| Project/Area Number |
11670612
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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 | Tokyo Medical & Dental University |
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Principal Investigator |
SAITO Fumiko Medical Research Institute, Molecular Cytogenetics Assistant Professor, 難治疾患研究所, 助手 (10158917)
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| Co-Investigator(Kenkyū-buntansha) |
TODA Tatsushi Biomedical Research Center, Medical Genetics Professor, バイオメディカル教育研究センター, 教授 (30262025)
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| Project Period (FY) |
1999 – 2000
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| Project Status |
Completed (Fiscal Year 2000)
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| Budget Amount *help |
¥3,500,000 (Direct Cost: ¥3,500,000)
Fiscal Year 2000: ¥1,000,000 (Direct Cost: ¥1,000,000)
Fiscal Year 1999: ¥2,500,000 (Direct Cost: ¥2,500,000)
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| Keywords | Fukuyama-type muscular dystrophy / the untranslated region of the gene / ISH method / mRNA metabolism |
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| Research Abstract |
Fukuyama-type congenital muscular dystrophy(FCMD)is an autosomal recessive disease in Japan(incidence is 0.7-1.2 per 10,000 births). Though Prof.Toda(co-investigator)et al.had recently identified a retro-transposal insertion of tandem repeats in the 3' untranslated region(UTR)of FCMD gene at 9q31(the founder haplotype)in the patients, the molecular mechanism of the causing disease has been still unknown. In this research project, we have succeeded in the detection of the transcript of FCMD within the nucleus by the method of in istu hybridization(ISH), and performed the two-color ISH method using various DNA clones investigate the dynamism of mRNAs in the cell nucleus of the patients. The results showed that the level of the transcripts of FCMD in the patients was very low(〜20%)in comparison with the normal individuals, which confirm the result of the molecular study by the co-investigator, which indicate that FCMD patients have the abnormality of the mRNA metabolism and mRNA of the mutant allele is transcribed but low or the stability of the transcript was low. As this may provide a key point to study the pathogenesis of the disease, we will make a further study to resolve the problem.
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