Navigation Links
Gene linked to common intellectual disability
Date:11/13/2013

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 p
'/>"/>

Contact: Cheryl Shoubridge
cheryl.shoubridge@adelaide.edu.au
61-881-618-105
University of Adelaide
Source:Eurekalert

Page: 1 2

Related biology news :

1. Kidney damage in first responders linked to 9/11
2. Vinyl flooring linked to potentially harmful substances at schools and daycare centers
3. Mild cognitive impairment in Parkinsons disease may be linked with extensive neurodegeneration
4. Lifestyle, age linked to diabetes-related protein
5. Gut microbes closely linked to proper immune function, other health issues
6. Early-onset Parkinsons disease linked to genetic deletion
7. Epilepsy drug dosage linked to specific birth defects
8. Vigorous physical activity linked to lower incidence of obesity in young African-American women
9. DHA-enriched formula in infancy linked to positive cognitive outcomes in childhood
10. Genetic mutations linked to Parkinsons disease
11. Neuroscientists identify protein linked to Alzheimers-like afflictions
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/17/2014)... to produce hydrogen sulfide in order to properly multiply ... from the Center for Craniofacial Molecular Biology at the ... Songtao Shi, principal investigator on the project, said the ... the flow of calcium ions. The essential ions activate ... or the creation of new bone tissue, and keeps ...
(Date:4/17/2014)... and fragmentation of forests in the Amazon help ... contributing to rapid and widespread forest loss during ... The findings show that forests in the Amazon ... coupled with forest fires lead to large-scale loss ... Balch, assistant professor of geography, Penn State. , ...
(Date:4/17/2014)... have detected new early-warning signs of the potential loss ... far-reaching implications for the diagnosis and treatment of diabetic ... Americans. , "We had not expected to see such ... said Ann Elsner, professor and associate dean in the ... study. "We set out to study the early signs, ...
Breaking Biology News(10 mins):Drought and fire in the Amazon lead to sharp increases in forest tree mortality 2Drought and fire in the Amazon lead to sharp increases in forest tree mortality 3New technique detects microscopic diabetes-related eye damage 2New technique detects microscopic diabetes-related eye damage 3
... NEW YORK, Dec. 14, 2010 Reportlinker.com announces that ... catalogue: Global Biochip Markets: Microarrays and ... INTRODUCTION  STUDY GOALS ... study was to determine the status of current and ...
... Sustainability is the theme for the 65th Annual International ... in Portland June 19 to 21. Hundreds of scientists, ... non-profit groups, and private industry will gather to discuss ... information about innovations in the field., "The theme of ...
... (June 10, 2011) The Academy of Natural Sciences ... FMC Corporation to help Philadelphia public middle school students and ... career opportunities in the sciences. The $25,000 grant from the ... Academy for some 800 6th through 8th graders and their ...
Cached Biology News:Reportlinker Adds Global Biochip Markets: Microarrays and Lab-on-a-Chip 2Reportlinker Adds Global Biochip Markets: Microarrays and Lab-on-a-Chip 3Reportlinker Adds Global Biochip Markets: Microarrays and Lab-on-a-Chip 4Reportlinker Adds Global Biochip Markets: Microarrays and Lab-on-a-Chip 5Reportlinker Adds Global Biochip Markets: Microarrays and Lab-on-a-Chip 6Reportlinker Adds Global Biochip Markets: Microarrays and Lab-on-a-Chip 7Reportlinker Adds Global Biochip Markets: Microarrays and Lab-on-a-Chip 8Reportlinker Adds Global Biochip Markets: Microarrays and Lab-on-a-Chip 9Reportlinker Adds Global Biochip Markets: Microarrays and Lab-on-a-Chip 10Reportlinker Adds Global Biochip Markets: Microarrays and Lab-on-a-Chip 11Reportlinker Adds Global Biochip Markets: Microarrays and Lab-on-a-Chip 12Reportlinker Adds Global Biochip Markets: Microarrays and Lab-on-a-Chip 13Reportlinker Adds Global Biochip Markets: Microarrays and Lab-on-a-Chip 14Reportlinker Adds Global Biochip Markets: Microarrays and Lab-on-a-Chip 15Grant funds science career days for Philadelphia public school students 2
