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Molecular Analysis of Glucocorticoid Receptors in Patients with Familial Cortisol Resistence

Research Project

Project/Area Number 03671149
Research Category

Grant-in-Aid for General Scientific Research (C)

Allocation TypeSingle-year Grants
Research Field 内分泌・代謝学
Research InstitutionOsaka University

Principal Investigator

NAMBA Mitsuyoshi (1992)  OSAKA UNIV. MEDICINE ASSISTENT TEACHER, 医学部, 助手 (00183533)

飯田 さよみ (1991)  大阪大学, 医学部, 助手 (40159554)

Co-Investigator(Kenkyū-buntansha) FUJII Hiroshi  OSAKA UNIV. MEDICINE SENIOR REGISTRAR, 医員
難波 光義  大阪大学, 医学部, 助手 (00183533)
Project Period (FY) 1991 – 1992
Project Status Completed (Fiscal Year 1992)
Budget Amount *help
¥2,100,000 (Direct Cost: ¥2,100,000)
Fiscal Year 1992: ¥700,000 (Direct Cost: ¥700,000)
Fiscal Year 1991: ¥1,400,000 (Direct Cost: ¥1,400,000)
KeywordsCortisol resistence / Glucocorticoid receptor / Cortisol / Cushing syndrome / Hypercortisolemia / Fibroblast / Lymphocyte / Epstein-Barr virus / コルチゾ-ル / 抵抗症 / 受容体遺伝子 / シ-クエンス / 家族性 / 形質転換リンパ球 / 線維芽細胞
Research Abstract

We have previously reported two patients in the same family with primary cortisol resistance accompanied by a decrease in numbers of glucocorticoid receptors (GR) in peripheral mononuclear cells. These patients, patient I (35-year-old male) and patient II (mother), had sustained hypercortisolemia, but they presented no manifestation of Cushing's syndrome. Both patients exhibited mild hypertension without hypokalemia. They were partially resistant to dexamethasone adrenal suppression. Reduced numbers but normal affinity of GR were also found in Epstein-Barr virus (EBV) - transformed lymphocytes. Total RNA was isolated from the EBV-transformed lymphocytes. Single-stranded cDNA was synthesized from total RNA by a reverse transcription reaction. GR cDNA from both patients was ampli. fied by polymerase chain reaction. Direct sequencing of PCR products revealed a three base-pair (AAA) deletion at codon 2443. Both patients were heterozygous for the deletion. The deletion results in the loss of a lysine residue in the steroid-binding domain of the GR.

Report

(3 results)
  • 1992 Annual Research Report   Final Research Report Summary
  • 1991 Annual Research Report
  • Research Products

    (18 results)

All Other

All Publications (18 results)

  • [Publications] SAYOMI IIDA: "Qusntitative comparison of aromatase induction by dexamethadone in fibroblasts from a patient with familial cortisol resistence and a patient with cortisol hyperreactive syndrome." J.Clin.Endocriol.Metab.73(1). 192-196 (1991)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1992 Final Research Report Summary
  • [Publications] MAMIKO TSUGAWA: "An engyme-linked immunosorbent assay(ELISA)for guanosine 3′,5′-cyclic monophosphate(CGMP)in human plasma and urine using monoclonal antibody." J.Immumoassay. 12(2). 263-276 (1991)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1992 Final Research Report Summary
  • [Publications] 飯田 さよみ: "Cortisol refractorinessとcortisol hypersensitivity syndrome." 日本内科学会雑誌. 81(4). 475-479 (1992)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1992 Final Research Report Summary
  • [Publications] 飯田 さよみ: "コルチゾール過敏症候群" 内科. 69(6). 1459-1460 (1992)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1992 Final Research Report Summary
  • [Publications] 飯田 さよみ: "ストロイドホルモン反応異常症" ホルモンと臨床. 40(11). 1137-1141 (1992)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1992 Final Research Report Summary
  • [Publications] 飯田 さよみ: "コルチゾール反応異常症" 現代医療. 25(1). 343-346 (1993)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1992 Final Research Report Summary
  • [Publications] SAYOMI IIDA, KANAME MORIWAKI, HIROSHI FUJII MASAHIRO GOMI, MAMIKO TSUGAWA, YOSHIHISA NAKAMURA, TERUO KITANI and SEIICHIRO TARUI: "Quantitative comparison of aromatase induction by dexamethasone in fibroblasts from a patient with familial cortisol resistence and a patient with cortisol hyperreactive syndrome" J. Clin. Endocrinol. Metab. 73. 192-196 (1991)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1992 Final Research Report Summary
  • [Publications] MAMIKO TSUGAWA, KANAME MORIWAKI, SAYOMI IIDA, HIROSHI FUJII, MASAHIRO GOMI and SEIICHIRO TARUI: "An enzgme-linked immunosorbent assay (ELISA) for guanosine 3', 5' - cyclic monophosphate (cGMP) in human plasma and urine using monoclonal antibody" J. Immunoassay. 12. 263-276 (1991)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1992 Final Research Report Summary
  • [Publications] SAYOMI IIDA: "Quantitative comparison of aromatase induction by dexamethasone in fibroblasts from a patien with familial cortisol resistence and a patient with cortisol hyperreactive syndrome." J.Clin.Endocrinol.Metab.73(1). 192-196 (1991)

    • Related Report
      1992 Annual Research Report
  • [Publications] MAMIKO TSUGAWA: "An enzyme-linked immanosorbent assay(ELISA)for guanosine 3',5'-cyclic monophosphate(CGMP)in human plasma and urine using monoclonal antibody." J.Immunoassay. 12(2). 263-276 (1991)

    • Related Report
      1992 Annual Research Report
  • [Publications] 飯田 さよみ: "Cortisol refractoriness & cortisol hypersensitivity syndrome" 日本内科学会雑誌. 81(4). 475-479 (1992)

    • Related Report
      1992 Annual Research Report
  • [Publications] 飯田 さよみ: "コルチゾール過敏症候群" 内科. 69(6). 1459-1460 (1992)

    • Related Report
      1992 Annual Research Report
  • [Publications] 飯田 さよみ: "ステロイドホルモン反応異常症" ホルモンと臨床. 40(11). 1137-1141 (1992)

    • Related Report
      1992 Annual Research Report
  • [Publications] 飯田 さよみ: "コルチゾール反応異常症" 現代医療. 25(1). 343-346 (1993)

    • Related Report
      1992 Annual Research Report
  • [Publications] S.Iida,K.Moriwaki,H.Fujii,M.Gomi,M.Tsugawa,Y.Nakamura,T.Kitani and s.Tarui: "Quantitative comparison of aromatase induction by dexamethasone in fibroblasts fibroblasts from a patient with familial cortisol resistance and a patient with cortisol hyperreactive syndrome." J.Clin.Endocrinol.Metab.73(1). 192-195 (1991)

    • Related Report
      1991 Annual Research Report
  • [Publications] 五味 正裕,藤井 宏,飯田 さよみ,森脇 要: "ステロイドホルモン不応症" Pharwa Medica. 9(5). 37-41 (1991)

    • Related Report
      1991 Annual Research Report
  • [Publications] 飯田 さよみ,森脇 要: "コルチゾ-ル過敏症候群と不応症" ホルモンと臨床. 39(11). 1159-1163 (1991)

    • Related Report
      1991 Annual Research Report
  • [Publications] 飯田 さよみ,森脇 要: "コルチゾ-ル過敏症候群" 医学のあゆみ. 156(12). 787 (1991)

    • Related Report
      1991 Annual Research Report

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Published: 1991-04-01   Modified: 2016-04-21  

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