1996 Fiscal Year Final Research Report Summary
GENE MAPPING OF MOYAMOYA DISEASE
| Project/Area Number |
07671503
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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 |
Cerebral neurosurgery
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| Research Institution | TOKYO MEDICAL & DENTAL UNIVERSITY,SCHOOL OF MEDICINE |
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Principal Investigator |
MATSUSHIMA Yoshiharu TOKYO MEDICAL & DENTAL UNIVERSITY,SCHOOL OF MEDICINE,ASSISTANT PROFESSOR, 医学部, 助教授 (20134679)
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| Co-Investigator(Kenkyū-buntansha) |
YAMAMOTO Kiyotaka TOKYO METROPOLITAN INSTITUTE OF GERONTOLOGY,DEPARTMENT OF CELL BIOLOGY,CHIEF RES, 細胞生物部門, 主任研究員 (90073022)
AOYAGI Masaru TOKYO MEDICAL & DENTAL UNIVERSITY,SCHOOL OF MEDICINE,LECTURER, 医学部, 講師 (40134704)
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| Project Period (FY) |
1995 – 1996
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| Keywords | moyamoya disease / familial occurence / gene analysis / muscle, smooth / arterial wall / clastin gene / human leukocyte antigen |
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| Research Abstract |
(1) We investigated the familial occurence of moyamoya disease using magnetic resonance angiography (MRA). We collected three familial moyamoya pedigrees. We collected blood samples from moyamoya patients and normal subjects in these families, and are now performing linkage analysis using the genomic DNA.The final results has not been obtained. However, much larger pedigrees may be necessary for the sucessful gene mapping of this disease. (2) We performed typing for human leukocyte antigen (HLA) in 32 unrelated moyamoya patients and compred with 178 sontrol subjects. We found a significant association of HLA B51 with moyamoya disease. The finding suggests that there may be a genetic predisposition for moyamoya disease and that host factors may play a role in the development of intimal thickening in early childhood. (3) WE histologically examined superficial temporal arteries (STA) of moyamoya patients by electron microscopy and immunohistochemistry. Intimal thickenings appeared significantly at an early age in moyamoya patients compared with control subjects. Intimal thickening in STA of moyamoya patients contained strongly stained elastic fibers. Tropoelastin gene transcripts was significantly greater in intimal smooth muscle cells (SMCs) of moyamoya patients than in control subjects. The cultured SMCs from moyamoya STA showed higher elastin synthesis and tropoelastin gene transcripts than those from control arteries. This may indicate alterlations in elastic gene regulations in moyamoya SMCs.
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