| Budget Amount *help |
¥23,530,000 (Direct Cost: ¥18,100,000、Indirect Cost: ¥5,430,000)
Fiscal Year 2018: ¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2017: ¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2016: ¥7,150,000 (Direct Cost: ¥5,500,000、Indirect Cost: ¥1,650,000)
Fiscal Year 2015: ¥7,020,000 (Direct Cost: ¥5,400,000、Indirect Cost: ¥1,620,000)
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| Outline of Final Research Achievements |
Although acylceramide is an essential lipid for skin barrier formation, the pathway of acylceramide synthesis has not been elucidated. Impairment of acylceramide production causes a skin disorder ichthyosis, and several ichthyosis causative genes have been identified. Among them, there exists many genes with unknown function. and the molecular mechanism of the pathogenesis caused by gene mutation remain poorly understood. In this research project, we elucidated the acylceramide synthetic pathway and demonstrated that CYP4F22, ACSVL4 and PNPLA1, enzymes with unknown functions, are involved in the acylceramide synthesis. Furthermore, we revealed that NIPAL4 gene mutations result in aberrant gene expressions including acylceramide synthesis-related enzymes due to decreased Mg2+ uptake, leading to pathogenesis of ichthyosis.
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