Single gene linked to several psychiatric conditions

Thursday, 12 September, 2019

Single gene linked to several psychiatric conditions

Researchers led by Cardiff University have identified a specific gene they believe could be a key player in the changes in brain structure seen in several psychiatric conditions, such as schizophrenia and autism. Their work has been published in the journal Nature Communications and could ultimately lead towards new and more effective therapies.

Though there are a number of genetic changes that can alter the risk of psychiatric disorders, one prominent change is called copy number variation (CNV) and involves the deletion of bits of DNA. Specifically, a CNV is where DNA is deleted from one of the chromosome pairs.

Research at Cardiff’s MRC Centre for Neuropsychiatric Genetics and Genomics has previously shown that people who have these deletions of DNA have a much higher chance of psychiatric disorder — but as the deletions often contain many genes, it has so far been a mystery as to exactly which genes contribute to the increased risk. In their latest study the team focused on the deletion of the gene CYFIP1, located in a precise location of chromosome 15, known as 15q11.2, which had already been identified as an area with links to the biological abnormalities associated with psychiatric disorder.

Using cutting-edge methods and growing brain cells where one copy of CYFIP1 was missing, the team was able to show that this was linked to a thinning in myelin — an insulating layer or sheath that forms around nerves in the brain and is vital for the smooth and rapid communications between different parts of the brain. Moreover, the team was able to trace these abnormalities back to brain cells called oligodendrocytes, which are responsible for producing myelin sheaths.

“What surprised us most was how much of the 15q11.2 deletion effects could be explained by a single gene effect,” said first author Ana Silva, who carried out the work as part of her PhD studies.

“We know that the risk of suffering from a psychiatric condition is influenced by a whole host of factors related to both the physical and social environment and our genetic make-up.

“We believe that CYFIP1 is a key player in the damaging effects of the 15q11.2 deletion and, because we know what sort of brain functions this gene is involved in, we can use this knowledge to increase our understanding of psychiatric disorder and potentially find new and more effective therapies.”

Lead author Professor Lawrence Wilkinson, Scientific Director of Cardiff’s Neuroscience and Mental Health Institute, said that “the challenge now is to make biological sense of the genetics to help us understand the disease pathology and design better treatments”.

With this in mind, the team is looking for myelin abnormalities in people with the 15q11.2 deletion using facilities at the Cardiff University Brain Research Imaging Centre, as well as working out the precise mechanism that causes the CYFIP1 myelin abnormalities in order to fix it.

Professor Jeremy Hall, co-senior author and Director of the Neuroscience and Mental Health Research Institute, concluded that “we are in a strong position to exploit the rapid advances in psychiatric genetics for the benefit of patients”.

Image credit: ©

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