Sirtuins, which comprise a family of NAD+-dependent deacetylases, have emerged as critical regulators in the pathogenesis of pulmonary diseases because of their pleiotropic roles in oxidative stress, metabolic homeostasis and inflammation. Growing evidence indicates that sirtuins modulate key cellular processes, including mitochondrial function, cell survival and death pathways, via protein deacetylation, thereby influencing disease progression in chronic obstructive pulmonary disease, pulmonary fibrosis and lung cancer. Notably, dysregulated sirtuin expression and activity are implicated in various lung pathologies, highlighting their dual potential as diagnostic biomarkers and therapeutic targets. The present review synthesized recent advances in sirtuin research, focusing on molecular mechanisms and translational applications, to provide a foundation for developing novel strategies for lung disease prevention and treatment. A comprehensive literature review of the relationship between sirtuins and lung-related diseases was conducted. Literature published in PubMed and Web of Science up to May 2025 was searched using the keywords 'sirtuin,' 'SIRTs,' 'lung disease,' and 'pulmonary disease.'
Shuangyun Xi, Weijun Chen, Xiu-Li Li et al.· International Journal of Mol...· 0 citations
Pediatric seizure disorders are clinically and genetically heterogeneous. Whole-exome sequencing has improved the detection of rare genetic variants in childhood epilepsy; however, data from pediatric populations in Southeast China remain limited. This study aimed to characterize the genetic landscape of pediatric seizure disorders in Southeast China and to evaluate the clinical diagnostic yield of whole-exome sequencing.
This retrospective observational study included 21 pediatric patients with seizure disorders who were recruited at the Fifth Hospital of Xiamen, Fujian, China, between January 2021 and June 2024. Clinical data were extracted from medical records. Whole-exome sequencing was performed on DNA extracted from peripheral blood. Sequence variants were annotated, filtered, and classified according to the guidelines of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Copy-number variants were evaluated using exome-based algorithms. Descriptive statistics were used because of the limited sample size.
WES identified three clinically relevant, likely pathogenic findings in 3 of 21 patients, corresponding to a provisional diagnostic yield of 14.3%. The remaining 62 of 65 variants were of uncertain significance (VUS). The three retained variants included a GLI3 frameshift variant (exon 2: c.90_91insCAGATGTGAGC; p.Glu31Glnfs*3) and two copy-number variants (16p13.12-16p13.11 duplication and Xp22.31 deletion) with established clinical significance. Functional analysis of all 65 variants revealed that ion channel genes and neurodevelopmental genes were the most frequently affected categories.
Whole-exome sequencing identified clinically relevant genetic findings in a subset of Southeast Chinese children with seizure disorders. The novel GLI3 frameshift variant may suggest an expansion of the GLI3-associated phenotypic spectrum, but further segregation, functional validation, and larger cohort studies are needed. The high proportion of variants of uncertain significance highlights the ongoing challenges of genetic interpretation in pediatric seizure disorders.
Shan Hong, Dandan Han, Ming Qi et al.· Annals of Medicine & Sur...· 0 citations
We use cookies to run the site and, with your consent, for analytics and to show ads.
See our Cookie Policy.
