ゲノムバリアントを起点とした精神疾患の病態解明に向けて：iPS細胞の可能性

抄録

The pathophysiology and pathogenesis of mental disorders remains unknown. One reason for this is the difficulty in directly analyzing the brains of living patients at the molecular and cellular levels. Recently, iPS cell technology has emerged as a new tool to study the pathophysiology of mental disorders, addressing the limitations of existing approaches such as postmortem brain, brain imaging, and animal models.

To date, our research group has identified a number of genomic variants that are implicated in the onset of mental disorders. However, it is still unclear what occurs in the brains of patients with these risk variants. To address this, we use the iPS cells. We have established iPS cells from patients with various risk variants such as 22q11.2 deletion, 3q29 deletion, MeCP2 and TSC2 variant, and analyzed them at the molecular and cellular levels. As a result, we identified the shared phenotypes among neuronal cells with risk variants, which are independent of their diagnosis and psychiatric symptoms.

In this symposium, we introduce our research using iPS cells and discuss their potential and limitations.