Schizophrenia Has Been Linked To Genetics - What Can We Do?

The discovery opens up considerable treatment implications


Thanks to a study of over 65,000 people, conducted by researchers from the Broad Institute’s Stanley Centre for Psychiatric Research, the first link between schizophrenia and genetics has been discovered.

One in four people - according to a separate survey of 5000 - have been diagnosed with a mental illness at some point in their lives, with depression by far the most common recorded. Less common illnesses - ‘serious conditions’ such as schizophrenia and bipolar disorder - account for just 3% or less, with around 1% of the population suffering from schizophrenia in particular.

Despite the widespread cases - and an increased awareness - of mental illness, perceptions have been slow to catch up with the facts, with a fifth of people still believing that one of primary causes is a lack of self-discipline and willpower. Through increased understanding of the genetic causes of such afflictions, researchers hope that the stigma attached to mental illness can be tackled, alongside the development of more sophisticated treatment.

The underlying biology of schizophrenia has, largely, been considered a ‘black box’ by researchers. It was known that there was a genetic component to the illness but the Stanley Centre’s findings have confirmed that the process known as ‘synaptic pruning’, brought on by the genetic variant ‘component 4’ (C4) have an affect on an individuals likelihood of developing the condition.

C4 emerged as a suspect because of its variability across individuals and its resultant capacity to over-activate. The ’pruning’ it facilitates is the elimination of redundant connections between neurons, streamlining the brain for optimal performance. Excessive pruning can affect brain functions and has been confirmed as a cause of schizophrenia, and is most active during adolescence. In 2014, another study found nearly 100 genomic links with the illness, a number that has been essentially reduced to one thanks to the Broad Institute’s work.

The hope is that, as in the case of some cancers, increased understanding of how schizophrenia works could lead to far more effective developments in not only treatment but prevention. ’We’ve seen the power of understanding the biological mechanism of disease in other settings,’ Eric Lander, director of the Broad Institute, said. ‘Early discoveries about the biological mechanisms of cancer have led to many new treatments and hundreds of additional drug candidates in development. Understanding schizophrenia will similarly accelerate progress against this devastating disease that strikes young people.’

According to Bruce Cuthbert, acting director of the National Institute of Mental Health (NIMH), the findings represent a ‘crucial turning point in the fight against mental illness.’ If found, a therapy that ‘turns down’ the level of synaptic pruning in individuals early on could be an extremely helpful form of prevention, allowing intervention at a much earlier stage than conventional treatment methods. ‘Thanks to this genetic breakthrough, we can finally see the potential for clinical tests, early detection, new treatments and even prevention,’ Cuthbert said.

Whilst the findings are undeniably monumental, some experts have warned that the discovery is just one piece of the much larger puzzle that connects genetic variants with mental illness. Even so, better therapeutic treatment programs will likely be developed on the back of the research - some way down the line, though - and the positives could reach further than just schizophrenia. 

Pharma small

Read next:

R&D Innovation Approach In Pharmaceutical Industry