| Project/Area Number |
10670708
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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 | Toyama Medical & Pharmaceutical University |
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Principal Investigator |
ICHIDA Fukiko Toyama Medical & Pharmaceutical University Hospital, Assistant Professor, 附属病院, 講師 (30223100)
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| Project Period (FY) |
1998 – 1999
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| Project Status |
Completed (Fiscal Year 1999)
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| Budget Amount *help |
¥3,100,000 (Direct Cost: ¥3,100,000)
Fiscal Year 1999: ¥300,000 (Direct Cost: ¥300,000)
Fiscal Year 1998: ¥2,800,000 (Direct Cost: ¥2,800,000)
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| Keywords | noncompaction / cardiomyopathy / genetic analysis / Barth syndrome / G4.5 / G4.5 |
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| Research Abstract |
Isolated noncompaction of the ventricular myocardium (INVM) is a new clinical entity of cardiomyopathy, thought to be due to an arrest of myocardial morphogenesis in the early period of embryogenesis. The long-term prognosis, hemodynamic properties and genetic nature of INVM remain largely unknown. Recent studies on genetic linkage analysis has revealed that mutations in the gene G4.5 on the Xq28 chromosomal region are responsible for INVM and that this disorder is allelic with Barth syndrome. We identified and analyzed a large series of INVM patients via a nationwide survey including the familial clusters in 40 % of the patients. Importantly, female cases of INVM were observed in our series, suggesting the possible non-X-linked inheritance in some instances. We performed candidate gene screening, including G4.5, using SSCP (single strand conformation polymorphism) and DNA sequencing in 27 patients with INVM. DNA was extracted from whole blood and lymphoblastoid cell lines. No mutation for G4.5 were found by either SSCP analysis or direct sequencing except for polymorphism in one patient. Our finding suggests heterogeneity in the inheritance pattern of this disorder, including the possible non-X-linked inheritance in some instances, and another candidate gene besides G4.5 in INVM.
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