(Date:1/15/2014)... January 15, 2014 Look inside the ... items for the lab, from fluid handling to instruments ... to ship when you order. , Preferred Solutions ... , from the L/S® model for precise flow control ...
(Date:1/15/2014)... 15, 2014 This webinar will focus ... clinical safety assessment in biosimilars. , Regulatory frameworks are ... drug development, however the complex nature of biopharmaceuticals makes ... and efficacy extremely challenging. Based on the specific aspects ...
(Date:1/15/2014)... Rochester, NY (PRWEB) January 15, 2014 The ... cause a major disease. One of these latent viruses is ... is rheumatoid arthritis (RA). Rheumatoid arthritis (RA) is a chronic ... the theory, a study found that RA patients have high ...
(Date:1/15/2014)... AudioNotch is the internet's leading provider of Notched ... tinnitus. Patients listen to sound therapy that is tailor-made ... weeks to months, their tinnitus volume decreases. , AudioNotch has ... and Notched White Noise. Now, AudioNotch is pleased to announce ...
Breaking Biology Technology:Cole-Parmer Begins 2014 with the Release of Preferred Solutions 2Xtalks Life Sciences Webinar Examines Safety Assessment of Biosimilars 2Study: Rheumatoid Arthritis (RA) Patients Have EBV; The CBCD Says this is Consistent with Microcompetition 2Study: Rheumatoid Arthritis (RA) Patients Have EBV; The CBCD Says this is Consistent with Microcompetition 3
... Nov. 3, 2010 Sangamo BioSciences, Inc. ... has been awarded a total of $978,000 in grants ... Discovery Project Program. Under the recently ... section 48D of the Internal Revenue Code, cash grants ...
... ... ... var shortURL ... we need to grab the first one. for (var r in data.results) { first_result = data.results[r]; break; } for ...
... Mass., Nov. 2, 2010 Repligen Corporation (Nasdaq: ... quarter of fiscal year 2011, ended September 30, 2010. ... to total revenue of $5,421,000 for the second quarter ... 35%.  Bioprocessing product revenue for the second quarter was ...
Cached Biology Technology:Sangamo BioSciences Awarded Grants for the Development of Four ZFP Therapeutic® Programs 2Sangamo BioSciences Awarded Grants for the Development of Four ZFP Therapeutic® Programs 3IGEN NETWORKS ANNOUNCES THE APPOINTMENT OF TWO NEW MEMBERS TO THE ADVISORY BOARD 2IGEN NETWORKS ANNOUNCES THE APPOINTMENT OF TWO NEW MEMBERS TO THE ADVISORY BOARD 3IGEN NETWORKS ANNOUNCES THE APPOINTMENT OF TWO NEW MEMBERS TO THE ADVISORY BOARD 4IGEN NETWORKS ANNOUNCES THE APPOINTMENT OF TWO NEW MEMBERS TO THE ADVISORY BOARD 5IGEN NETWORKS ANNOUNCES THE APPOINTMENT OF TWO NEW MEMBERS TO THE ADVISORY BOARD 6IGEN NETWORKS ANNOUNCES THE APPOINTMENT OF TWO NEW MEMBERS TO THE ADVISORY BOARD 7IGEN NETWORKS ANNOUNCES THE APPOINTMENT OF TWO NEW MEMBERS TO THE ADVISORY BOARD 8IGEN NETWORKS ANNOUNCES THE APPOINTMENT OF TWO NEW MEMBERS TO THE ADVISORY BOARD 9Repligen Reports Second Quarter Fiscal Year 2011 Financial Results 2Repligen Reports Second Quarter Fiscal Year 2011 Financial Results 3Repligen Reports Second Quarter Fiscal Year 2011 Financial Results 4Repligen Reports Second Quarter Fiscal Year 2011 Financial Results 5Repligen Reports Second Quarter Fiscal Year 2011 Financial Results 6Repligen Reports Second Quarter Fiscal Year 2011 Financial Results 7
... CC1041 is a recombinant 177 amino ... Gly265 of mature human MT1-MMP. Produced ... of MT1-MMP purified from E. coli periplasm. ... catalytic domain is = 140 mU/mg, where ...
... mM sodium phosphate buffer, pH 6.5. Cathepsin ... a major lysosomal aspartyl protease in mammalian ... Overexpression of cathepsin D in human breast ... relapse and metastasis. Cathepsin D degrades extracellular ...
... in Refrigerated Vapor Trap Models RVT100, RVT400, ... Models UVS400, UVS400A and UVS800DDA., A non-corrosive, ... use for temperatures ranging from -105 to ... stability and does not evaporate. Far superior ...
Rat Cardiac Fibroblasts (RCF) (>500,000 cells)...
Biology Products: