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

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."

add to favorites email to friend print save as pdf

Related Stories

Toward a long-sought saliva test for autism

Jan 12, 2009

Researchers in Italy are reporting discovery of abnormal proteins in the saliva of autism patients that could eventually provide a clue for the molecular basis of this severe developmental disorder and could be used as a ...

Brain scans detect autism's signature

Nov 15, 2010

An autism study by Yale School of Medicine researchers using functional magnetic resonance imaging (fMRI) has identified a pattern of brain activity that may characterize the genetic vulnerability to developing autism spectrum ...

Recommended for you

US looking past Ebola to prepare for next outbreak

6 hours ago

The next Ebola or the next SARS. Maybe even the next HIV. Even before the Ebola epidemic in West Africa is brought under control, U.S. public health officials are girding for the next health disaster.

Can robots help stop the Ebola outbreak?

14 hours ago

The US military has enlisted a new germ-killing weapon in the fight against Ebola—a four-wheeled robot that can disinfect a room in minutes with pulses of ultraviolet light.

New bird flu case in Germany

14 hours ago

A worrying new strain of bird flu has been observed for the first time in a wild bird in northern Germany, the agriculture ministry said Saturday.

Mali announces new Ebola case

Nov 22, 2014

Mali announced Saturday a new case of Ebola in a man who is fighting for his life in an intensive care unit in the capital Bamako.

Plague outbreak kills 40 in Madagascar: WHO

Nov 22, 2014

An outbreak of plague has killed 40 people in Madagascar, the World Health Organization said, warning that the disease could spread rapidly in the country's densely populated capital Antananarivo.

User 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.