While translating these genetic discoveries into treatments remains a long-term goal, the results offer new hope for guiding drug development and targeted therapies in the future
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UK researchers have discovered eight new genes associated with schizophrenia, an advance that will improve the understanding and future treatment development for the severe mental disorder.
Schizophrenia significantly affects how a person thinks, feels, and behaves. It can cause a range of symptoms, including hallucinations, delusions, disorganised thinking, and changes in behaviour.
In the breakthrough study, scientists at the Centre for Neuropsychiatric Genetics and Genomics (CNGG) at Cardiff University focused on detecting rare, high-impact mutations in protein-coding genes that are significantly more common in people with schizophrenia.
The study, published in the journal Nature Communications, identified two genes -- STAG1 and ZNF136 -- that were linked to schizophrenia with strong genetic evidence.
An additional six genes -- SLC6A1, KLC1, PCLO, ZMYND11, BSCL2, and CGREF -- were also associated with more moderate evidence.
The research found that SLC6A1 and KLC1 are the first schizophrenia risk genes to be linked solely through missense variants, a specific type of mutation that alters the amino-acid sequence of proteins.
"These findings are informative because they suggest that schizophrenia might be linked to changes in how DNA is organised within cells, and also disruptions in how brain cells communicate using a chemical called GABA,” said Sophie Chick, doctoral student at Cardiff University.
"These results further our understanding of the complex neurobiology of schizophrenia and put us closer to the goal of advancing drug discovery and improving treatment," Chick added.
The international study analysed genetic data from 28,898 individuals with schizophrenia, 103,041 without the condition, and 3,444 families affected by the disorder.
The research also strengthens the case for shared genetic roots between schizophrenia and other neurodevelopmental conditions.
Four of the newly identified genes -- STAG1, SLC6A1, ZMYND11, and CGREF1 -- have previously been associated with autism, epilepsy, and developmental delay.
"Rare genetic variants have long been known to have a role in schizophrenia, but identifying specific genes linked to these mutations has been a major challenge,” said lead author Dr. Elliott Rees, from Cardiff University School of Medicine.
While translating these genetic discoveries into treatments remains a long-term goal, the results offer new hope for guiding drug development and targeted therapies in the future.
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