Mosaic mutations in neurodevelopmental disorder genes and mitochondrial tRNA genes have been found to be involved in the pathophysiology of bipolar disorder (IMAGE)
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Japanese researchers showed that genes associated with developmental disorders and autism spectrum disorders are significantly enriched with deleterious mosaic mutations in patients with bipolar disorder (BD). Similarly, the mitochondrial tRNA region of these patients also showed significant enrichment of deleterious mosaic mutations. These findings help better understand the genetics and pathogenesis of BD.
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Masaki Nishioka from Juntendo University
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