[Miki Bundo] Analysis of somatic mutations in brain cells using a cell nuclei separation technique

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Miki Bundo

Miki Bundo

Faculty of Life Sciences, Kumamoto University
Associate Professor


Recent studies have revealed that the genome of brain cells contains several kinds of somatic mutations, such as chromosomal aneuploidy and insertion of retrotransposons. These brain cell-specific somatic mutations may play an important role in the development of psychiatric diseases. My colleagues and I recently reported that the copy number of the retrotransposon LINE-1 is higher in the neurons of patients with schizophrenia than in the neurons of healthy controls. In this proposed project, I plan to identify the brain cell types showing accumulation of somatic mutations in patients with schizophrenia. For this, I will establish techniques for isolation of single-cell nucleus from different types of human brain cells and for sequencing the genomic DNA from the isolated single nucleus. I will then conduct a case-control study using postmortem brain samples from patients with schizophrenia and controls without schizophrenia to clarify the pathogenesis of schizophrenia.

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