| Project/Area Number |
14370311
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Hematology
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| Research Institution | Kawasaki College of Allied Health Professions |
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Principal Investigator |
YAWATA Yoshihito Kawasaki College of Allied Health Professions, Department of Care Work, Professor, 介護福祉科, 教授 (70069011)
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| Co-Investigator(Kenkyū-buntansha) |
FUJIWARA Yoshiro Suzuka Medical Science University, Department of Public Health, Professor, 保健衛生学部, 教授 (70342293)
SADAHIRA Yoshito Kawasaki Medical School, Department of Medicine (Pathology), Professor, 医学部(病理学), 教授 (30178694)
WADA Hideho Kawasaki Medical School, Department of Medicine (Hematology), Associate Professor, 医学部(血液内科学), 助教授 (70191830)
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| Project Period (FY) |
2002 – 2004
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| Project Status |
Completed (Fiscal Year 2004)
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| Budget Amount *help |
¥10,400,000 (Direct Cost: ¥10,400,000)
Fiscal Year 2004: ¥2,000,000 (Direct Cost: ¥2,000,000)
Fiscal Year 2003: ¥3,400,000 (Direct Cost: ¥3,400,000)
Fiscal Year 2002: ¥5,000,000 (Direct Cost: ¥5,000,000)
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| Keywords | Red cell membrane disorders / Hemolytic anemia / Protein 4.2 / Gene methylation / Molecular electron microscopy / Red cell membrane proteins / Control of gene expression / アンキリン |
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| Research Abstract |
(I) Red cell membrane disorders in the Japanese population. We investigated genetic and phenotypic characteristics in 206 patients of 107 independent families for the recent 3 years (2002-2005). The total numbers of these patients studied at my laboratory became 1265 cases of 742 traits since 1974 when I started my research at this field.
(II) As the total results, (1) hereditary spherocytosis was 669 cases of 365 families (55.2%), (2) hereditary elliptocytosis (HE) 146 cases of 74 families (12.0%), (3) protein 4.2 deficiency 41 cases of 25 families, (4) hereditary stomatocytosis (HSt) 107 cases of 66 families, (5) red cell membrane lipid abnormalities 41 cases of 27 families, (6) cases of unknown etiology 247 cases of 186 families, and (7) others, which are under extensive investigation, respectively.
(III) State of DNA methylation was studied regarding the 4 genes of red cell membrane proteins, i.e., band 3 (EPB3), protein 4.2 (ELB42), β-spectrin (SPTB), and ankyrin (ANK 1). The 5'-CG-3' sites of SPTB and ANK 1 were totally unmethylated, and those of ELB42 and EPB3 were heavily methylated. Epigenetic control of gene expression by DNA methylation was investigated in normal subjects and patients with red cell membrane disorders, and during erythroid terminal differentiation.
(IV) The abnormalities of ultrastructure of red cell membranes as phenotypes in disease states were investigated by molecular electron microscopy.
(V) A part of these results was presented at the General Assembly Meetings of the Japan Medical Association as an invited lecture (April, 2003).
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