An article in Nature explains that ten genes, upon severe mutation that alters genetic function, are linked to an increased risk of the development of schizophrenia.
Genome mapping is arguably the greatest scientific move towards understanding disease to date. Few regions remain ambiguous, as technology allows researchers to delve deep into the human makeup. This week, an article in Nature explains that ten genes, upon severe mutation that alters genetic function, are linked to an increased risk of the development of schizophrenia.
This discovery has journeyed a long road, as researchers attempted to narrow down exact mechanisms, but the destination wasn’t reached until U.K.-based University College London (UCL) took on the challenge. Within the college’s division of psychiatry, the Molecular Psychiatry Laboratory is headed by Professor Andrew Mcquillin, who specializes in neurobiology. Together, with the Schizophrenia Exome Sequencing Meta-analysis (SCHEMA) consortium and the Psychiatric Genomics Consortium (PGC), two separate studies were conducted, with findings published by respective institutions.
The SCHEMA-led study found that although rare, mutations that disrupt protein function within ten different genes can multiply the statistic risk a person has of developing schizophrenia. Digging deeper, the PCG study explains how risk is linked to genes prevalent in neurons alone, within 287 regions of the human genome. These cellular and genetic links could allow modern science to “develop new medications and to tailor those treatments we already have, to meet the needs of each individual”, as explained by co-author, Professor Elvira Bramon of UCL’s mental health neuroscience research department.
A comment issued by Mcquillin further explains the implications of the laboratory findings.
“Although there are large numbers of genetic variants involved in schizophrenia, the studies showed they are concentrated in genes expressed in neurons. Both the rare high-risk mutations as well as the common low-risk genetic variants are consistent and pointing us towards genes like GRIN2A, also important in epilepsy and neurodevelopmental disorders,” he said.
The puzzle pieces were connected by a study running concurrently to those previously mentioned, led by the Bipolar Exome Consortium. This study, the analysis of which was also published by Nature this week, identified AKAP11 as a gene that may act as a precursor to bipolar disorder and schizophrenia. Dr. Nick Bass of UCL’s division of psychiatry explained in the paper that the link was found via exome sequencing techniques. Modern research has shown that the two depressive disorders are linked in genetic make-up as well as treatment methods.
In 2019, the college published research preluding the discovery. The data suggest that genetic variants and neurotransmitter function have a hand in the complex nature of schizophrenia, which is a factor in the research published this week. While UCL Genetics Institute researchers of 2019 weren’t entirely sure of the mechanism causing the disruption in neurotransmitters, or the cause of genetic variation, the precursors were found.
The U.S. National Alliance on Mental Illness published statistics demonstrating the global prevalence of schizophrenia, stating that the disorder is one of the top 15 worldwide diagnoses that lead to disability. Patients have a shortened life expectancy, losing an average of 28.5 years.
In recent years, the U.S. Food and Drug Administration has approved influxes of Investigational New Drug Applications (NDA) as pharma tries to keep pace with genetic research. This collective research hints at the potential of an effective treatment emerging sooner than later.
