[The mechanism of TBX5 abnormal expression in simple congenital heart disease].
Yi Chuan
; 31(4): 374-80, 2009 Apr.
Article
em Zh
| MEDLINE
| ID: mdl-19586889
ABSTRACT
To explore the mechanism of TBX5 abnormal expression in simple congenital heart disease (CHD), 100 CHD venous blood, 50 CHD heart tissues, and 5 non-CHD heart tissues were involved in this study. The mutation and methylation in the 1 200 bp region upstream of TBX5 gene were detected by high-performance liquid chromatography (DHPLC) and methylation-sensitive restriction endonuclease (MS-RE), respectively. The binding site of NKX2-5 to Tbx5 predicted by P-MATCH software was validated by EMSA (Electrophoretic mobility shift assay). Tbx5 gene expression in mouse cardiac muscle cell H9C2(2-1) transfected with NKX2-5 expression vector was evaluated. No mutation was found in all patients. Both non-CHD and CHD heart tissues had the same methylation in the two CpG islands. Exogenous Nkx2-5 efficiently activated the transcription of the endogenous Tbx5 gene in H9C2 (2-1) cells. EMSA showed that the special binding band appeared when Nkx2-5 existed. These results indicates that the down expression of TBX5 might not be caused by mutation and methylation in the 1 200 bp region upstream of gene, and might be regulated by abnormal expression of NKX2-5 gene in heart muscle of CHD.
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Base de dados:
MEDLINE
Assunto principal:
Proteínas com Domínio T
/
Cardiopatias Congênitas
Tipo de estudo:
Prognostic_studies
Limite:
Animals
/
Female
/
Humans
/
Newborn
/
Pregnancy
Idioma:
Zh
Revista:
Yi Chuan
Assunto da revista:
GENETICA
Ano de publicação:
2009
Tipo de documento:
Article
País de afiliação:
China