2010 Fiscal Year Final Research Report
Identification of the responsible gene(s) for congenital heart defect in Down syndrome.
Project/Area Number |
21791007
|
Research Category |
Grant-in-Aid for Young Scientists (B)
|
Allocation Type | Single-year Grants |
Research Field |
Pediatrics
|
Research Institution | Keio University |
Principal Investigator |
MIYAMOTO Ken-ichi Keio University, 医学部, 助教 (00424185)
|
Project Period (FY) |
2009 – 2010
|
Keywords | ダウン症 / 心奇形 / ノックアウトマウス / Zfp295 |
Research Abstract |
Down syndrome (DS) is the most common genetic disease caused by chromosomal aneuploidy, and variable symptoms including the mental retardation and the characteristic face are observed in patients with DS. However, the responsible genes for the incidences of each symptom and their molecular mechanisms have not been cleared. In this study, we focused on the congenital heart defect that is observed with relatively high frequency in DS, and tried to generate the knockout mice of Zfp295 that is one of the candidate genes for Down syndrome congenital heart defect (DS-CHD) to elucidate the molecular pathogenesis of DS-CHD.
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