Brain and behavioural consequences of mutations in gene associated with neurodevelopmental disorders

16th Jul 2020

With the development of genetic technology over the past two decades we have been able to detect rare mutations in genes that are linked to neurodevelopment disorders.

One such neurodevelopment disorder, which is characterised by learning disabilities and autism spectrum disorder, is called Kleefstra syndrome. People normally have two copies of each gene, but in Kleefstra syndrome individuals have one non-functional copy of a gene called EHMT1.

A recent study from Cardiff University, published in the British Neuroscience Association (BNA) journal, Brain and Neuroscience Advances, has examined the brain and behavioural consequences of mutations in EHMT1 using a mouse model. Using several behavioural tasks they show that mice with only one functional copy of Ehmt1 have reduced abilities to process information, leading to deficits in how they learn. Supporting these behavioural changes, the group show that the normal electrical signals in the brain that underpin information processing are altered too.

These findings will allow us to better understand the brain mechanisms in neurodevelopment disorders associated with mutation in the gene EHMT1.

Read the full article here.

About Brain and Neuroscience Advances  

Brain and Neuroscience Advances is a peer-reviewed, open access journal, which publishes high quality translational and clinical articles from all neuroscience disciplines; including molecular, cellular, systems, behavioural and cognitive investigations.

The journal welcomes submissions in basic, translational and/or clinical neuroscience. Research papers should present novel, empirical results that are expected to be of interest to a broad spectrum of neuroscientists working in the laboratory, field or clinic. 

Brain and Neuroscience Advances is now indexed in PubMed Central.