Event Title

Role of GATA4 and NKX2-5 Mutations in Ventricular Septal Defects

Date

4-9-2022

Location

Schewel 2nd Floor Lobby

Description

Proper heart development depends on a highly specified network of gene regulation (Saliba et al., 2020). The smallest change in this sensitive process can cause a birth defect. Ventricular septal defects (VSD), the most common type of congenital heart disease, affect more than one in every three hundred births (Gruber & Epstein, 2004). Most cases of VSDs are linked to gene mutations. GATA4 and NKX2-5, highly conserved transcription factors, are among the first genes expressed in the developing heart. Mutations in these genes change their affinity for DNA binding, impact interaction between transcription factors, and alter the expression of other genes. Although the role of genetic mutations in heart organogenesis is not entirely understood, recent studies using mutated cardiac progenitor cells and mouse models have provided new insights into the complex networks that regulate heart development.

Presentation Type

Poster

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Role of GATA4 and NKX2-5 Mutations in Ventricular Septal Defects

Schewel 2nd Floor Lobby

Proper heart development depends on a highly specified network of gene regulation (Saliba et al., 2020). The smallest change in this sensitive process can cause a birth defect. Ventricular septal defects (VSD), the most common type of congenital heart disease, affect more than one in every three hundred births (Gruber & Epstein, 2004). Most cases of VSDs are linked to gene mutations. GATA4 and NKX2-5, highly conserved transcription factors, are among the first genes expressed in the developing heart. Mutations in these genes change their affinity for DNA binding, impact interaction between transcription factors, and alter the expression of other genes. Although the role of genetic mutations in heart organogenesis is not entirely understood, recent studies using mutated cardiac progenitor cells and mouse models have provided new insights into the complex networks that regulate heart development.