Huesca-Gomez Claudia, Gonzalez-Moyotl Nadia, Romero-Maldonado Silvia, Samano Reyna, Gamboa Ricardo
Physiology Department, Instituto Nacional de Cardiologia Ignacio Chávez, México.
Coordination of the Human Milk Bank, Instituto Nacional de Perinatología, México.
Postepy Kardiol Interwencyjnej. 2025 Jun 4;21(2):247-254. doi: 10.5114/aic.2025.151804. eCollection 2025 Jun.
Congenital heart disease (CHD) is the most common malformation from birth. The severity of the different forms of CHD varies extensively from superficial mild lesions with follow-up for decades without any treatment to complex cyanotic malformations requiring urgent surgical intervention. One of the most common severe forms of CHD is tetralogy of Fallot (TOF), characterized by a misalignment of the canal septum leading to a deviation of the aorta to the right. microRNAs (miRs) are crucial in cardiac development, giving rise to possible phenotypes in CHD.
We aimed to evaluate the expression of miRs in 23 children with TOF and 45 controls and correlate them with the clinical characteristics of both the children and the mothers.
We analyzed the miRNA expression of miR-21-5p, miR-155-5p, miR-221-3p, miR-26a-5p, and miR-144-3p by RT-qPCR.
In this study, we found that miR-221-5p, miR-21-5p, and miR-144-3p exhibited a significant difference in expression compared to controls. Through bioinformatics analysis, we found that the target genes of analyzed mIRs are members of the AKT1, SMAD, TNF-α, and FOX families. All have in common that they are associated with different cellular pathways that lead to cell cycle changes, cell growth, and apoptosis, mainly in hypoxic conditions.
The expression levels of miRs in pediatric patients may contribute to the development of TOF. Additionally, the high expression of miR-221-5p, miR-21-5p, and miR-144-3p in children with TOF is associated with genes associated with many cellular pathways involved in TOF development.
先天性心脏病（CHD）是最常见的出生时的畸形。不同形式的CHD严重程度差异很大，从无需治疗可随访数十年的表浅轻度病变到需要紧急手术干预的复杂青紫型畸形。CHD最常见的严重形式之一是法洛四联症（TOF），其特征是管间隔不对位导致主动脉向右偏移。微小RNA（miRs）在心脏发育中至关重要，可能导致CHD出现各种表型。
我们旨在评估23例TOF患儿和45例对照中miRs的表达，并将其与患儿及母亲的临床特征相关联。
我们通过RT-qPCR分析了miR-21-5p、miR-155-5p、miR-221-3p、miR-26a-5p和miR-144-3p的miRNA表达。
在本研究中，我们发现与对照组相比，miR-221-5p、miR-21-5p和miR-144-3p的表达存在显著差异。通过生物信息学分析，我们发现所分析的miRs的靶基因是AKT1、SMAD、TNF-α和FOX家族的成员。它们的共同之处在于，它们与不同的细胞途径相关，这些途径主要在缺氧条件下导致细胞周期变化、细胞生长和凋亡。
儿科患者中miRs的表达水平可能有助于TOF的发生发展。此外，TOF患儿中miR-221-5p、miR-21-5p和miR-144-3p的高表达与许多参与TOF发展的细胞途径相关的基因有关。
