미요시근병증에서 Dysferlin의 면역세포화학검사와 Western Blot의 분석
Immunocytochemical and Western Blot Analysis in Miyoshi Myopathy
1
조회
0
다운로드
1
인용
0
참고문헌
초록
Abstract
Background: Recent genetic analyses have shown that Miyoshi myopathy (MM) is caused by a mutation in the DYSF, which induces the dysfunction of dysferlin. We identified the deficiency of dysferlin by immunohistochemistry and Western blot in four patients with clinically diagnosed MM, and investigated the clinical and pathological characteristics of MM. Methods: A muscle biopsy was performed in four patients who were diagnosed with MM by clinical and electrophysiological study. Immunostaining of muscle specimens for dyferlin, dystrophin, α, β, γ, δ-sarcoglycan, β-dystroglycan, and caveolin-3 were performed in all four patients. We analyzed the quantitative analysis for dysferlin by Western blot in three of four patients. Results: All four patients showed clinical onset during adolescence or early adulthood (15-26 year old), a slowly progressive course, and a relatively high serum creatine kinase level (2240-6400 IU/L). Routine pathological studies showed non-specific myopathic changes. On immunocytochemistry, there was negative immunoreacticity for dysferlin on muscle specimens in all patients. The immunoreactivities for dystrophin, α, β, γ, δ-sarcoglycan, β-dystroglycan, and caveolin-3 were normal. On Western blotting, complete loss of dysferlin was noted in all three patients with MM Conclusions: Identification of isolated deficiency of dysferlin on immunocytochemistry or Western blot is important for the confirmative diagnosis of MM.
참고문헌 (26)
- Liu J, "Dysferlin,a novel skeletal muscle gene,is mutated in Miyoshi myopathy and limb girdle muscular dystrophy", 20, pp.31~36 (1998)
- Ueyama H, "A new dysferlin gene mutation in two Japanese families with limb-girdle muscular dystrophy 2B and Miyoshi myopathy", 11, pp.139~145 (2001)
- Illa I, "Distal anterior compartment myopathy:a dysferlin mutation causing a new muscular dystrophy phenotype", 49, pp.130~134 (2001)
- Illarioshkin SN, "Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy", 119, pp.1895~1909 (1996)
- Illarioshkin SN, "Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy", 55, pp.1931~1933 (2000)
- Weiler T, "Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s)", 8, pp.871~877 (1999)
- Britton S, "The third human FER-1-like protein is highly similar to dysferlin", 68, pp.313~321 (2000)
- Argon Y, "Caenorhabditis elegans fertilization-defective mutants with abnormal sperm", 96, pp.413~433 (1980)
- Bansal D, "Defective membrane repair in dysferlin-deficient muscular dystrophy", 423, pp.168~172 (2003)
- Hong SC, "Distal myopathy of Miyoshi type:1 case", 17, pp.916~919 (1999)
- Lee YH, "A case of Miyoshi type distal myopathy", 19, pp.555~557 (2001)
- Choi YC, "Sporadic inclusion body myositis correlates with increased expression and cross-linking by transglutaminases 1 and 2", 275, pp.8703~8710 (2000)
- Oh SH, "Clinical and pathological characteristics of four Korean patients with Limb-girdle muscular dystrophy type 2B", 19, pp.447~452 (2004)
- Matsuda C, "Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy", 53, pp.1119~1122 (1999)
- Linssen WH, "Miyoshi-type distal muscular dystrophy.Clinical spectrum in 24 Dutch patients", 120, pp.1989~1996 (1997)
- Lennon NJ, "Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing", 278, pp.50466~50473
- Gallardo E, "Inflammation in dysferlin myopathy:immunohistochemical characterization of 13 patients", 57, pp.2136~2138 (2001)
- Tagawa K, "Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients", 211, pp.23~28 (2003)
- Piccolo F, "Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb girdle muscular dystrophies", 48, pp.902~912 (2000)
- Matsuda C, "The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle", 10, pp.1761~1766 (2001)
- Bushby KM, "Making sense of the limb-girdle muscular dystrophies", 122, pp.1403~1420 (1999)
- Walter MC, "Variable reduction of caveolin-3 in patients with LGMD2B", MM, 2003, pp.250, 1431~1438
- Aoki M, "Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy", 57, pp.271~278 (2001)
- Takahashi T, "Dysferlin mutations in Japanese Miyoshi myopathy:relationship to phenotype", 60, pp.1799~1804 (2003)
- Oh SH, "Identification of a dysferlin gene mutation in a Korean case with Miyoshi myopathy", 45, pp.927~930 (2004)
- Oh SH, "Identification of a dysferlin gene mutation in a Korean case with Miyoshi myopathy", 45, pp.927~930 (2004)