COL1A1 regulates the apoptosis of embryonic stem cells by mediating the PITX1/TBX4 signaling

Birth Defects Res. 2024 Jan;116(1):e2277. doi: 10.1002/bdr2.2277. Epub 2023 Dec 30.

Abstract

Purpose: The purpose of this study is to explore the regulatory function of COL1A1 against the apoptosis of embryonic stem cells (ESCs) and the potential function in congenital talipes equinovarus (CTEV).

Methods: Muscle tissues were collected from 20 children with CTEV and 20 children without CTEV, followed by detecting the expression of COL1A1 using the RT-PCR method. COL1A1 was knocked down in H1 and H9 human ESCs using the RNA interference technology, followed by determining the level of COL1A1, PITX1, TBX4, HOXD10, Fas, FasL, and Bax using the Western blotting assay.

Results: COL1A1 was found markedly upregulated in muscle tissues of CTEV children. In H1 and H9 human ESCs, compared to the empty vector, COL1A1, PITX1, TBX4, HOXD10, Fas, FasL, and Bax were found notably downregulated after transfected with the siRNA targeting COL1A1.

Conclusion: COL1A1 induced the apoptosis of ESCs by mediating the PITX1/TBX4 signaling and might be a potential target for treating CTEV.

Keywords: COL1A1; PITX1/TBX4 signaling; congenital talipes equinovarus; embryonic stem cells.

MeSH terms

  • Apoptosis / genetics
  • Child
  • Clubfoot* / genetics
  • Embryonic Stem Cells
  • Humans
  • T-Box Domain Proteins / genetics
  • bcl-2-Associated X Protein / genetics

Substances

  • bcl-2-Associated X Protein
  • T-Box Domain Proteins
  • TBX4 protein, human
  • COL1A1 protein, human