1998 Fiscal Year Final Research Report Summary
Genetic study of Hirschsprung's disease
| Project/Area Number |
09671829
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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 |
小児外科
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| Research Institution | Osaka University |
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Principal Investigator |
KUSAFUKA Takeshi Osaka University Medical School, Assistant Professor, 医学部, 助手 (70263267)
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| Project Period (FY) |
1997 – 1998
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| Keywords | Hirschsprung / RET / EDNRB / ET-3 / NOS |
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| Research Abstract |
(1) Possible existence of mutations of the RET, EDNRB, ET-3, and SOX10 genes were analyzed in sporadic patients with Hirschsprung's disease.
(2) Expression of the RET and EDNRB genes were quantified and compared in both ganglionic and aganglionic bowel segments obtained Hirschsprung's disease patients.
(3) Disease causative mutations of the RET or EDNRB genes were confirmed approximately in 10% of the patients in the current study, and considered to be associated with the etiology of Hirschsprung's disease. On the other hand, no mutations were detected in the ET-3 and SOX10 genes, and it is unlikely that these gene mutations have a role in the development of the disease.
(4) Mutations of the RET gene seemed to be associated with long segment type, while these of the EDNRB seemed to be associated with short segment type.
(5) In several cases in whom no gene mutations were detected, RET gene expression in the aganglionic segment were apparently lower than that in the normal ganglionic segment. Therefore, it is likely that abolish expression of RET during embryogenesis may be associated with the development of Hirsehsprung's disease in these cases.
(6) Decreased expression of NOS gene observed in the aganglionic segments of examined cases seemed to explain the principal pathophysiology of Hirschsprung's disease ; excessive contraction of the aganglionic bowels.
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