Pathophysiological analysis of familial glucocorticoid resistance
| Project/Area Number |
60480271
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| Research Category |
Grant-in-Aid for General Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
内分泌・代謝学
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| Research Institution | Osaka University |
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Principal Investigator |
MORIWAKI Kaname (1986) Osaka University Medical School, Associate Professor, 医学部, 助教授 (90028548)
伊藤 芳晴 (1985) 大阪大学, 医学部, 助手
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| Co-Investigator(Kenkyū-buntansha) |
KANAYAMA Yoshio Osaka University Medical School, Assistant, 医学部, 助手 (30158852)
MASHITA Kazuhiko Osaka University, College of Bio-Medical Technology Associate Professor, 医療技術短期大学部, 助教授 (90135682)
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| Project Period (FY) |
1985 – 1986
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| Project Status |
Completed (Fiscal Year 1986)
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| Budget Amount *help |
¥5,200,000 (Direct Cost: ¥5,200,000)
Fiscal Year 1986: ¥2,200,000 (Direct Cost: ¥2,200,000)
Fiscal Year 1985: ¥3,000,000 (Direct Cost: ¥3,000,000)
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| Keywords | Glucocorticoid receptors / Familial Cortisol Resistance / Cortisol / Cushing's syndrome |
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| Research Abstract |
We found 2 patients in the same family, a mother and the son, with persistent hypercortisolemia without any signs and symptoms of Cushing's syndrome. In order to clarify the causes for this abnormality, we performed the following studies in these two patients.
1. A detailed clinical endocrine studies revealed that the patients showed persistant hypersecretion of cortisol and that their pituitary-adrenal axis were resistant to suppression by dexamethasone.
2. Glucocorticoid receptors in the patients' peripheral mononuclear cells had decreased numbers but normal apparant dissociation constant.
3. The patient's fibroblasts cultured and maintained under the same conditions as normal cells had also decreased glucocorticoid receptors.
4. The cultured fibroblasts were resistant to suppression of their growth by dexamethasone.
These finding led us to conclude that the family belonged to a new type of familial cortisol resistance and this abnormality is genetically determined.
Further studies concerning the abnormality in the patient's gene sequences of glucocorticoid receptors are indicated.
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Report
(1 results)
Research Products
(13 results)
