| Budget Amount *help |
¥26,000,000 (Direct Cost: ¥20,000,000、Indirect Cost: ¥6,000,000)
Fiscal Year 2022: ¥6,500,000 (Direct Cost: ¥5,000,000、Indirect Cost: ¥1,500,000)
Fiscal Year 2021: ¥8,320,000 (Direct Cost: ¥6,400,000、Indirect Cost: ¥1,920,000)
Fiscal Year 2020: ¥11,180,000 (Direct Cost: ¥8,600,000、Indirect Cost: ¥2,580,000)
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| Outline of Final Research Achievements |
In this study, we aimed to elucidate cardiac pathology using patient-derived iPS cells and model mice with genomic variants such as 22q11.2 deletion and 3q29 deletion, which are risk factors for both psychiatric and cardiac disorders.
Bulk RNA-seq analysis of cardiomyocytes derived from iPS cells from healthy controls and patients with 22q11.2 deletion (22qdel-PT) suggested Golgi and endoplasmic reticulum abnormalities in cardiomyocytes derived from 22qdel-PT. It has been reported that Golgi and endoplasmic reticulum abnormalities in the heart contribute to the development and progression of cardiac diseases such as heart failure and arrhythmia, and may be one of the causes of vulnerability in heart of 22qdel-PT. We have also shown that the endoplasmic reticulum stress response is abnormal in dopaminergic neurons derived from 22qdel-PT. These results suggest that endoplasmic reticulum abnormalities may be common in the pathological background of both heart and brain.
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