| Project/Area Number |
07670908
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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 |
Pediatrics
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| Research Institution | Tokyo Women's Medical College |
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Principal Investigator |
IKEYA Kiyoko Tokyo Women's Medical College, Dept.of Pediatrics, Assistant Professor, 医学部, 講師 (70151313)
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| Co-Investigator(Kenkyū-buntansha) |
MOMINE Satoshi Tokyo Women's Medical College, Dept.of Pediatrics, Assistant, 医学部, 助手 (30225578)
SAITO Kayoko Tokyo Women's Medical College, Dept.of Pediatrics, Associate Professor, 医学部, 助教授 (90138834)
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| Project Period (FY) |
1995 – 1997
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| Project Status |
Completed (Fiscal Year 1997)
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| Budget Amount *help |
¥2,200,000 (Direct Cost: ¥2,200,000)
Fiscal Year 1997: ¥300,000 (Direct Cost: ¥300,000)
Fiscal Year 1996: ¥800,000 (Direct Cost: ¥800,000)
Fiscal Year 1995: ¥1,100,000 (Direct Cost: ¥1,100,000)
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| Keywords | limb-girdle type muscular dystrophy (LG) / sarcoglycanopathy / alpha-sarcoglycan / immunohistochemical analysis / PCR / サルコグリカノパチー / サルコグリカン / ジストロフィン結合蛋白 |
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| Research Abstract |
We analyzed 232 cases with neuromuscular disorders including 122 with muscular dystrophies. The details are as follows ; 25 with Duchenne type (DMD), 4 DMD carrier, 18 with Becker type (BMD), 25 with congenital type (CMD), 7 with facioscapulohumeral type (FSH) and 9 with limb-girdle type (LG). The diagnosis of DMD,DMD carrier and BMD was confirmed by immunohistochemical analyzes of dystrophin antibodies. alpha-sarcoglycan was analyzed immunohistochemically in eight clinically diagnosed LG cases and was found to be absent in one case.
The molecular analysis of alpha-sarcoglycan was performed in all nine LG cases and two unaffected family members of one case. The PCR primers were constructed in exon* of alpha-sarcoglycan, a mutational hot spot. In one of the nine patients, in whom no muscle tissue was available unfortunately, we found a mutation and direct sequencing analysis revealed one base substitution (C to T at nt.229). This patient was a homozygote for thismutation. The unaffected mother of this case carried the same mutation and the wild type chromosome, indicating that she was a heterozygote. This mutation was not found in the case in which alpha-sarcoglycan staining was absent.
From these results, we concluded that only two of our nine LG cases could be diagnosed as having sarcoglycanopathy. These cases show the following characteristic features : nomal motor development, very rapid progression, absence of mental retardation, slight facial muscle involvement, myalgia and greater involvement of flexor than extensor muscle neck.
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