Discipline of Descriptive and Topographic Anatomy, Department of Morphology and Genetics, Federal University of São Paulo, São Paulo, São Paulo, Brazil.
Health School of Faculdades Metropolitanas Unidas - FMU, São Paulo, São Paulo, Brazil.
Cardiol Young. 2020 Feb;30(2):238-242. doi: 10.1017/S104795111900297X. Epub 2019 Dec 17.
Hypoplastic left heart syndrome consists of several structural abnormalities in the left side of the heart and may be associated with a hereditary genetic cause, possibly related to the connexin gene GJA1; however, only a few studies have investigated it. The present study aimed to analyse the expression of connexin-43 in the cardiac muscle of hypoplastic left heart syndrome children by Western blot method and confocal laser scanning microscopy. For that, tissue samples were taken during corrective surgery to treat heart defects. Patients of control group (8) presented any type of heart defect not related to hypoplastic left heart syndrome, connexin-43, or its gene and those of hypoplastic left heart syndrome group (9) presented this disease singly, without any other associated congenital diseases. By means of confocal laser scanning microscopy, it was noticed no connexin-43 qualitative differences in positioning and location pattern between both groups. From Western blot analysis, the connexin-43 expression did not show a statistically significant difference (p = 0.0571) as well. Within the limits of this study, it is suggested that cardiomyocytes of hypoplastic left heart syndrome children are similar in connexin-43 location, distribution, and structural and conformational patterns to those of children with heart defects not related to this protein and its genes.
左心发育不全综合征包括心脏左侧的几种结构异常，可能与遗传性遗传原因有关，可能与连接蛋白基因 GJA1 有关；然而，只有少数研究对此进行了调查。本研究旨在通过 Western blot 法和共聚焦激光扫描显微镜分析左心发育不全综合征患儿心肌中连接蛋白 43 的表达。为此，在心脏缺陷矫正手术期间采集组织样本。对照组（8 例）的患者有任何类型的与左心发育不全综合征、连接蛋白 43 或其基因无关的心脏缺陷，左心发育不全综合征组（9 例）则单独患有这种疾病，没有任何其他相关的先天性疾病。通过共聚焦激光扫描显微镜观察到两组之间在定位和位置模式方面没有连接蛋白 43 的定性差异。通过 Western blot 分析，连接蛋白 43 的表达也没有显示出统计学上的显著差异（p = 0.0571）。在本研究的范围内，提示左心发育不全综合征患儿的心肌在连接蛋白 43 的位置、分布以及结构和构象模式方面与不涉及该蛋白及其基因的心脏缺陷患儿的心肌相似。
