| Budget Amount *help |
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2019: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2018: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2017: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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| Outline of Final Research Achievements |
Hereditary folate malabsorption (HFM) is an autosomal recessive disease caused by mutations in SLC46A1 encoding the proton-coupled folate transporter (PCFT), a type of primary immunodeficiency. There are few cases in the past in which treatment has been successful without sequelae. We advanced functional analysis of the newly reported gene mutation and aimed to establish effective treatment standards for HFM.
During the study period, it was confirmed that folate malabsorption in the patient was due to a combination of genetic mutations from parents. And, EBV-LCL (human immortalized B cell line) derived from the patient was established, and the effect on the hematocyocyte system was examined. In addition, PCFT expression analysis of HeLa cells (human cervical cancer-derived cell lines) and folate transportant ability of mutant PCFT were analyzed.
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