| Project/Area Number |
16590700
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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 |
Circulatory organs internal medicine
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| Research Institution | Kagoshima University |
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Principal Investigator |
ANAN Ryuichiro Kagoshima University, University Hospital, Faculty of Medicine and Dentistry, Assistant Professor, 医学部・歯学部附属病院, 講師 (60291548)
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| Co-Investigator(Kenkyū-buntansha) |
TEI Chuwa Kagoshima University, Graduate School of Medical and Dental Sciences, Professor, 大学院・医歯学総合研究科, 教授 (10163891)
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| Project Period (FY) |
2004 – 2005
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| Project Status |
Completed (Fiscal Year 2005)
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| Budget Amount *help |
¥2,500,000 (Direct Cost: ¥2,500,000)
Fiscal Year 2005: ¥1,200,000 (Direct Cost: ¥1,200,000)
Fiscal Year 2004: ¥1,300,000 (Direct Cost: ¥1,300,000)
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| Keywords | Dilated Cardiomyopathy / Molecular Genetics / Myocardial Disease / Nuclear Protein |
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| Research Abstract |
Background. Recent molecular genetic studies have identified molecular etiology of dilated cardiomyopathy (DCM). Mutations in the genes for cell membrane, sarcomere, and nuclear membrane have been reported to be etiologies of DCM. We have found 4 mutations in the lamin A/C gene in 4 families with DCM. To test the hypothesis that other protein in the nuclear membrane can be a molecular etiology of dilated cardiomyopathy, we have screened the Unc84b gene for mutations in patients with DCM.
Methods. We studied Japanese patients with DCM and their family members. History taking, clinical evaluation, 12-lead electrocardiography and echocardiography were performed in all the patients and available first degree relatives. After written informed consent was obtained, DNA was extracted from peripheral blood. Sequence analyses were performed for Unc84b gene. Analyses were done using PCR based direct sequencing methods.
Results. Ninety-four patients with DCM were enrolled for the study. A novel missense mutation in the Unc84b gene had been identified in a patient with DCM. The mutation was Asp258Gly in exon 8 in the Unc84b gene. The mutation was also found in other patient with DCM in the family, and the mutation was not found in 100 normal individuals.
Conclusions. A novel missense mutation (Asp258Gly) in the Unc84b gene has been identified in a Japanese family with DCM. Mutations in Unc84b gene can be molecular etiology of Japanese patients with DCM, and Unc84b gene is a novel disease gene for DCM.
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