Featured Research

from universities, journals, and other organizations

Too much protein HUWE1 causes intellectual disability

Date:
August 31, 2012
Source:
VIB
Summary:
Two to three percent of children are born with an intellectual disability. Possibly by a genetic defect, but in 80 percent of these cases, we do not know -- yet -- which genes are responsible. Increased production of the HUWE1 protein is the cause in some patients, new research shows.

Two to three percent of children are born with an intellectual disability. Possibly by a genetic defect, but in 80 percent of these cases, we do not know -- yet -- which genes are responsible. VIB researchers at KU Leuven show that increased production of the HUWE1 protein is the cause in some patients.

"The fact that HUWE1 regulates the dose of several other proteins in the brains, has an important impact on the quest for new therapies. It would then be possible to intervene in these different proteins. Research into the role of HUWE1 has already started in the lab."

Defects on the X-chromosome

Intellectual disability can be due to external factors such as lack of oxygen at birth or to defects in the genetic material. In genetic (hereditary) causes, the exact identification of the defect is crucial for the medical supervision of the patient or to estimate the risk when having children. It is estimated that approximately 15% of patients have a defect that lies on the X-chromosome. This is called X-linked 'intellectual disability' (XLID). Despite extensive research, in half of XLID-patients, the responsible gene responsible has not yet been identified.

HUWE1 identified as culprit

Guy Froyen and his colleagues (VIB -- KU Leuven) continue their research to find new genes that may cause XLID. Several years ago, they showed that the duplication of a fragment of the X-chromosome leads to a too high concentration of HSD17B10 and HUWE1 proteins.

Guy Froyen: "We knew then that these two proteins could play an important role in the (development of) the memory center in the brains, but we did not yet know which gene was the cause for the increased dose of XLID. Through additional research, including the DNA of 6 additional families from Europe, Australia and South Africa, we now know that HUWE1 is the crucial factor, and that a concentration increase of HUWE1 leads to intellectual disability. "

Consequences for detecting and treating XLMR

The research by Guy Froyen and his colleagues offers new perspectives for the detection and treatment of XLID. This allows for tests to be designed with which the duplication of and errors in HUWE1 are searched. For the development of a new treatment for XLID, further research is required. First of all, scientists must better understand the role of HUWE1 in the body, more specifically in the brains.


Story Source:

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


Journal Reference:

  1. Guy Froyen, Stefanie Belet, Francisco Martinez, Cíntia Barros Santos-Rebouças, Matthias Declercq, Jelle Verbeeck, Lene Donckers, Siren Berland, Sonia Mayo, Monica Rosello, Márcia Mattos Gonçalves Pimentel, Natalia Fintelman-Rodrigues, Randi Hovland, Suely Rodrigues dos Santos, F. Lucy Raymond, Tulika Bose, Mark A. Corbett, Leslie Sheffield, Conny M.A. van Ravenswaaij-Arts, Trijnie Dijkhuizen, Charles Coutton, Veronique Satre, Victoria Siu, Peter Marynen. Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements. The American Journal of Human Genetics, 2012; 91 (2): 252 DOI: 10.1016/j.ajhg.2012.06.010

Cite This Page:

VIB. "Too much protein HUWE1 causes intellectual disability." ScienceDaily. ScienceDaily, 31 August 2012. <www.sciencedaily.com/releases/2012/08/120831083313.htm>.
VIB. (2012, August 31). Too much protein HUWE1 causes intellectual disability. ScienceDaily. Retrieved April 17, 2014 from www.sciencedaily.com/releases/2012/08/120831083313.htm
VIB. "Too much protein HUWE1 causes intellectual disability." ScienceDaily. www.sciencedaily.com/releases/2012/08/120831083313.htm (accessed April 17, 2014).

Share This



More Health & Medicine News

Thursday, April 17, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Obama: 8 Million Healthcare Signups

Obama: 8 Million Healthcare Signups

AP (Apr. 17, 2014) — President Barack Obama gave a briefing Thursday announcing 8 million people have signed up under the Affordable Care Act. He blasted continued Republican efforts to repeal the law. (April 17) Video provided by AP
Powered by NewsLook.com
Is Apathy A Sign Of A Shrinking Brain?

Is Apathy A Sign Of A Shrinking Brain?

Newsy (Apr. 17, 2014) — A recent study links apathetic feelings to a smaller brain. Researchers say the results indicate a need for apathy screening for at-risk seniors. Video provided by Newsy
Powered by NewsLook.com
Could Even Casual Marijuana Use Alter Your Brain?

Could Even Casual Marijuana Use Alter Your Brain?

Newsy (Apr. 16, 2014) — A new study conducted by researchers at Northwestern and Harvard suggests even casual marijuana use can alter your brain. Video provided by Newsy
Powered by NewsLook.com
Thousands Of Vials Of SARS Virus Go Missing

Thousands Of Vials Of SARS Virus Go Missing

Newsy (Apr. 16, 2014) — A research institute in Paris somehow misplaced more than 2,000 vials of the deadly SARS virus. 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:
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