| Budget Amount *help |
¥15,990,000 (Direct Cost: ¥12,300,000、Indirect Cost: ¥3,690,000)
Fiscal Year 2019: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Fiscal Year 2018: ¥6,240,000 (Direct Cost: ¥4,800,000、Indirect Cost: ¥1,440,000)
Fiscal Year 2017: ¥7,540,000 (Direct Cost: ¥5,800,000、Indirect Cost: ¥1,740,000)
|
|---|
| Outline of Final Research Achievements |
Selective autophagy for impaired mitochondria is known as mitophagy, by which mitochondrial quality is preserved. Chorein, a protein responsible for chorea-acanthocytosis, was suggested to be involved in mitophagy-mediated mitochondrial quality control mechanisms. It was suggested that the neurodegeneration in chorea-acanthocytosis may be due in part to a disruption of mitophagy.
We found that patients with chorea-acanthocytosis exhibited a variety of psychiatric symptoms, including cognitive decline. Approximately 55% of the mutations in Japanese patients with ChAc carried two major mutations. These mutations were localized in Tokyo and west side of Japan and the partial founder effects were suggested.
|
