Descriptive and Functional Genomics in Neonatal Respiratory Distress Syndrome: From Lung Development to Targeted Therapies

Abstract

In this up-to-date study, we first aimed to highlight the genetic and non-genetic factors associated with respiratory distress syndrome (RDS) while also focusing on the genomic aspect of this condition. Secondly, we discuss the treatment options and the progressing therapies based on RNAs or gene therapy. To fulfill this, our study commences with lung organogenesis, a highly orchestrated procedure guided by an intricate network of conserved signaling pathways that ultimately oversee the processes of patterning, growth, and differentiation. Then, our review focuses on the molecular mechanisms contributing to both normal and abnormal lung growth and development and underscores the connections between genetic and non-genetic factors linked to neonatal RDS, with a particular emphasis on the genomic aspects of this condition and their implications for treatment choices and the advancing therapeutic approaches centered around RNAs or gene therapy.

Evaluation of the Copy Number Variants and Single-Nucleotide Polymorphisms of ABCA3 in Newborns with Respiratory Distress Syndrome—A Pilot Study

“…These proteins, expressed permanently with increased peak expression in later gestational stages, are critical for lung surfactant metabolism. Neonatal respiratory distress syndrome may result from variants in the ABCA3 gene or genes encoding surfactant proteins (SFTPA, SFTPB, SFTPC, SFTPD) [ 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 ]. These genes are crucial for encoding essential surfactant components and facilitating the organized assembly and packaging of surfactant phospholipids within lamellar bodies.…”

“…Variants in the SFTPC gene exhibit an autosomal dominant inheritance pattern, varying in expression levels and penetration. Furthermore, approximately 50% are de novo and 50% are inherited [ 17 ].…”