Expression of Myoferlin in Skeletal Muscles of Patients with Dysferlinopathy
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- Inoue Masahiko
- Department of Neurology, Showa University Fujigaoka Hospital
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- Wakayama Yoshihiro
- Department of Neurology, Showa University Fujigaoka Hospital
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- Kojima Hiroko
- Department of Neurology, Showa University Fujigaoka Hospital
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- Shibuya Seiji
- Department of Neurology, Showa University Fujigaoka Hospital
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- Jimi Takahiro
- Department of Neurology, Showa University Fujigaoka Hospital
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- Oniki Hiroaki
- Electron Microscopic Laboratory, Showa University Fujigaoka Hospital
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- Nishino Ichizo
- National Center of Neurology and Psychiatry
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- Nonaka Ikuya
- National Center of Neurology and Psychiatry
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抄録
Myoferlin is a novel protein of unknown function with high homology to dysferlin, the gene mutations of which cause limb girdle muscular dystrophy type 2B and Miyoshi myopathy. The myoferlin gene seems to be a candidate for the modifier, and because of the high homology to dysferlin myoferlin may work as a compensator for the absence of dysferlin in dysferlinopathy. This hypothesis is based on the observation that utrophin, which has 80% homology with dystrophin, is overexpressing in the dystrophin deficient myofibers. To test this hypothesis, we investigated the myoferlin expression by immunoblot and immunohistochemical analysis in muscles of five patients with dysferlinopathy. For this aim, we generated a myoferlin specific antibody that does not cross react with dysferlin, and performed the immunoblot, immunohistochemical and immunoelectron microscopic studies. Immunohistochemical analysis showed that the antibodies against myoferlin and dysferlin clearly stained the normal human myofiber surface membranes. The electron microscopy of single immunogold labeled samples for myoferlin showed the presence of the molecular signal along the normal muscle cell membrane. Immunoblot analysis showed that the intensity of 230-kDa myoferlin band of dysferlinopathy muscle extracts was similar to that of normal muscle extracts. The immunostaining of dysferlinopathy muscles with anti-myoferlin antibody revealed a weak immunoreactivity along the muscle cell surface. Thus, the compensatory overexpression of myoferlin was not detected in muscles with dysferlinopathy.
収録刊行物
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- The Tohoku Journal of Experimental Medicine
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The Tohoku Journal of Experimental Medicine 209 (2), 109-116, 2006
東北ジャーナル刊行会
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詳細情報 詳細情報について
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- CRID
- 1390001204240432640
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- NII論文ID
- 10017493023
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- NII書誌ID
- AA00863920
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- ISSN
- 13493329
- 00408727
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- 本文言語コード
- en
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- データソース種別
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- JaLC
- Crossref
- CiNii Articles
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- 抄録ライセンスフラグ
- 使用不可