2001 Fiscal Year Final Research Report Summary
The molecular analyses of pituitary transcription factors in patients with combined pituitary hormone deficiency
| Project/Area Number |
12670759
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Nagasaki University School of Medicine |
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Principal Investigator |
KINOSHITA Eiichi Nagasaki University School of Medicine, Pediatrics, Associate Professor, 医学部, 助教授 (10295058)
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| Project Period (FY) |
2000 – 2001
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| Keywords | Combined Pituitary Hormone Deficiency / Transcription factor / PIT-1 / PROP1 / HESX1 / LHX3 / Septo-Optic desplasia |
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| Research Abstract |
Combined pituitary hormone deficiency (CPHD) results from an impaired pituitary function due to mutations in transcription factors involved in the development and organogenesis of the pituitary gland. To ascertain the molecular basis of CPHD, gene analyses of pituitary transcription factor such as PIT1, PROP1, HESX1 and LHX4 were performed on a cohort of 40 patients with CPHD and 9 with septo-optic dysplasia (SOD) in Japan and 11 SOD from the Russian Federation. An R281W mutation of the PIT1 gene was identified in only one patient with growth hormone, prolactin and thyroid-stimulating hormone deficiency. The other patients did not reveal any mutation in the coding region of the PHI, PROP1 and LHX3 gene. In our previous study of Russian patients with CPHD, two common mutations, 296delGA and 149delGA, in the PROP1 gene were found in 8 of 14 (57 %). A 296delGA mutation in PROP1 is a major cause of CPHD in European populations, whereas mutations in PROP1 seem to be much less common in Japanese CPHD patients. In this cohort study of 9 Japanese and 11 Russian patients with SOD, nobody had any mutation in their HESX1 gene. This observation indicates that mutations at HESX1 are unlikely to be a major cause of hypopituitarism associated with SOD. These results suggest that the etiology of most Japanese patients with CPHD would not be due to the pituitary transcription factors known to date.
Therefore, it is necessary to identify further unknown pituitary differentiation factors and/or specific co factors, which interacts with pituitary transcription factor.
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Research Products
(12 results)
