Neuroscientists from Cardiff University have identified an important function of what they believe is schizophrenia’s ‘Rosetta Stone’ gene. They explain their findings in the Journal Science, highlighting the previously unidentified role of the gene in healthy brain development, and how this study could be vital in deciphering the role of many other genes associated with schizophrenia.

Understanding Schizophrenia

Schizophrenia affects about one percent of the worldwide population. It is estimated that about 635,000 individuals in the UK will, at some point in their lives, develop the disorder. The costs of managing and treating the disease goes up to almost £11.8 billion per annum.

Schizophrenia has rather disruptive symptoms, hugely affecting a person’s ability to effectively perform everyday tasks such as going to work, maintaining commitments and looking after themselves and loved ones.

Previous studies have revealed various genes that are responsible for creating synaptic proteins linked to the development of schizophrenia and other disorders of the brain. However, the reasons behind this were not understood until now.

Forming The Framework

The gene in question is called ‘disrupted in schizophrenia-1’ (DISC-1). Previous studies have revealed that a mutation in this gene drastically increases the likelihood of developing mental illnesses such as major clinical depression and bipolar disorder. The altered gene damages the ability to think coherently and as a result, disrupts normal perception.

The aim of this study was to establish whether, the interactions of DISC-1 with other proteins during early stages of brain development, affected the brain’s ability to mould its structure and function – plasticity – in adulthood. The research team, led by Professor Kevin Fox from Cardiff University’s School of Biosciences, found that for healthy synaptic development in the brain, the DISC-1 gene needed to bind with two molecules – ‘Lis’ and ‘Nudel’.

Discovering the Role of ‘Rosetta Stone’ Gene

Scientists experimented with mice, inhibiting DISC-1 from binding with the two molecules using a protein-releasing drug Tamoxifen. They observed that by doing so during early brain development, the brain lacked plasticity in adulthood, preventing the cortical neurons from forming synapses. However, preventing DISC-1 from binding with ‘Lis’ and ‘Nudel’ in brains that were fully formed, showed no affect on plasticity.

“We believe that DISC-1 is schizophrenia’s Rosetta Stone gene, and could hold the master key to help us unlock our understanding of the role played by all risk genes involved in the disease”, stated Professor Fox.

Importance Of The Finding

The potential of these findings is highly significant – scientists have now revealed a critical period during brain development where genes involved with schizophrenia and various brain disorders exert their influence the most.

Professor Jeremy Hall, an Academic Mental Health Clinician and Director of Cardiff University’s Neuroscience and Mental Health Research Institute stated that the findings of this paper provide strong evidence of how subtle changes in early developmental stages lead to drastic alterations in adulthood. “This helps explain how early life events can increase the risk of adult mental health disorders like schizophrenia”.

The challenge now will be to find effective ways to treat people during this critical time period. Moreover, finding ways to reverse the malfunction and return the aspect of plasticity to adult brains is also a prospect. Scientists hope that one day the occurrence and persistence of schizophrenia and its symptoms could be eradicated once and for all.