2012 Fiscal Year Final Research Report
The study for fetal growth restriction by epigenetic and geneticanalyses
| Project/Area Number |
22591831
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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 |
Obstetrics and gynecology
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| Research Institution | Nagoya City University |
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Principal Investigator |
SUZUMORI Nobuhiro 名古屋市立大学, 大学院・医学研究科, 准教授 (70326148)
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| Co-Investigator(Renkei-kenkyūsha) |
SUGIURA-OGASAWARA Mayumi 名古屋市立大学, 大学院・医学研究科, 教授 (30264740)
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| Project Period (FY) |
2010 – 2012
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| Keywords | 胎児発育 / 流産 / エピジェネティクス / 胎盤・絨毛 / 遺伝子多型 / DNA メチル化 / 不育症 |
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| Research Abstract |
Human chromosome 14q32.2 carries a cluster of imprinted genes including paternally expressed genes such as DLK1and RTL1and maternally expressed genes such as MEG3(aliasGTL2) and RTL1as(RTL1 antisense), together with the germline-derived intergenic differentially methylated region (IG-DMR) and the postfertilization-derived MEG3-DMR. Consistent with this, paternal uniparental disomy 14 (upd(14)pat) results in a unique phenotype characterized by facial abnormality, small bell-shaped thorax with coat-hanger appearance of the ribs, abdominal wall defects, placentomegaly, and polyhydramnios, and maternal uniparental disomy 14 (upd(14)mat) leads to less-characteristic but clinically discernible features including growth failure. We found the 657T>C mutation of SYCP3may not be associated with recurrent miscarriage caused by 機関番号：23903 研究種目：基盤研究（C） 研究期間：2010 ～ 2012 課題番号：22591831 研究課題名（和文）胎児発育不全におけるエピジェネティクス分析と関連遺伝子の解析 研究課題名（英文）The study for fetal growth restriction by epigenetic and geneticanal
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yses研究代表者 鈴森 伸宏（SUZUMORI NOBUHIRO） 名古屋市立大学・大学院医学研究科・准教授 研究者番号：70326148 aneuploidy. No clinical significance of routine examination of SYCP3 mutation was found because only one benign mutation was ascertained in 101 patients. Our patient with 657T>C had repeated miscarriages with euploidy. Our data showed that among the normal fetal karyotypes, XX and XY were found at a similar frequency, indicating that fetal rather than maternal karyotypes were obtained. In this study, about 90 % of patients with abnormal and normal embryonic (fetal) karyotype tended to have repeat miscarriages with abnormal and normal karyotypes, respectively. Our data suggest that the 657T>C mutation is a polymorphism without the specific function ascertained. Further studies with larger numbers and a wide range of cases are needed to define if the SYCP3mutations can be a cause of recurrent miscarriage. As forANXA5, The variations with the ANXA5gene upstream region, especially SNP5 were confirmed to be risk factors of RPL. However, clinical use was not needed because we could not ascertain the predictive value of risk allele for further miscarriage. Less
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[Journal Article] Paternal uniparental disomy 14 and related disorders: Placental gene expression analyses and histological examinations2012
Author(s)
Kagami M, Matsuoka K, Nagai T, Yamanaka M, Kurosawa K, Suzumori N, Sekita Y,Miyado M, Matsubara K, Fuke T, Kato F, Fukami M, Ogata T
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Journal Title
Epigenetics
Volume: 7
Pages: 1142-1150
DOI
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