Featured Research

from universities, journals, and other organizations

Discovery Of New Cause Of Mental Retardation Simplifies Search For Treatments

Date:
January 25, 2008
Source:
Flanders Institute for Biotechnology
Summary:
Two to three children in 100 are born with a mental handicap. This can be caused by a genetic defect, but in 80 percent of the cases scientists do not know which genes are responsible. Now, researchers have discovered that, in a portion of these patients, the mental retardation is caused by a two-fold production of two proteins.

Two two three children in 100 are born with a mental handicap. This can be caused by a genetic defect, but in 80% of the cases scientists do not know which genes are responsible. Now, VIB researchers connected to the Katholieke Universiteit Leuven, in collaboration with an Australian research team, have discovered that, in a portion of these patients, the mental retardation is caused by a twofold production of two proteins (HSD17B10 and HUWE1). This is the first time that scientists have found that duplication of a protein leads to mental retardation. The discovery offers promising possibilities in the search for remedies, because it's easier to reduce an over-production of a protein than to repair a defective protein or to replace a missing protein.

Related Articles


Defects on the X-chromosome

Mental retardation occurs in 2 - 3% of our population. This can be attributed to external factors (such as a shortage of oxygen at birth) or to defects in the DNA. When the cause is genetic (hereditary), identifying the precise defect is crucial for the patient's medical support or for assessing the risk of having children. Scientists estimate that, in about 30% of the patients, a defect on the X-chromosome is the underlying cause. This is called X-linked mental retardation (XLMR). In over half of the XLMR patients, the gene responsible has not yet been identified.

Two proteins in the leading role

Guy Froyen and his colleagues in the Human Genome Laboratory (VIB -- K.U. Leuven) teamed up with Jozef Gécz's research group (University of Adelaide, Australia) to look for new genes that might lie at the basis of XLMR. With the aid of a very specialized molecular technology (X-chromosome specific array CGH), they studied the genes of some 300 XLMR families. In 6 of the families, they discovered that a certain part of the X-chromosome had been duplicated. Because of this duplication, two proteins, HSD17B10 and HUWE1, were produced in too high a concentration. The researchers in Leuven also found small alterations in both proteins in other XLMR patients. Through this research, they are uncovering the important role that these proteins play in the development of the brain's memory center.

A new mechanism opens possibilities

The VIB scientists' research is showing for the first time that the duplication of a chromosome region whereby proteins are produced in too high a concentration can lead to mental retardation. This is totally new information in the current understanding of genetic causes of mental retardation without attendant symptoms. Scientists have thought that defects that stop production of a protein, or cause it to be produced in a defective way, could lie at the basis of this disorder. The new discovery that too much of a protein can also cause mental retardation has a major impact on the quest for new therapies or medicines. Indeed, it's easier to scale back an over-production of a protein than to repair a defective protein.

Consequences for detecting and treating XLMR

The research being conducted by Guy Froyen and his colleagues presents new possibilities for detecting and treating XLMR. Tests can now be designed with which scientists can look for duplication of, and defects in, HSD17B10 and HUWE1. Developing a new treatment for XLMR, however, will require further research. Scientists must first gain greater insight into the role these proteins play in the body, and more specifically, in the brain. Research models are now being set up for this effort.


Story Source:

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


Cite This Page:

Flanders Institute for Biotechnology. "Discovery Of New Cause Of Mental Retardation Simplifies Search For Treatments." ScienceDaily. ScienceDaily, 25 January 2008. <www.sciencedaily.com/releases/2008/01/080124132517.htm>.
Flanders Institute for Biotechnology. (2008, January 25). Discovery Of New Cause Of Mental Retardation Simplifies Search For Treatments. ScienceDaily. Retrieved October 24, 2014 from www.sciencedaily.com/releases/2008/01/080124132517.htm
Flanders Institute for Biotechnology. "Discovery Of New Cause Of Mental Retardation Simplifies Search For Treatments." ScienceDaily. www.sciencedaily.com/releases/2008/01/080124132517.htm (accessed October 24, 2014).

Share This



More Health & Medicine News

Friday, October 24, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Breakfast Debate: To Eat Or Not To Eat?

Breakfast Debate: To Eat Or Not To Eat?

Newsy (Oct. 23, 2014) — Conflicting studies published in the same week re-ignited the debate over whether we should be eating breakfast. Video provided by Newsy
Powered by NewsLook.com
Ebola Fears Keep Guinea Hospitals Empty

Ebola Fears Keep Guinea Hospitals Empty

AP (Oct. 23, 2014) — Fears of Ebola are keeping doctors and patients alike away from hospitals in the West African nation of Guinea. (Oct. 23) Video provided by AP
Powered by NewsLook.com
Despite Rising Death Toll, Many Survive Ebola

Despite Rising Death Toll, Many Survive Ebola

AP (Oct. 23, 2014) — The family of a Dallas nurse infected with Ebola in the US says doctors can no longer detect the virus in her. Despite the mounting death toll in West Africa, there are survivors there too. (Oct. 23) Video provided by AP
Powered by NewsLook.com
Orthodontist Mom Jennifer Salzer on the Best Time for Braces

Orthodontist Mom Jennifer Salzer on the Best Time for Braces

Working Mother (Oct. 22, 2014) — Is your child ready? Video provided by Working Mother
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