05 January 2014

Jumping Genes Linked to Schizophrenia

Some so-called jumping genes that copy and paste themselves throughout the genome may be linked to schizophrenia, new research suggests. A new study suggests these jumping genes may alter how neurons (or nerve cells in the brain) form during development, thereby increasing the risk of schizophrenia. Jumping genes, or retrotransposons, are mobile genetic elements that copy and paste themselves at different places throughout the genome. About half of the human genome is made of these mysterious elements, compared with the 1 percent of genes that actually code for making proteins. Earlier studies had found that a certain type of jumping gene, known as long interspersed nuclear element-1 (LINE-1), was active in human brain cells. Kato and his colleagues wondered whether they might play a role in mental illness. To find out, the team conducted a post-mortem analysis of 120 human brains, 13 from patients who had been diagnosed with schizophrenia.


Researchers at the RIKEN Brain Science Institute in Japan found a higher number of LINE-1 copies in the brains of schizophrenics compared with other groups. They also found that stem cells derived from the brains of people with schizophrenia had a higher concentration of LINE-1 genes than did those from people without the diagnosis. Mice and primates with inflammation meant to mimic schizophrenia, introduced by the researchers, also had more of these movable genetic elements than healthy animals. They also found that in people with schizophrenia, LINE-1 concentrations were increased near genes associated with psychiatric disorders that control how neurons in the brain communicate with one another. The findings suggest these LINE-1 segments may be inserting themselves into genes critical for brain development. When triggered by genetic and or environmental factors, they may alter that brain development, leading to schizophrenia.

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