Featured Research

from universities, journals, and other organizations

Fragile X Syndrome May Be Caused By Two Duplicated Genes Producing Excess Protein

Date:
February 1, 2008
Source:
University of Adelaide
Summary:
Scientists have achieved a major breakthrough in discovering the causes of intellectual disability from fragile X syndrome. Intellectual disability affects 1-3% of the world's population, with 30% more men affected than women.

University of Adelaide geneticist Dr Jozef Gecz and a team of Belgium and UK scientists have achieved a major breakthrough in discovering the causes of intellectual disability. Intellectual disability affects 1-3% of the world's population, with 30% more men affected than women.

Dr Gecz, a senior researcher who is based at the Women's and Children's Hospital in Adelaide, has collaborated with an international research team to reveal that various mutations of a small part of the X chromosome lead to mental retardation.

Dr Gecz says the duplicated genes - dubbed HSD17B10 and HUWE1 - produce excess protein, which appears to be the trigger leading to intellectual disability.

The researchers used specialised molecular technology to study the X chromosomes of more than 500 families diagnosed with various forms of X chromosome-linked mental retardation.

In six of the families they discovered that a certain part of the X chromosome had been duplicated. Four of these families were from Australia. Moreover, in one of these genes, HUWE1, they identified a further three mutations in another three families, one of them from Australia.

"HUWE1 is a protein, which regulates TP53, an important tumour suppressor gene. One of TP53's functions is to regulate the renewal of neuronal cells in the brain. That is where we see the connection with HUWE1 and intellectual disability," Dr Gecz says.

"Through this research we hope to uncover the important role that these genes and their proteins play in the normal brain development and thus learning and memory."

This research is reported in the February issue of the American Journal of Human Genetics and comes after an intensive collaboration with scientists from the Katholieke Universiteit Leuven in Belgium, the Wellcome Trust Sanger Institute in Cambridge, England and the Genetics of Learning Disability (GOLD) Service in NSW.

Dr Gecz's research has been funded by the Australian National Health and Medical Research Council Program grant, which is administered through the University of Adelaide.

Dr. Gecz said "Our next step is to see how frequent these mutations are among the isolated cases. Also, we will try to understand the molecular pathology of the associated disease and investigate the routes for possible future interventions and treatments."


Story Source:

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


Cite This Page:

University of Adelaide. "Fragile X Syndrome May Be Caused By Two Duplicated Genes Producing Excess Protein." ScienceDaily. ScienceDaily, 1 February 2008. <www.sciencedaily.com/releases/2008/01/080131091343.htm>.
University of Adelaide. (2008, February 1). Fragile X Syndrome May Be Caused By Two Duplicated Genes Producing Excess Protein. ScienceDaily. Retrieved August 30, 2014 from www.sciencedaily.com/releases/2008/01/080131091343.htm
University of Adelaide. "Fragile X Syndrome May Be Caused By Two Duplicated Genes Producing Excess Protein." ScienceDaily. www.sciencedaily.com/releases/2008/01/080131091343.htm (accessed August 30, 2014).

Share This




More Health & Medicine News

Saturday, August 30, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

We've Got Mites Living In Our Faces And So Do You

We've Got Mites Living In Our Faces And So Do You

Newsy (Aug. 30, 2014) A new study suggests 100 percent of adult humans (those over 18 years of age) have Demodex mites living in their faces. Video provided by Newsy
Powered by NewsLook.com
Liberia Continues Fight Against Ebola

Liberia Continues Fight Against Ebola

AFP (Aug. 30, 2014) Authorities in Liberia try to stem the spread of the Ebola epidemic by raising awareness and setting up sanitation units for people to wash their hands. Duration: 00:41 Video provided by AFP
Powered by NewsLook.com
California Passes 'yes-Means-Yes' Campus Sexual Assault Bill

California Passes 'yes-Means-Yes' Campus Sexual Assault Bill

Reuters - US Online Video (Aug. 30, 2014) California lawmakers pass a bill requiring universities to adopt "affirmative consent" language in their definitions of consensual sex, part of a nationwide drive to curb sexual assault on campuses. Linda So reports. Video provided by Reuters
Powered by NewsLook.com
3 Things To Know About The Ebola Outbreak's Progression

3 Things To Know About The Ebola Outbreak's Progression

Newsy (Aug. 29, 2014) Here are three things you need to know about the deadly Ebola outbreak's progression this week. 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