Researchers have shown that restoring the protein encoded by Snx27 in the mouse model for Down syndrome improves cognitive function and behaviour. It is suggested that the extra copy of chromosome 21 in people with Down Syndrome triggers the loss of the SNX27 protein and could be the cause of learning and memory problems associated with the condition. For more on this story see http://www.bbc.co.uk/news/health-21900954.
www.genenames.org/cgi-bin/hgnc_downloads.cgi no longer exists as explained below and in a previous news article. All users wanting to use our custom downloads tool must use the newer http://www.genenames.org/cgi-bin/hgnc_downloads url.
The URL to the Custom Downloads application within our site has changed recently from http://www.genenames.org/cgi-bin/hgnc_downloads.cgi to http://www.genenames.org/cgi-bin/hgnc_downloads. The old hgnc_downloads.cgi URL currently still works and points to the new version however, this URL will cease to exist on 11th March 2013. Please update your bookmark links and scripts to http://www.genenames.org/cgi-bin/hgnc_downloads ASAP. For more information about the new "Custom Downloads" application please read our HGNC Newsletter Winter 2012-2013 issue.
Researchers have transfected guinea pig hearts with a copy of the human TBX18 gene to create a new biological pacemaker that controls heartbeat. The TBX18 gene is active in human embryonic hearts at the stage where pacemaker cells are formed. The study has led to hopes that the technique may work for human hearts in the future. For more on this story see www.bbc.co.uk/news/health-20713986.
Studies in mice have cast light on why mutations in the SYNGAP1 gene cause intellectual disability in humans. Mice carrying mutated copies of Syngap1 showed above average levels of synaptic communication between neurons. It is thought that this results in disruption of brain development. For more on this story, see www.bbc.co.uk/news/health-20251119.
A recent study has found that specific variants of the PARK2 gene are associated with lumbar disc degeneration. The disc degeneration causes nearby vertebrae to develop osteophytes, resulting in lower back pain. For more on this story see www.bbc.co.uk/news/health-19674045