X marks the spot -- TBL1X gene involved in autism spectrum disorder

November 4, 2011

Autism Spectrum Disorder (ASD) affects about 1 in 100 children resulting in a range of problems in language, communication and understanding other people's emotional cues, all of which can lead to difficulties in social situations. Boys are three to four more times as likely to be affected as girls and consequently it has been suggested that the genes involved in this disorder may be linked to the X chromosome. New research published in BioMed Central's open access journal Molecular Autism used genome wide association study (GWAS) data to find a variation in the gene for transducin ß-like 1X-linked (TBL1X) which is associated with increased risk of ASD in boys.

A team of researchers across America combined three sets of genomic data incorporating over 3000 affected children and their family members or non-related case control individuals. The GWAS study compared single nucleotide polymorphisms (SNP) on the X chromosomes of the children with ASD to the control groups, and found differences within the genes for Duchenne muscular dystrophy (DMD), IL1RAPL2 (involved in inflammation), and in TBL1X. TBL1X is part of the Wnt-signaling pathway, which is in turn part of the complex mechanism controlling embryonic neurological development and the maintenance of brain function in adults.

Prof Eden Martin from the Hussman Institute for Human Genomics, who lead the multi-centre team explained, "The SNP in TBL1X is associated with an increase in risk for ASD of about 15%. This could reflect either an unidentified rare mutation (or mutations), which has large impact, or a more common change with a more subtle effect, on the development of ASD. Further study of TBL1X will help us to pinpoint the DNA changes involved and help us to understand exactly how these changes and the Wnt-signaling pathway is involved in ASD."

Related Stories

Recommended for you

Experimental MERS vaccine shows promise in animal studies

July 28, 2015

A two-step regimen of experimental vaccines against Middle East respiratory syndrome (MERS) prompted immune responses in mice and rhesus macaques, report National Institutes of Health scientists who designed the vaccines. ...

Can social isolation fuel epidemics?

July 21, 2015

Conventional wisdom has it that the more people stay within their own social groups and avoid others, the less likely it is small disease outbreaks turn into full-blown epidemics. But the conventional wisdom is wrong, according ...

Lack of knowledge on animal disease leaves humans at risk

July 20, 2015

Researchers from the University of Sydney have painted the most detailed picture to date of major infectious diseases shared between wildlife and livestock, and found a huge gap in knowledge about diseases which could spread ...

IBD genetically similar in Europeans and non-Europeans

July 20, 2015

The first genetic study of inflammatory bowel disease (IBD) to include individuals from diverse populations has shown that the regions of the genome underlying the disease are consistent around the world. This study, conducted ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.