Scientists have discovered two novel genes that are linked to schizophrenia.
What is Schizophrenia?
According to the American Psychiatric Association, schizophrenia is a chronic brain condition that impacts less than 1% of the population in the US. Symptoms of the debilitating condition include hallucinations, delusions, lack of motivation, thinking troubles, and disorganized speech. However, with proper treatment, most schizophrenia symptoms improve, and recurrence likelihoods can be reduced.
As per Science Alert, like several neurological conditions, schizophrenia has complex and varied causes, most of which are unknown. However, causes seem to include a mix of biological, environmental, and genetic brain changes.
The recent findings regarding the two novel genes may boost the current understanding of brain conditions and foster new targets for treatment.
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Novel Genes Linked to Schizophrenia Risk
According to Alexander Charney, a genetic psychiatrist from Mount Sinai's Icahn School of Medicine, the study's motivation was to learn more about how rare genetic variations impact one's risk for developing severe mental conditions, specifically schizophrenia.
Recent studies have revealed that individuals with schizophrenia have rare PTVs (protein-truncating variants) among a selection covering ten genes compared to those who do not have schizophrenia. PTVs are changes in the DNA code that make a gene produce protein without vital components. This, in turn, disrupts its function.
However, like several other genetic studies, that study was based on a European population, despite schizophrenia being globally prevalent.
The latest study investigated two new novel genes associated with schizophrenia risk. These are SRRM2 and AKAP11. Findings were published in the Nature Genetics journal.
These two genes were pinpointed by comparing the gene sequences of those with schizophrenia with healthy individuals across various groups, particularly those with African roots.
The study also identified a third gene, PCLO, previously associated with schizophrenia. However, it is now known that it increases the risk of autism. This adds to what is currently understood about the genetic overlap across some neurological illnesses.
The researchers performed a meta-analysis that covered 107,877 controls and 35,828 cases that were taken from datasets that had been published before.
Because performing genome sequencing on the full coverage is quite costly, the researchers conducted targeted gene sequencing to choose genes in the data carefully. The individuals whose genes were part of the study were not related to each other. Moreover, 40% also had non-European backgrounds.
Dongjing Liu, the study's lead author and a geneticist and data analyst from Mount Sinai's Icahn School of Medicine, said that by giving attention to gene subsets, they found rare harmful variations that could potentially enable the development of new schizophrenia medicines.
Uniformity of Genetic Risk Across Ethnicities
Aside from this, by studying individuals from various ethnicities, they discovered that the rare variants in evolutionary constrained genes conferred a similar magnitude of schizophrenia risk among varied populations. Moreover, schizophrenia genetic factors previously seen mostly in white individuals now have an extended scope to cover non-white populations.
The scientists plan to further look into the novel genes' clinical implications on particular behaviors or symptoms of schizophrenia. They also aim to identify potential medicines that may target the genes.
The researchers also conclude that one of the study's major contributions to genetics demonstrates the uniformity of genetic risk across ethnicities. They mention that achieving variety in genetic research should be prioritized to prevent health disparities from worsening.
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