| Project/Area Number |
01480242
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| Research Category |
Grant-in-Aid for General Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Neurology
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| Research Institution | National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP) |
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Principal Investigator |
ARAHATA Kiichi National Center of Neurology and Section Chief, 神経研究所疾病研究第一部, 室長 (30053325)
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| Co-Investigator(Kenkyū-buntansha) |
TSUKAHARA Toshifumi Neuroscience Research Staff, 神経センター・神経研究所疾病研究第一部, 研究員 (60207339)
ISHIURA Shoichi Neuroscience Section Chief, 神経センター・神経研究所疾病研究第一部, 室長 (10158743)
SUGITA Hideo Psychiatry, National Institute Director, 神経センター, 所長 (80009951)
ORIMO Satoshi Neuroscience Research Fellow
ARIKAWA Eri Neuroscience Research Fellow
有川 恵理 国立精神, 神経センター神経研究所, 流動研究員
織茂 智之 国立精神, 神経センター神経研究所, 研究生
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| Project Period (FY) |
1989 – 1991
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| Project Status |
Completed (Fiscal Year 1991)
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| Budget Amount *help |
¥6,700,000 (Direct Cost: ¥6,700,000)
Fiscal Year 1991: ¥600,000 (Direct Cost: ¥600,000)
Fiscal Year 1990: ¥1,600,000 (Direct Cost: ¥1,600,000)
Fiscal Year 1989: ¥4,500,000 (Direct Cost: ¥4,500,000)
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| Keywords | Duchenne muscular dystrophy / Becker muscular dystrophy / Dystrophin / Dystrophin test / DNA diagnosis / Immunocytochemistry / Immunoblotting / 遺伝子産物 / multiplexーPCR法 / 免疫組織化学 / DMD遺伝子 |
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| Research Abstract |
Clinical and Molecular Pathological work-up of Duchenne Muscular Dystrophy gene Product, Dystrophin
There is a growing evidence during past a few years to show the primary features of the pathogenesis of Duchenne muscular dystrophy which is the most common fatal X-linked recessive disease of muscle in children. Discovery of dystrophin, the normal protein product of the Duchenne/Becker muscular dystrophy gene, has enabled the diagnosis of Duchenne and Becker muscular dystrophies based on gene and protein data : "molecular diagnosis". We found that such dystrophin gene and protein tests seem able to accurately distinguish various clinical phenotypes of muscular dystrophies that may or may no be related to the gene. If a patients does not fulfill the basic clinical criteria for Duchenne, Becker muscular dystrophies, an alternative diagnosis such as limb-girdle muscular dystrophy, quadriceps myopathy(QM), hyper CKemia, myoglobinuria can be made, and further molecular diagnosis should be considered. In fact, the syndrome called QM included a group of forme fruste BMD.
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