| Project/Area Number |
16K11687
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Surgical dentistry
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| Research Institution | Hiroshima University |
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Principal Investigator |
KANDA TAKU 広島大学, 病院(歯), 助教 (00423369)
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| Co-Investigator(Kenkyū-buntansha) |
岡本 哲治 広島大学, 医歯薬保健学研究科(歯), 教授 (00169153)
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| Project Period (FY) |
2016-04-01 – 2019-03-31
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| Project Status |
Completed (Fiscal Year 2018)
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| Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2018: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2017: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2016: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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| Keywords | COWDEN / PTEN / がん抑制遺伝子 / IPS / 無血清 / Cowden症候群 / Pten / cowden症候群 / Pten遺伝子 / 無血清培地 / 常染色体優性遺伝 / iPS細胞 / がん抑制遺伝子Pten / 癌抑制遺伝子PTEN / フィーダーフリー無血清培養 |
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| Outline of Final Research Achievements |
The peripheral blood of the cancer supressor gene Pten abnormal Cowden syndrome patient was searched for all exons of 4813 genes by MiSeq next generation sequencer. Deletion of T and c. 1027 G > A mutation were recognized in the allele of the PTEN gene region. These results suggest that the PTEN protein is truncated because the 341 amino acid F is replaced by L and the 342 amino acid K is replaced by R, followed by the formation of stop codon. After primary culture of PBMCs from the same patient, who also had mutations in cancer-related genes and had a history of breast cancer or thyroid cancer in this patient, in RD6F serum-free medium, disease-specific iPSCs were induced in a non-feeder serum-free culture system.
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| Academic Significance and Societal Importance of the Research Achievements |
Cowden症候群は全身諸臓器の多発性過誤腫と高率に悪性腫瘍を合併する疾患で,がん抑制遺伝子phosphatase and tensin homolog deleted on chromosome 10 (PTEN)の変異が関与するまれな常染色体優性遺伝である。Cowden症候群特異的iPSCは、本疾患の病態解明及び治療法の開発研究おいて有用な手法と考えられる。
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