Mlecular analysis of epigenetic disorders including pseudohypoparathyroidism
Project/Area Number |
26461392
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Endocrinology
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Research Institution | Department of Clinical Research, National Hospital Organization Kyoto Medical Center |
Principal Investigator |
Usui Takeshi 独立行政法人国立病院機構(京都医療センター臨床研究センター), 内分泌代謝高血圧研究部, 客員室長 (20271512)
|
Project Period (FY) |
2014-04-01 – 2017-03-31
|
Project Status |
Completed (Fiscal Year 2016)
|
Budget Amount *help |
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2016: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2015: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2014: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
|
Keywords | 偽性副甲状腺機能低下症 / メチル化 / GNAS |
Outline of Final Research Achievements |
To clarify the usefulness of methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA), we evaluated genetic and epigenetic changes of the GNAS locus in Japanese PHP-Ib patients. We studied 13 subjects with PHP-Ib (three families with eight affected members and one unaffected member and four sporadic cases). The methylation status of GNAS differentially methylated regions (DMRs) was evaluated using MS-MLPA. The main outcome measure was the presence of deletion mutations in the GNAS locus and STX16, which were assessed using MLPA. In all familial PHP-Ib cases, a 3kb deletion of STX16 and demethylation of the A/B domain were identified. In contrast, no deletion was detected throughout the entire GNAS locus region in the sporadic cases. Broad methylation abnormalities were observed in the GNAS DMRs.
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Report
(4 results)
Research Products
(12 results)
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[Journal Article] Determinants of Glycated Hemoglobin in Subjects With Impaired Glucose Tolerance: Subanalysis of the Japan Diabetes Prevention Program.2017
Author(s)
Sakane N, Sato J, Tsushita K, Tsujii S, Kotani K, Tominaga M, Kawazu S, Sato Y, Usui T, Kamae I, Yoshida T, Kiyohara Y, Sato S, Tsuzaki K, Nirengi S, Takahashi K, Kuzuya H, Group JR.
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Journal Title
J Clin Med Res.
Volume: 7
Issue: 4
Pages: 360-365
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus.2016
Author(s)
Imashuku S, Muramatsu H, Sugihara T, Okuno Y, Wang X, Yoshida K, Kato A, Tatsumi Y, Hattori A, Kita S, Oe K, Sueyoshi A, Usui T, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Ogawa S, Kojima S, Kanno H
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Journal Title
Int J Hematol
Volume: 印刷中
Issue: 1
Pages: 125-129
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] ELEVATED LEVELS OF PLASMA IMMUNOASSAYABLE ALDOSTERONE IN A MILD FORM OF 17 ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY DIAGNOSED AT THE AGE OF 50.2015
Author(s)
Yohei Ueda,Takeshi Usui,Tomokazu Watanabe,Keiichi Kaneko,Rieko Nakatani,Maiko-Kakita Kobayashi,Kanako Tanase-Nakao,Kazutaka Nanba,Mika Tsuiki,Tetsuya Tagami,Mitsuhide Naruse,Yuko Toyoda,KeikoHomma,Tomonobu Hasegawa,Akira Shimatsu
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Journal Title
AACE Clinical Case Reports
Volume: 未定
Related Report
Peer Reviewed
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[Journal Article] A CASE OF C CELL HYPERPLASIA IN AN ASYMPTOMATIC V804M RET MUTATION CARRIER; CAN THE CALCIUM INFUSION TEST PREDICT C CELL HYPERPLASIA?2015
Author(s)
Maiko-Kakita Kobayashi,Yohei Ueda,Kanako Tanase-Nakao,Takeshi Usui,Yoshiki Watanabe,Tetsuro Yamamoto,Kazutaka Nanba,Tetsuya Tagami,Mitsuhide Naruse,Ryo Asato,Akira Shimatsu
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Journal Title
AACE Clinical Case Reports
Volume: 1(No.2)
Related Report
Peer Reviewed
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