2007 Fiscal Year Final Research Report Summary
Effect of mutation of long QT syndrome-causative gene mutations on lymphoid organs
| Project/Area Number |
18590645
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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 |
Legal medicine
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| Research Institution | Osaka Medical College |
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Principal Investigator |
NISHIO Hajime Osaka Medical College, Faculty of Medicine, Associate Professor (90253260)
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| Project Period (FY) |
2006 – 2007
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| Keywords | lone QT syndrome / cardiac sudden death / lymphoid organ / model animal |
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| Research Abstract |
Congenital long QT syndrome is a arrhythmogenic disorder, and sometimes become a cause of cardiac sudden death. It is known that long QT syndrome is involved in some ease of sudden death cases of autopsy series. In this study, we investigated possible effect of long QT syndrome-causative gene mutations on morphological changes at autopsy findings. Kcnq1 gene encodes cardiac potassium channel, is most often involved in the congenital long QT syndrome. We found that a mouse strain which possesses spontaneously mutated Kcnq1 gene showed prolongation of QT intervals. In addition, this Kcnq1 mutant strain showed hyperplasia of gastric mucosa and modulated function of adrenal cortex. The apparent morphological changes of lymphoid organs such as thymus, spleen, and lymph node were not found in the mutated mice. These findings indicate that Kcnq1 mutation changes different organ systems like adrenocortical and gastric system except cardiovascular system. We also tried to establish a Kcnq1 mutant strain, which in introduced a mutation of human-type mutation. This mutation is found in a sudden death case at autopsy. The victim suddenly died while running in the morning. Since the founded mutation is a novel and unreported mutation, the established mouse strain may become a useful tool for examining the possible involvement of the mutation in the pathogenesis of arrhythmias. Since the strain has been established recently, we will investigate various morphological phenotypes of organs and compare among homo-, hetero-, and wild-type mice. The study may provide a useful information for diagnose for sudden unexplained death case at autopsy.
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