ABCA3 c.838C>T (p.Arg280Cys, R280C) and c.697C>T (p.Gln233Ter, Q233X, Q233*) as Causative Variants for RDS: A Family Case Study and Literature Review DOI Creative Commons
Maria Livia Ognean, Mădălina Anciuc-Crauciuc, Radu Galiș

et al.

Biomedicines, Journal Year: 2024, Volume and Issue: 12(10), P. 2390 - 2390

Published: Oct. 18, 2024

Respiratory distress syndrome (RDS) is the primary cause of respiratory failure in preterm infants, but it also affects 5-7% term infants. Dysfunctions pulmonary surfactant metabolism, resulting from mutations lung genes, are rare diseases, ranging fatal neonatal RDS to interstitial disease, associated with increased morbidity and mortality. This study aims clarify clinical significance ABCA3 variants found a specific family case, as existing data literature inconsistent.

Language: Английский

Glucagon-like peptide-1 receptor signaling activation in alveolar type II cells enhances lung development in neonatal rats exposed to hyperoxia DOI Creative Commons
T. Sun, Haiyang Yu, Dingning Zhang

et al.

Redox Biology, Journal Year: 2025, Volume and Issue: 82, P. 103586 - 103586

Published: March 6, 2025

Many studies have reported the important role of glucagon-like peptide-1 receptor (GLP-1R) in regulating glucose homeostasis. However, addition to pancreas, GLP-1R is distributed organs such as lungs. A few researches mechanism action acute and chronic lung diseases. Nevertheless, its effect on development remains unclear. In this research, we aimed explore potential mechanisms vivo vitro bronchopulmonary dysplasia (BPD) models. Neonatal Sprague-Dawley rats were divided into hyperoxia (FIO2 = 0.85) control 0.21) groups. Lung tissues extracted at 3, 7, 10, 14 postnatal days subjected hematoxylin eosin staining for histopathological morphological observation. Single-cell RNA sequencing was performed development. Western blotting conducted assess expression GLP-1R, dynamin-related protein 1 (DRP1), glycolysis-associated enzymes, including phosphofructokinase (PFKM), hexokinase 2 (HK2), lactate dehydrogenase (LDHA), tissues, primary alveolar type II (ATII) cells, RLE-6TN cells. Double immunofluorescence confirm co-localization DRP1, ATII Seahorse XF96 metabolic extracellular flux analyzer used perform real-time analyses acidification rate oxygen consumption cells isolated from The adenosine triphosphate (ATP) concentrations measured using an ATP kit. Mitochondria stained with MitoTracker observed HiS-SIM. gene levels tested RT-qPCR. We MeRIP-qPCR determine m6A modification level mRNA reporter verify site key methyltransferases. that signaling regulates plays a particularly after birth. Hyperoxia inhibits accelerates BPD production decreased glycolysis increased under hyperoxia. Activation promotes downregulates by DRP1 induced mitochondria fission. verified decreased; primarily methyltransferase-like (METTL14). expressed neonatal can promote during early period. pathway modulates mitochondrial fission metabolism inhibit activation inhibiting methylation pathogenesis.

Language: Английский

Citations

0
Evaluation of the Copy Number Variants and Single-Nucleotide Polymorphisms of ABCA3 in Newborns with Respiratory Distress Syndrome—A Pilot Study DOI Creative Commons
Mădălina Anciuc-Crauciuc, Manuela Cucerea, Andrei Crauciuc

et al.

Medicina, Journal Year: 2024, Volume and Issue: 60(3), P. 419 - 419

Published: Feb. 29, 2024

Background and Objectives: Respiratory distress syndrome (RDS) in preterm infants commonly occurs due to the immaturity-related deficiency of pulmonary surfactant. Beyond prematurity, various environmental genetic factors can influence onset progression RDS. This study aimed analyze three single-nucleotide polymorphisms (SNPs) ABCA3 gene assess as a candidate for susceptibility RDS overall survival newborns evaluate utility MLPA neonatal patients. Materials Methods: Three SNPs were chosen genotyped cohort 304 newborns. Data analysis statistical tests employed examine allele frequencies, haplotypes, measures pairwise linkage disequilibrium. Results: There was no observed haplotype association with rs13332514 (c.1059G>A) rs170447 (c.1741+33T>C) among newborns, both without (p > 0.05). The minor C frequency rs323043 (c.1755G>C) SNP showed significant increase results indicated that predominant findings normal, revealing CNVs genes SFTPC investigated our Conclusions: presence variant may be risk factor premature

Language: Английский

Citations

2
ABCA3 c.838C>T (p.Arg280Cys, R280C) and c.697C>T (p.Gln233Ter, Q233X, Q233*) as Causative Variants for RDS: a Review of the Literature and Family Case Study DOI Open Access
Maria Livia Ognean, Mădălina Anciuc-Crauciuc, Radu Galiș

et al.

Published: Aug. 20, 2024

Background. Respiratory distress syndrome (RDS) is the primary cause of respiratory failure in preterm infants, but it also affects 5-7% term infants. Dysfunctions pulmonary surfactant metabolism, resulting from mutations lung genes, are rare diseases, ranging fatal neonatal RDS to interstitial disease, associated with increased morbidity and mortality. This study aims clarify clinical significance ABCA3 variants found a specific family case, as existing data literature inconsistent. Material methods: A case report was conducted; targeted panel genetic testing identified variant SFTPB gene two genes. Comprehensive research involving systematic review PubMed, Google Scholar databases, genome browsers used pathogenicity index patient. Advanced prediction tools were employed assess variants, ensuring validity reliability our findings. Results: The exhibited RDS. Genetic revealed presence p.Val267Ile variant, not previously reported, benign based on history. Additionally, identified: c.697C>T, yet c.838C>T. These affect protein function likely Prediction nine other cases supported this conclusion. Conclusions: Based silico predictors, analysis presented family, described literature, reasonable consider reclassifying pathogenic/pathogenic. Reclassification will improve counseling accuracy facilitate correct diagnosis.

Language: Английский

Citations

1
Low Prognostic Nutritional Index (PNI) Level is Associated with an Increased Risk of Neonatal Respiratory Distress Syndrome in Preterm Infants with Different Gestational Ages: A Retrospective Study DOI Creative Commons

Liudan Huang,

Xuexin Chen, Yuhua Zhang

et al.

International Journal of General Medicine, Journal Year: 2024, Volume and Issue: Volume 17, P. 5219 - 5231

Published: Nov. 1, 2024

Neonatal respiratory distress syndrome (NRDS) is common in preterm infants. Prognostic nutritional index (PNI)((albumin (g/L)+(5×total lymphocyte count (10

Language: Английский

Citations

1
ABCA3 c.838C>T (p.Arg280Cys, R280C) and c.697C>T (p.Gln233Ter, Q233X, Q233*) as Causative Variants for RDS: A Family Case Study and Literature Review DOI Creative Commons
Maria Livia Ognean, Mădălina Anciuc-Crauciuc, Radu Galiș

et al.

Biomedicines, Journal Year: 2024, Volume and Issue: 12(10), P. 2390 - 2390

Published: Oct. 18, 2024

Respiratory distress syndrome (RDS) is the primary cause of respiratory failure in preterm infants, but it also affects 5-7% term infants. Dysfunctions pulmonary surfactant metabolism, resulting from mutations lung genes, are rare diseases, ranging fatal neonatal RDS to interstitial disease, associated with increased morbidity and mortality. This study aims clarify clinical significance ABCA3 variants found a specific family case, as existing data literature inconsistent.

Language: Английский

Citations

0