1991 Fiscal Year Final Research Report Summary
Molecular Pathological Analysis of the Duchenne Muscular Dystrophy Gene Product, Dystrophin.
| 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
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| Project Period (FY) |
1989 – 1991
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| Keywords | Duchenne muscular dystrophy / Becker muscular dystrophy / Dystrophin / Dystrophin test / DNA diagnosis / Immunocytochemistry / Immunoblotting |
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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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[Publications] Arahata, K., Beggs, A. H., Honda, H., Ito, S., Ishiura, S., Tsukahara, T., Ishiguro, T., Eguchi, C., Orimo, S., Arikawa, E., Kaido, M., Nonaka, I., Sugita, H. and Kunkel, L. M.: "Preservation of the C-terminus of dystrophin molecule in the skeletal muscle from Becker muscular dystrophy." J. Neurol. Sci.101. 148-156 (1991)
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「研究成果報告書概要(欧文)」より
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[Publications] Arikawa, E., Hoffman, E. P., Kaido, M., Nonaka, I., Sugita, H. and Arahata, K.: "The frequency of patients having dystrophin abnormalities in a limbgirdle patient population." Neurology. 41. 1491-1496 (1991)
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[Publications] Yamaguchi, M., Ishiura, S., Obinata, T., Tsukahara, T., Arahata, K., Takano-Ohmuro, H., Tamiya, T., Tsuchiya, T. and Sugita, H.: "Antiserum against the synthetic polypeptide fragment of dystrophin cross-reacts with myofibrillar C-protein." Pro. Japan. Acad.66B. 19-22 (1990)
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「研究成果報告書概要(欧文)」より
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[Publications] Ishiura, S., Arahata, K., Tsukahara, T., Koga, R., Anraku, H., Yamaguchi, T., Nonaka, I. and Sugita, H.: "Antibody against the C-terminal portion of dystrophin crossreacts with the 400 kDa protein in the pia mater of dystrophin-deficient mdx mouse brain." J. Biochem.107. 510-513 (1990)
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「研究成果報告書概要(欧文)」より
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[Publications] Arahata, K., Hoffman, E. P. Kunkel, L. M., Ishiura, S., Tsukahara, T., Ishihara, T., Sunohara, N., Nonaka, I., Ozawa, E. and Sugita, H.: "Dystrophin diagnosis : comparison of dystrophin abnormalities by immunofluorescent and immunoblot analyses." Proc. Natl. Acad. Sci. (USA). 86. 7154-7158 (1989)
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「研究成果報告書概要(欧文)」より
