A SCOTTISH genetic expert is leading the way to a breakthrough in schizophrenia around the world which could help find new treatments for the condition.
Paisley scientist Michael O’Donovan, who is Professor of Psychiatric Genetics at Cardiff University, has been researching schizophrenia, which affects one in every hundred Scots, for more than 25 years and insists that they are now a step closer to understanding what causes it.
He and an international team of researchers have produced the strongest evidence yet of schizophrenia’s causes and have discovered that risk mutations disrupt a delicate chemical balance in the brain, responsible for brain development and function.
O’Donovan said: “This is not a new treatment or a new technique in diagnostics, what it is is another good step forward in trying to get to the bottom of what the biology of schizophrenia is and what causes it.
“The whole goal of this type of research is to try and use the tools of genetics to understand the fundamentals of pathology and the hope is the more we understand about the disease, the easier and more likely it becomes that other people will be able to use that information to develop new ways of treating it.
“Historically, schizophrenia has been an enigmatic disorder. Until recently, we didn’t know anything concrete about the underlying biology and over the last three years genetics is beginning to deliver a number of insights and this is the latest step forward that brings in a new bit of the picture.
“We have been studying a rare mutation which are stretches of DNA or chromosomes that are either missing a copy or have an extra copy. “We have all got some of these going on but there are certain ones that are very rare that affect the function of key genes.”
The breakthrough builds on two landmark studies led by members of the Cardiff University team, published last year in the journal Nature.
Lead author Dr Andrew Pocklington from Cardiff University’s MRC Centre for Neuropsychiatric Genetics and Genomics, said: “We’re finally starting to understand what goes wrong in schizophrenia.
“Our study marks a significant step towards understanding the biology underpinning schizophrenia, which is an incredibly complex condition and has up until very recently kept scientists largely mystified as to its origins.
“We now have what we hope is a pretty sizeable piece of the jigsaw puzzle that will help us develop a coherent model of the disease, while helping us to rule out some of the alternatives.
“A reliable model of disease is urgently needed to direct future efforts in developing new treatments, which haven’t really improved a great deal since the 1970s.”
Professor Hugh Perry, who chairs the Medical Research Council Neuroscience and Mental Health Board, said: “This work builds on our understanding of the genetic causes of schizophrenia, unravelling how a combination of genetic faults can disrupt the chemical balance of the brain.
“Scientists in the UK, as part of an international consortium, are uncovering the genetic causes of a range of mental health issues, such as schizophrenia.
“In the future, this work could lead to new ways of predicting an individual’s risk of developing schizophrenia and form the basis of new targeted treatments that are based on an individual’s genetic makeup.”
A healthy brain is able to function properly thanks to a precise balance between chemical signals that excite and inhibit nerve cell activity. Researchers studying psychiatric disorders have previously suspected that disruption of this balance contributes to schizophrenia.
Around 635,000 people in the UK will at some stage in their lives be affected by schizophrenia.
The estimated cost of schizophrenia and psychosis to society is around £11.8 billion a year.
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