| Project/Area Number |
26860688
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Metabolomics
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| Research Institution | The University of Tokyo |
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Principal Investigator |
Takase Satoru 東京大学, 医学部附属病院, 助教 (80508094)
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| Project Period (FY) |
2014-04-01 – 2016-03-31
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| Project Status |
Completed (Fiscal Year 2015)
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| Budget Amount *help |
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2015: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2014: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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| Keywords | hypertriglyceridemia / APOC2 / whole genome sequencing / 原発性脂質異常症 / whole genome sequence |
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| Outline of Final Research Achievements |
Previously we reported a case of hypoapoC-II with severe hypertriglyceridemia (HTG) phenotype without any mutation in the coding region of the APOC2 gene (Case 1). Whole genome sequencing revealed a rearrangement around the APOC2 gene. Southern blot hybridization analysis, array CGH analysis, and breakpoint analysis supported the result. Other 2 cases of severe HTG with decreased levels of plasma apoC-II proteins were also analyzed (Case 2 and Case 3). Surprisingly, Case 2 showed the same result as Case 1 by array CGH analysis and breakpoint analysis, indicating they have the same rearrangements. We further genotyped tag SNPs of these 2 patients by microarray and detected a founder haplotype. We propose a new disease entity “hypoapoC-II” that is derived from a structural abnormality around APOC2 gene and results in massive HTG.
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