2009 Fiscal Year Final Research Report
An approach to treatment of dilated cardiomyopathy caused by dystrophin abnormality
| Project/Area Number |
19591209
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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 | Kumamoto University |
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Principal Investigator |
KIMURA Shigemi Kumamoto University, 大学院・生命科学研究部, 准教授 (60284767)
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| Project Period (FY) |
2007 – 2009
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| Keywords | 筋ジストロフィー / 拡張型心筋症 / アイソフォーム / ジストロフィン / 全国調査 / エクソン1 |
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| Research Abstract |
One of the causes of dilated cardiomyopathy is reported the abnormality of around exon 1 of the dystrophin, which is cause of Duchenne muscular dystrophy. We investigated analysis of the onset mechanisms and the frequency in this study. One of two cases showed that mutation in the splice donor site of exon 1 of dystrophin but another case did not. In spite of abnormality of dystrophin, the non-muscle weakness is explained that dystrophin isoform compensated in a skeletal muscle.
We analyzed dystrophin regulation with DNA array, but the known pathway did not have shown.
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[Journal Article] A 2-bp deletion in exon 74 of the dystrophin gene does not clearly induce muscle weakness2009
Author(s)
Kimura S, Ito K, Ueno H, Ikezawa M, Takeshima Y, Yoshioka K, Ozasa S, Nakamura K, Nomura K, Matsukura M, Mitsui K, Matsuo M, Miike T
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Journal Title
Brain Dev 31
Pages: 169-172
Peer Reviewed
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[Journal Article] Clinical Outcomes after Long-term Treatment with Alglucosidase Alfa in Infants and Children with Advanced Pompe Disease2009
Author(s)
Nicolino M, Byrne B, Wraith JE, Leslie N, Mandel H, Freyer DR, Arnold GL, Pivnick EK, Ottinger CJ, Robinson PH, Loo JC, Smitka M, Jardine P, Tato L, Chabrol B, McCandless S, Kimura S, Mehta L, Bali D, Skrinar A, Morgan C, Rangachari L, Corzo D, Kishnani PN
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Journal Title
Genet Med 11
Pages: 210-219
Peer Reviewed
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[Journal Article] Efficient Conversion of ES Cells into Myogenic Lineage Using the Gene-Inducible System2007
Author(s)
Ozasa S, Kimura S, Ito K, Ueno H, Ikezawa M, Matsukura M, Yoshioka K, Araki K, Yamamura KI, Abe K, Niwa H, Miike T
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Journal Title
Biochmen. Bioph. Res. Co 357
Pages: 957-963
Peer Reviewed
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[Journal Article] Novel mutation in splicing donor of dystrophin gene first exon in a patient with dilated cardiomyopathy but no clinical signs of skeletal myopathy2007
Author(s)
Kimura S, Ikezawa M, Ozasa S, Ito K, Ueno H, Yoshioka K, Ijiri S, Nomura K, Nakamura K, Matuskura M, Miike T
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Journal Title
J Child Neurol 22
Pages: 901-906
Peer Reviewed
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