The complexity of schizophrenia has long been a barrier to understanding the disorder, with no definitive understanding of triggers, underlying biology or its unrelenting persistence after onset. Institute of Health and Biomedical Innovation (IHBI) researcher Dr Joanne Voisey is collaborating with US peers to gain a better understanding.
Extensive international study into schizophrenia has so far led to plausible explanations but not necessarily in-depth understanding. Researchers around the world agree that schizophrenia involves a combination of genetic and environmental factors. They believe the emerging research field of epigenetics is best placed to provide explanations of the disorder.
Epigenetics refers to changes in gene expression, or the distinction between active and inactive genes, that does not involve changes to the underlying DNA.
An example of a mechanism that causes these changes is DNA methylation. Dr Voisey says methylation profiling enables the measurement of the activity of thousands of genes at once. “The methylation profiles allow us to determine differences seen between schizophrenia patients with particular symptom severity and their response to medication,” she says.
Dr Voisey is leading IHBI’s collaboration with the Walsh Research Institute in Illinois in the US, using a prestigious Hilton Family Foundation Inc grant of $165 838. An aim of the research is to provide evidence that schizophrenia is a gene-regulation disorder. Such a disorder is characterised by an abnormality or impairment in regulatory mechanisms that govern metabolism, immune response or organ function.
“Our objective is to identify specific genes that are dysregulated, so we can target them with improved treatments,” Dr Voisey says. “We also aim to use epigenetics to eventually enable identification of people at risk of developing schizophrenia and provide strategies for effective prevention.”
Beyond investigating epigenetic avenues, the collaboration will study environmental factors that can cause altered gene expression.
“Researchers are developing effective methods for identifying cancer-prevention genes that have been ‘turned off’ by environmental factors. Our study aims to determine if a similar approach will work in schizophrenia.”
It is probable that some people are born with a predisposition to developing schizophrenia and that certain factors, including stress or use of drugs such as marijuana, LSD or speed, can trigger their first episode.
Dr Voisey says a key element missing in most research is recognition that schizophrenia may be an ‘umbrella’ term used to describe several different disorders. The Walsh Research Institute has identified three major schizophrenia biotypes based on their database of 3600 diagnosed patients.
“Our study is expected to provide sharper, more definitive evidence that schizophrenia is epigenetic in nature, validate the classification of schizophrenia into biotypes and identify specific gene-regulation abnormalities for each biotype,” she says.
The ultimate aim is to understand triggers; develop tools for identifying at-risk people and providing early diagnosis; and introduce effective prevention and treatment strategies based on the specific schizophrenia biotypes.
“I am excited to be working with the Walsh Research Institute as we have a common goal of discovering better diagnoses and treatment options for patients,” Dr Voisey says.
“It is such a debilitating disorder and antipsychotic treatments don’t target individual symptoms. Side effects can be just as negative as some of the schizophrenia symptoms. By identifying DNA methylation patterns we are targeting both environmental and genetic risk factors which may uncover more of the schizophrenia puzzle.”
A medical condition affecting the normal functioning of the brain, interfering with a person’s ability to think, feel and act. People with schizophrenia have one personality. It is a myth that those affected have a split personality.
Outside of treatment, people with schizophrenia experience persistent symptoms of what is called psychosis. These include:
- Confused thinking: The everyday thoughts that let us live our daily lives become confused and don’t join up properly.
- Delusions: Holding a belief that is not held by others of the same cultural background.
- Hallucinations: Seeing, hearing, feeling, smelling or tasting something that is not actually there. Often disembodied voices that no one else can hear.
- Associated symptoms: Low motivation and changed feelings.
- Can reduce and even eliminate the symptoms, generally including a combination of medication and community support. Both are usually essential for the best outcome.
- Medication: Can assist the brain to restore its usual chemical balance.
- Community support: Should include information, accommodation, help with finding suitable work, training and education, psychosocial rehabilitation and mutual support groups. Understanding and acceptance is very important.
This article was published in the Queensland University of Technology (QUT) Institute of Health and Biomedical Innovation (IHBI) newsletter June 2016, edition 26.