Top of page

Researchers identify new genetic link to schizophrenia

Young sad woman with schizophrenia hearing voices in her head

Cardiff University researchers have identified new mutations in a gene that provides novel insights into the biological causes of schizophrenia.

Dr Elliott Rees, a research fellow at the Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, analysed genetic data from 3,444 families affected by schizophrenia, in the largest study of its kind.

Scientists have already pinpointed specific genes that can predispose people to neuropsychiatric disorders, such as autism and developmental delay.

The study looked specifically at those high-risk genes, and found that one in particular, SLC6A1, had significantly more new mutations than expected by chance.

The mutations were very rare, found in around three in 3,000 individuals diagnosed with schizophrenia.

The importance lies not in how common the mutations are but the area of biology highlighted, namely one of the main chemical transmitters of the central nervous system, known as GABA. This points towards alterations in how brain cells communicate as a potential cause of schizophrenia.

Also, these mutations appear to substantially increase the risk of developing the condition, suggesting that treatments developed to target this system could potentially have large therapeutic effects.

The findings, published in the journal Nature Neuroscience, offer further insight into the underlying causes of schizophrenia, a frequently severe mental health condition that can cause hallucinations and delusions.

The ultimate goal is to develop new therapies for the condition, which affects about 1% of the world’s population – and 600,000 people in the UK.


You might also like

Doctor's hand holds test tube in blood Doctor's hand holds test tube in blood

HIV testing disparities identified in intellectual disability care

People with disabilities are often at higher risk for exposure…

man holding his painful knee man holding his painful knee

Rheumatoid arthritis drug shows preventive potential in clinical trial

Results from a Phase 2b clinical trial, published in The…

a teenage with autism relaxing with rocking chair a teenage with autism relaxing with rocking chair

Rising number of at-risk youth with autism and ID in US foster care

Youth with foster care involvement have an increased risk for…

Low-dose radiation demonstrates promise in TBI and stroke therapy

New research suggests that low-dose ionising radiation (LDIR), such as X-ray…