2013 Fiscal Year Final Research Report
Epigenomics and muscular dystrophy
| Project/Area Number |
24659437
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Single-year Grants |
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| Research Field |
Neurology
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| Research Institution | Tokyo Medical University (2013)
独立行政法人国立精神・神経医療研究センター (2012) |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
KUBOTA Takeo 山梨大学, 医学工学総合研究部, 教授 (70293511)
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| Co-Investigator(Renkei-kenkyūsha) |
NOGUCHI Satoru 国立精神・神経医療研究センター神経研究所, 疾病研究第一部, 室長 (00370982)
NISHINO Ichizo 国立精神・神経医療研究センター神経研究所, 疾病研究第一部, 部長 (00332388)
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| Research Collaborator |
SATO Hidenori 山形大学, 第3内科, 准教授
SATO Takatoshi 東京女子医科大学, 小児科, 医員
ISHIYAMA Teruhiko 国立精神・神経医療研究センター病院, 医長
AMANAKA Kohei 国立精神・神経医療研究センター神経研究所, 疾病研究第一部, 研究生
GOTO Kanako 国立精神・神経医療研究センター神経研究所, 疾病研究第一部, 研究員
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| Project Period (FY) |
2012-04-01 – 2014-03-31
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| Keywords | 遺伝学 / エピゲノム / 細胞・組織 / メチル化 / 筋疾患 |
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| Research Abstract |
Facioscapulohumeral muscular dystrophy (FSHD) is caused by truncation of 3.3-kb D4Z4 repeats on the chromosome 4q35, which is thought to have close association with epigenomic changes. In this study, we performed genome-wide methylation study by using high dense methylation array, but no specific changes were found between the patients and their healthy parents. Next, we performed specific methylation study of the disease associated genomic region of FSHD. We found negative correlation between clinical severity and DNA methylation. This affected chromosome-specific analysis is useful to elucidate pathogenesis of FSHD.
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