Pathological and molecular genetic studies on collagen VI deficient Ullrich's disease
| Project/Area Number |
14570611
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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 |
Neurology
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| Research Institution | Kagoshima University |
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Principal Investigator |
HIGUCHI Itsuro Kagoshima University Hospital, Faculty of Medicine and Dentistry, Assistant Professor, 歯学部附属病院, 講師 (80183573)
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| Co-Investigator(Kenkyū-buntansha) |
OSAME Mitsuhiro Kagoshima University, Graduate School of Medical and Dental Sciences, Professor, 大学院・医歯学総合研究科, 教授 (10041435)
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| Project Period (FY) |
2002 – 2003
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| Project Status |
Completed (Fiscal Year 2003)
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| Budget Amount *help |
¥3,100,000 (Direct Cost: ¥3,100,000)
Fiscal Year 2003: ¥1,100,000 (Direct Cost: ¥1,100,000)
Fiscal Year 2002: ¥2,000,000 (Direct Cost: ¥2,000,000)
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| Keywords | Ullrich's disease / Extracellular matrix / Collagen VI / Proteoglycan / Fibronectin receptor / collagen VI / NGZproteoglycan / myosin heavy chain / fibronectin |
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| Research Abstract |
Patients with Ullrich's disease have generalized muscle weakness, multiple contractures of the proximal joints and hyperextensibility of the distal joints. Recently, we found a deficiency of collagen VI protein in skeletal muscle from two patients with Ullrich's disease.In this study, we performed electron microscopic and immunohistochemical investigations on biopsied skeletal muscles. We found electron microscopic abnormalities of skeletal muscle membrane and capillaries.Furthermore we found a marked reduction of fibronectin receptors in the extracellular matrix of skin and cultured fibroblasts of these patients and found that very small muscle fibers in the patients with Ullrich's disease showed poor expression of developmental myosin heavy chain and thrombomodulin.These findings suggest that abnormality of cell adhesion and abnormal regeneration or maturation processes are involved in the pathogenesis of dystrophic muscle changes at least in the advanced stage of Ullrich's disease.
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Report
(3 results)
Research Products
(15 results)
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[Publications] Niiyama T, Higuchi I, Hashiguchi T, Suehara M, Uchida Y, Horikiri T, Shiraishi T, Saito A, Hu J, Nakagawa M, Arimura K, Osame M.: "Capillary changes in skeletal muscle of patients with Ullrich's disease with collagen VI deficiency."Acta Neuropathol. 106. 137-142 (2003)
Description
「研究成果報告書概要(欧文)」より
Related Report
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[Publications] Higuchi I, Horikiri T, Niiyama T, Suehara M, Shiraishi T, Hu J, Uchida Y, Saito A, Nakagawa M, Arimura K, Osame M.: "Pathological characteristics of skeletal muscle in Ullrich's disease with collagen VI deficiency."Neuromuscul Disord. 13. 310-316 (2003)
Description
「研究成果報告書概要(欧文)」より
Related Report
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