1992 Fiscal Year Final Research Report Summary
Establishment of diagnostic networks and DNA bank for neuromuscular disorders
| Project/Area Number |
03304034
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| Research Category |
Grant-in-Aid for Co-operative Research (A)
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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 |
NONAKA Ikuya National Institute of Neuroscience, NCNP, Div. of Ultrastructural Research, Head, 神経研究所・微細構造研究部, 部長 (80040210)
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| Co-Investigator(Kenkyū-buntansha) |
HORAI Satoshi National Institute of Genetics, Department of Human Genetics, Associate Professo, 人類遺伝学教室, 助教授 (40126157)
SUGIE Hideo Hamamatsu University Medical School, Department of Pediatrics, Lecturer, 助手 (60119980)
KOBAYASHI Masanori Nagoya City University Medical School, Department of Pediatrics, Lecturer, 医学部 小児科, 助手 (50170353)
ARAHATA Kiichi same as above, Div. of Neuromuscular Research, Head, 神経センター・神経研究所・疾病研究第一部, 部長 (30053325)
GOTO Yuichi same as above, Researcher, 神経センター・神経研究所・微細構造研究部, 研究員 (20225668)
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| Project Period (FY) |
1991 – 1992
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| Keywords | mitochondrial disease / mitochondrial DNA mutation / progressive muscular dystrophy / Duchenne type / Becker type / dystrophin / metabolic myopathy |
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| Research Abstract |
From mitochondrial DNA analyses and pathologic evaluation, 117 patients have been diagnosed as having mitochondrial disorders, including 28 patients with progressive external ophthalmoplegia (CPEO), 42 with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), and 4 with myoclonus epilepsy with ragged-red fibers (MERRF). All mitochondrial DNA extract ed from muscles and/or blood samples have been kept in our DNA bank system, and are now provided to many researchers all over the world. For 350 patients with progressive muscular dystrophies, defects in the dystrophin gene were analysed and dystrophin tests including immunostaining and immunoblotting were applied to confirm dystrophin abnormalities. In addition, 40 patients were diagnosed as having metabolic myopathies including 17 patients with glycogen storage diseases and 4 with carnitine palmitoyltransferase deficiency. All muscle samples have been kept in our bank system for future study.
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[Publications] Arahata K, Beggs AH, Honda H, Ito S, Ishiura S, Tsukahara T, Ishiguro T, Eguchi C, Orimo S, Arikawa E, Kaido M, Nonaka I, Sugita H, Kunkel LM: "Preservation of the C-terminus of dystrophin molecule in the skeletal muscle from Becker muscular dystrophy" J Neurol Sci. 101. 148 (1991)
Description
「研究成果報告書概要(欧文)」より
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[Publications] Kobayashi M, Ishiki T, Sugiyama N, Sano T, Ban T, Tsuboi T, Inagaki H, Okajima K, Sobajima H, Suzuki S, Togari H, Wada Y, Tada T, Naito E, Kuroda Y: "Multiple enzyme defects in mitochondria of a case with congenital lactic acidosis and hyperammonaemia" J Inherited Metab Dis. 15. 809-814 (1992)
Description
「研究成果報告書概要(欧文)」より
