New proteins discovered in recently evolved regions of the dark genome could be targeted for the diagnosis and treatment of schizophrenia and bipolar disorder, new research published today suggests.
The project follows work undertaken by a team at Cambridge University, who found proteins are produced by more than 248,000 regions of the ‘dark genome’, and these are disrupted in multiple diseases. The dark genome describes area of DNA that are not categorised as genes.
Now they have gone on to discover these new proteins can be used as biological indicators to distinguish between schizophrenia and bipolar disorder, and to identify patients who are more prone to psychosis or suicide. It could also lead to drugs to treat their conditions.
Writing in today’s edition of *Molecular Psychiatry*, the team say they believe hotspots in the dark genome that are associated with the disorders may have evolved because they have beneficial functions in human development.
However, their disruption by environmental factors leads to susceptibility to, or development of, schizophrenia or bipolar disorder.
Senior report author Dr Sudhakaran Prabakaran, formerly of the University of Cambridge’s Department of Genetics when he conducted the research, said: “By scanning through the entire genome we’ve found regions, not classed as genes in the traditional sense, which create proteins that appear to be associated with schizophrenia and bipolar disorder.
“This opens up huge potential for new druggable targets. It’s really exciting because nobody has ever looked beyond the genes for clues to understanding and treating these conditions before.”
The research suggests the genomic components of schizophrenia and bipolar disorder are specific to humans as these newly discovered regions are not found in the genomes of other vertebrates.
As most of the available drugs are designed to target proteins coded by genes, the researchers hope their new finding could lead to new targets for future treatments.
Dr Prabakaran, who has gone on to create NonExomics, to commercialise this and other discoveries, has now discovered 248,000 regions of DNA outside of the regions conventionally defined as genes, which code for new proteins that are disrupted in disease.
Erady C, Amin K, Onilogbo TOAE et al. Novel open reading frames in human accelerated regions and transposable elements reveal new leads to understand schizophrenia and bipolar disorder. *Molecular Psychiatry* 23 December 2021; doi: 10.1038/s41380-021-01405-6
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