Featured Research

from universities, journals, and other organizations

Protein regulation linked to intellectual disability

Date:
October 25, 2012
Source:
University of Adelaide
Summary:
Genetics researchers have solved a 40-year mystery for a family beset by a rare intellectual disability -- and they've discovered something new about the causes of intellectual disability in the process.

Genetics researchers at the University of Adelaide have solved a 40-year mystery for a family beset by a rare intellectual disability -- and they've discovered something new about the causes of intellectual disability in the process.

While many intellectual disabilities are caused directly by a genetic mutation in the so-called "protein coding" part of our genes, the researchers found that in their case the answer laid outside the gene and in the regulation of proteins.

Protein regulation involves the switching on or off of a protein by specific genes. As a consequence in this case, either too much or too little of this protein can trigger the disability.

The team has studied a large (anonymous) Australian family of 100 people, who for generations have not known the source of their genetically inherited condition.

The disability -- which results in a lower IQ, behavioral problems such as aggression, and memory loss, and is linked with developmental delays, epilepsy, schizophrenia and other problems -- affects only the male family members and can be passed on by the female family members to their children.

Genetic samples taken from the family and laboratory testing involving mice have confirmed that the protein produced by the HCFC1 (host cell factor C1) gene is the cause of this disability.

"The causes of intellectual disability generally are highly variable and the genetic causes in particular are numerous. The vast majority of intellectual disabilities are due to genetic mutations in proteins, so it was rather unexpected that we found this particular disability to be due to a regulatory mutation," says the leader of the study, Professor Jozef Gecz from the University of Adelaide's School of Pediatrics and Reproductive Health.

"We've been researching this specific disability for 10 years and it's taken us the last three years to convince ourselves that the protein regulation is the key," he says.

"For the family, this means we now have a genetic test that will determine whether or not a female member of the family is a carrier, which brings various benefits for the family.

"From a scientific point of view, this widens our viewpoint on the causes of these disabilities and tells us where we should also look for answers for those families and individuals without answers.

"This is just the tip of the iceberg in understanding the impact of altered gene regulation on intellectual disability -- the gene regulatory landscape is much bigger than the protein coding landscape. We have already found, and I would expect to continue finding, a number of other intellectual disabilities linked with protein regulation over the next 20 years or so."

Professor Gecz and his team have published their findings in this month's issue of the American Journal of Human Genetics.


Story Source:

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


Journal Reference:

  1. Lingli Huang, LachlanA. Jolly, Saffron Willis-Owen, Alison Gardner, Raman Kumar, Evelyn Douglas, Cheryl Shoubridge, Dagmar Wieczorek, Andreas Tzschach, Monika Cohen, Anna Hackett, Michael Field, Guy Froyen, Hao Hu, StefanA. Haas, Hans-Hilger Ropers, VeraM. Kalscheuer, MarkA. Corbett, Jozef Gecz. A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability. The American Journal of Human Genetics, 2012; 91 (4): 694 DOI: 10.1016/j.ajhg.2012.08.011

Cite This Page:

University of Adelaide. "Protein regulation linked to intellectual disability." ScienceDaily. ScienceDaily, 25 October 2012. <www.sciencedaily.com/releases/2012/10/121025095011.htm>.
University of Adelaide. (2012, October 25). Protein regulation linked to intellectual disability. ScienceDaily. Retrieved October 1, 2014 from www.sciencedaily.com/releases/2012/10/121025095011.htm
University of Adelaide. "Protein regulation linked to intellectual disability." ScienceDaily. www.sciencedaily.com/releases/2012/10/121025095011.htm (accessed October 1, 2014).

Share This



More Health & Medicine News

Wednesday, October 1, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Some Positive Ebola News: Outbreak 'Contained' In Nigeria

Some Positive Ebola News: Outbreak 'Contained' In Nigeria

Newsy (Sep. 30, 2014) The CDC says a new case of Ebola has not been reported in Nigeria for more than 21 days, leading to hopes the outbreak might be nearing its end. Video provided by Newsy
Powered by NewsLook.com
UN Ebola Mission Head: Immediate Action Is Crucial

UN Ebola Mission Head: Immediate Action Is Crucial

AFP (Sep. 30, 2014) The newly appointed head of the United Nations Mission for Ebola Emergency Response (UNMEER), Anthony Banbury, outlines operations to tackle the virus. Duration: 00:39 Video provided by AFP
Powered by NewsLook.com
CDC Confirms First Case of Ebola in US

CDC Confirms First Case of Ebola in US

AP (Sep. 30, 2014) The CDC has confirmed the first diagnosed case of Ebola in the United States. The patient is being treated at a Dallas hospital after traveling earlier this month from Liberia. (Sept. 30) Video provided by AP
Powered by NewsLook.com
New Breast Cancer Drug Extends Lives In Clinical Trial

New Breast Cancer Drug Extends Lives In Clinical Trial

Newsy (Sep. 30, 2014) In a clinical trial, breast cancer patients lived an average of 15 months longer when they received new drug Perjeta along with Herceptin. 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