1998 Fiscal Year Final Research Report Summary
Molecular cytogenetic study of the myotonic dystrophy by in situ hybrdization (ISH)
| Project/Area Number |
09670644
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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, Assistant Professor, 難治疾患研究所, 助手 (10158917)
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| Co-Investigator(Kenkyū-buntansha) |
TSUKAHARA Toshifumi National Institute of Neuroscience, NCNP,Chief Researcher, 神経センター・神経研究所, 室長 (60207339)
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| Project Period (FY) |
1997 – 1998
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| Keywords | triplet repeat / myotonic dystrophy / ISH method / DM protein kinase / RNA dynamics |
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| Research Abstract |
Myotonic dystrophy (DM) is an autosomal dominant disease, whose responsible gene encodes DM protein kinase (DMPK) and is located on the chromosome 19q 13. Though DM is caused by abnormal expansion of triplet (CTG) repeat at 3'UTR of DMPK gene, the molecular mechanism of the causing disease have been still unknown.
In this study, we have gained the following results by using in situ hybridization (ISH) method to search the molecular pathogenesis of DM.It shows that (1) DMPK transcripts from mutant allele were accumulated in the nuclei of the LCL obtained from the patients, (2) the accumulated transcripts were mainly mRNA rather than pre-mRNA from mutant allele. Moreover, the amount of mRNA in the nuclei of the patients was found to be significantly higher than those in the nuclei of the normal individuals by the molecular biological study, which supports the result by ISH method described above.
As the result that the processed mIRNA transcribed from mutant allele are accumulated in the nuclei of the patients may provide a key point to study the pathogenesis of the patients with various clinical features, we will make a further study to resolve the problem.
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Research Products
(22 results)
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[Publications] Song J., Murakami H., Yang Z.Q., Koga C., Adati N., Murata T., Geltinger C., Saito-Ohara F., Ikeuchi T., Matsumura M., Itakura K., Kanazawa I., Sun K.and Yokoyama K.K.: "Human genes for KNSL4 and Maz are located close to one another on chromosome 16p11.2." Genomics. 52. 374-377 (1998)
Description
「研究成果報告書概要(欧文)」より
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