Research press release


Nature Genetics

Family-based study identifies new gene for psychosis


今回、Kari Stefanssonたちの研究グループは、精神病の症状を持つ人が10人含まれるアイスランドの大家系を対象にゲノム塩基配列を解析して、これら10人全員のRBM12遺伝子に短縮型変異があることを明らかにした。また、精神病の症状を持つ人を含むフィンランドの家系でも、RBM12遺伝子の短縮型変異が同定された。このように当初の結果が再現されたことは、RBM12遺伝子が神経機能の維持に必要なことを示す有力な証拠となっている。


The discovery of a new gene linked to psychosis, reported in a paper published online this week in Nature Genetics, provides new insights into the biology of mental health.

Kari Stefansson and colleagues analyzed genome sequences from a large family in Iceland in which ten members experienced symptoms of psychosis. The authors identified a disrupting mutation in the RBM12 gene in all affected individuals. They also found a different damaging mutation in the same gene in a second affected family in Finland. The replication of results provides strong evidence that this gene is important for maintaining neurological function.

Although all affected individuals had a mutated form of the gene, there were also individuals who carried a copy of the mutated gene but were not diagnosed with psychosis. However, these ‘carrier’ individuals had symptoms of non-psychotic psychiatric disorders and impaired cognitive function when compared to individuals without the mutation. This strengthens the evidence that the RBM12 gene is important for normal brain function. The authors conclude that further insight into the gene’s function could contribute to greater understanding and potential treatment of neuropsychological disease.

doi: 10.1038/ng.3894


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