2004 Fiscal Year Final Research Report Summary
Dysferlionpathy manifesting Limb-girdle type of muscular dystrophy
| Project/Area Number |
15590876
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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 | Tohoku University |
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Principal Investigator |
AOKI Masashi Tohoku University, Hospital, Assistant Professor, 病院, 助手 (70302148)
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| Co-Investigator(Kenkyū-buntansha) |
ITOYAMA Yasuto Tohoku University, Graduate School of Medicine, Professor, 大学院・医学系研究科, 教授 (30136428)
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| Project Period (FY) |
2003 – 2004
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| Keywords | dysferlin / limb girdle muscular dystrophy / Miyoshi myopathy / muscular dystrophy / mutation |
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| Research Abstract |
Mutations in the dysferlin gene cause both Miyoshi myopathy (MM) and limb girdle muscular dystrophy 2B (LGMD2B). In this study, we examined 26 patients with LGMD2B in Japan. Genomic DNA was extracted from the peripheral lymphocytes of the patients with informed consents. The PCR products of each 55 exon were screened by single strand conformation polymorphism (SSCP) or direct sequencing from the PCR fragments.
We identified 11 different mutations in the dysferlin gene in the patients with LGMD2B. Although the two mutations (G3370T and 4870delT) accounted for 52 percent of the mutations in LGMD2B patients, the 3746delG mutation, which is relatively prevalent in MM, was not found in patients with LGMD2B.
We could analyze of clinical features in 13 patients out of them. The mean age at onset of the patients with LGMD2B was 25 ± 7 years (with G3370T mutation 32 ± 6 years ; without G3370T mutation 21 ± 3 years). The serum CK level was very high, although the serum CK level fell in parallel to duration of the illness. The G3370T mutation may be associated with the late onset of LGMD2B, the progression rate of the disease was the same among the mutations.
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Research Products
(5 results)
