PRESS-NEWS.org - Press Release Distribution
PRESS RELEASES DISTRIBUTION

Gene linked to common intellectual disability

2013-11-14
(Press-News.org) Contact information: Cheryl Shoubridge
cheryl.shoubridge@adelaide.edu.au
61-881-618-105
University of Adelaide
Gene linked to common intellectual disability University of Adelaide researchers have taken a step forward in unravelling the causes of a commonly inherited intellectual disability, finding that a genetic mutation leads to a reduction in certain proteins in the brain.

ARX is among the top four types of intellectual disability linked to the X-chromosome in males. So far, 115 families, including many large Australian families, have been discovered to carry an ARX (Aristaless related homeobox) mutation that gives rise to intellectual disability.

"There is considerable variation in the disability across families, and within families with a single mutation. Symptoms among males always include intellectual disability, as well as a range of movement disorders of the hand, and in some cases severe seizures," says Associate Professor Cheryl Shoubridge, Head of Molecular Neurogenetics with the University of Adelaide's Robinson Institute.

ARX mutations were first discovered by the University of Adelaide's Professor Jozef Gecz in 2002. To date, researchers have detected 52 different ARX mutations and 10 distinct clinical syndromes.

Associate Professor Shoubridge is lead author of a new paper on ARX intellectual disability published in the journal Human Molecular Genetics.

In laboratory studies, Associate Professor Shoubridge's team has shown that mutations lead to a significant reduction in ARX proteins in the brain, but the actual causes and mechanisms involved in this remain unknown. Her team tested six genes that the ARX protein interacts with, and found that one of them – a gene likely to be important to early brain development – appears to be adversely affected by the reduction of ARX proteins.

"This plays an important role in setting up architecture and networks in the brain, which become disrupted due to the mutation," Associate Professor Shoubridge says.

"The discovery of this genetic link is an important step forward but there is still much work to be done. We're now looking further at the mechanism of the reduction in ARX protein and what that means for the brain at a functional level."

Associate Professor Shoubridge says up to 3% of the population is affected by some kind of intellectual disability, costing $14.7 billion each year in Australia alone.

"The personal cost to families is enormous, especially in the most severe cases. Being able to unravel why and how these disabilities occur is very important to us and to the many people whose lives are affected by these conditions," she says.

### This research has been funded by the Australian Research Council (ARC) and the National Health and Medical Research Council (NHMRC).

Media contact:

Associate Professor Cheryl Shoubridge
Head, Molecular Neurogenetics
Robinson Institute
The University of Adelaide
Phone: +61 8 8161 8105
cheryl.shoubridge@adelaide.edu.au


ELSE PRESS RELEASES FROM THIS DATE:

Fossil of new big cat species discovered; oldest ever found

2013-11-14
Fossil of new big cat species discovered; oldest ever found 4-million-year-old skull of relative of snow leopard fleshes out fossil record of big cats and challenges suppositions about how and where they evolved The oldest big cat fossil ever found – ...

Rapid testing to diagnose influenza leads to more appropriate care in the ED

2013-11-14
Rapid testing to diagnose influenza leads to more appropriate care in the ED When patients in the emergency department (ED) are diagnosed with influenza by means of a rapid test, they get fewer unnecessary antibiotics, are prescribed antiviral ...

Molecule common in some cancers, rheumatoid arthritis leads to potential therapy for both

2013-11-14
Molecule common in some cancers, rheumatoid arthritis leads to potential therapy for both WASHINGTON — A molecule that helps cells stick together is significantly over-produced in two very different diseases — rheumatoid arthritis and a variety of cancers, including ...

Primary care key to management of patients with HIV infection

2013-11-14
Primary care key to management of patients with HIV infection Updated HIVMA Guidelines indicate doctors should focus on common health conditions [EMBARGOED FOR NOV. 14, 2013, ARLINGTON, Va.] – The HIV Medicine Association (HIVMA) of the Infectious Diseases ...

