Strauss and Peter B. Crino. STRADα deficiency results in aberrant mTORC1 signaling during corticogenesis in humans and mice. Journal of Clinical Investigation, 2010; DOI: 10.1172/JCI41592
  2. Lucy R. Osborne. Caveat mTOR: aberrant signaling disrupts corticogenesis. Journal of Clinical Investigation, 2010; DOI: 10.1172/JCI43030

Cite This Page:

Journal of Clinical Investigation. "Understanding how a rare genetic mutation causes a severe brain disorder." ScienceDaily. ScienceDaily, 26 April 2010. <www.sciencedaily.com/releases/2010/04/100426212758.htm>.
Journal of Clinical Investigation. (2010, April 26). Understanding how a rare genetic mutation causes a severe brain disorder. ScienceDaily. Retrieved September 23, 2014 from www.sciencedaily.com/releases/2010/04/100426212758.htm
Journal of Clinical Investigation. "Understanding how a rare genetic mutation causes a severe brain disorder." ScienceDaily. www.sciencedaily.com/releases/2010/04/100426212758.htm (accessed September 23, 2014).

Share This



More Health & Medicine News

Tuesday, September 23, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Ebola Costs Keep Mounting

Ebola Costs Keep Mounting

Reuters - Business Video Online (Sep. 23, 2014) The WHO has warned up to 20,000 people could be infected with Ebola over the next few weeks. As Sonia Legg reports, the implications for the West African countries suffering from the disease are huge. Video provided by Reuters
Powered by NewsLook.com
Ebola Cases Could Reach 1.4 Million Within 4 Months

Ebola Cases Could Reach 1.4 Million Within 4 Months

Newsy (Sep. 23, 2014) Health officials warn that without further intervention, the number of Ebola cases in Liberia and Sierra Leone could reach 1.4 million by January. Video provided by Newsy
Powered by NewsLook.com
WHO: Ebola Cases to Triple in Weeks Without Drastic Action

WHO: Ebola Cases to Triple in Weeks Without Drastic Action

AFP (Sep. 23, 2014) The number of Ebola infections will triple to 20,000 by November, soaring by thousands every week if efforts to stop the outbreak are not stepped up radically, the WHO warned in a study on Tuesday. Duration: 01:01 Video provided by AFP
Powered by NewsLook.com
5 Ways Men Can Prevent Most Heart Attacks

5 Ways Men Can Prevent Most Heart Attacks

Newsy (Sep. 23, 2014) No surprise here: A recent study says men can reduce their risk of heart attack by maintaining a healthy lifestyle, which includes daily exercise. 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