Accidental discovery dramatically improves electrical conductivity

2013-11-14
Accidental discovery dramatically improves electrical conductivity Crystal could improve performance of electronic devices PULLMAN, Wash.—Quite by accident, Washington State University researchers have achieved a 400-fold increase in the electrical conductivity ...

Using airport screening technology to visualize waves in fusion plasma

2013-11-13
Using airport screening technology to visualize waves in fusion plasma Millimeter-wave imaging helps scientists better understand and manage plasma instabilities Millimeter-wave imaging technology is widely used in airborne radar, automotive sensors and full-body ...

New links between social status and brain activity

2013-11-13
New links between social status and brain activity Social stability affects the production of new brain cells; ability of brain to adapt is key to coping with hierarchies and stress SAN DIEGO — New studies released today reveal links between social status and specific ...

Can the eyes help diagnose Alzheimer's disease?

2013-11-13
Can the eyes help diagnose Alzheimer's disease? VIDEO: Scott Turner, M.D., Ph.D., discusses research to be presented at the Neuroscience 2013 meeting. He and an ...

Breathalyzer technology detects acetone levels to monitor blood glucose in diabetics

2013-11-13
Breathalyzer technology detects acetone levels to monitor blood glucose in diabetics Groundbreaking research to be featured at 2013 AAPS Annual Meeting and Exposition Arlington, Va. — A novel hand-held, noninvasive monitoring device that uses ...

New compound inhibits cognitive impairment in animal models of Alzheimer's disease

2013-11-13
New compound inhibits cognitive impairment in animal models of Alzheimer's disease Promising research to be featured at 2013 AAPS Annual Meeting and Exposition Arlington, Va. — The novel compound IRL-1620 may be useful in treating Alzheimer's ...

LAST 30 PRESS RELEASES:

Novel treatment combination improves progression-free survival in metastatic, estrogen-receptor-positive HER-2-negative breast cancer

ESMO 2025: Trial results show belzutifan shrinks rare neuroendocrine tumors and improves symptoms in patients

ESMO 2025: Dual targeted therapy shows promise in previously treated advanced kidney cancer patients

New generation of Antibody-Drug Conjugates (ADCs) shows unprecedented promise in early-stage disease

Sylvester Cancer Tip Sheet for October 2025

Three science and technology leaders elected to Hertz Foundation Board of Directors

Jump Trading CSO Kevin Bowers elected to Hertz Foundation Board of Directors

Former Inscripta CEO Sri Kosaraju elected to Hertz Foundation Board of Directors

Citadel’s Jordan Chetty elected to Hertz Foundation Board of Directors

McGill research flags Montreal snow dump, inactive landfills as major methane polluters

A lightweight and rapid bidirectional search algorithm

Eighty-five years of big tree history available in one place for the first time

MIT invents human brain model with six major cell types to enable personalized disease research, drug discovery

Health and economic air quality co-benefits of stringent climate policies

How immune cells deliver their deadly cargo

How the brain becomes a better listener: How focus enhances sound processing

Processed fats found in margarines unlikely to affect heart health

Scientists discover how leukemia cells evade treatment

Sandra Shi MD, MPH, named 2025 STAT Wunderkind

Treating liver disease with microscopic nanoparticles

Chemicals might be hitching a ride on nanoplastics to enter your skin

Pregnant patients with preexisting high cholesterol may have elevated CV risk

UC stroke experts discuss current and future use of AI tools in research and treatment

The Southern Ocean’s low-salinity water locked away CO2 for decades, but...

OHSU researchers develop functional eggs from human skin cells

Most users cannot identify AI bias, even in training data

Hurricane outages: Analysis details the where, and who, of increased future power cuts

Craters on surface of melanoma cells found to serve as sites for tumor killing

Research Spotlight: Mapping overlooked challenges in stroke recovery

Geographic and temporal patterns of screening for breast, cervical, and colorectal cancer in the US

[Press-News.org] Gene linked to common intellectual disability