title: Genetic susceptibility to neonatal lung diseases.
abstract: Advances in molecular genetics have enabled improvement of knowledge in pathogenesis and diagnosis of either monogenic or multifactorial neonatal lung diseases. Variants in genes regulating surfactant function and metabolism are implicated in some rare and common respiratory diseases. Congenital surfactant deficiencies are rare diseases due to mutations in genes encoding surfactant proteins and cause significant and often lethal respiratory failure in newborns and interstitial lung disease in older children. Diagnosis is made by molecular analysis and eventually confirmed by histological analysis of lung tissue. A multifactorial contribution, resulting from interaction between multiple genes and environmental factors, has been supposed for respiratory distress syndrome (RDS) and bronchopulmonary dysplasia (BPD). Several potential candidate genes, especially regarding surfactant proteins and cytokines, have been shown in association with these diseases. Genetic variants predisposing to RDS or BPD are usually polymorphisms which are not causative, but can increase susceptibility to the disease. Identification of infants at risk of disease can be useful to provide them individualized therapies. (www.actabiomedica.it).
authors.affiliation: Unità di Genomica per la Diagnostica delle Patologie Umane, Centro di Genomica Traslazionale e Bioinformatica, Istituto Scientifico San Raffaele, Milano. masomaschini@gmail.com
authors.forename: Marco
authors.initials: M
authors.lastname: Somaschini
authors.forename: Emanuela
authors.initials: E
authors.lastname: Castiglioni
authors.forename: Silvia
authors.initials: S
authors.lastname: Presi
authors.forename: Chiara
authors.initials: C
authors.lastname: Volonteri
authors.forename: Maurizio
authors.initials: M
authors.lastname: Ferrari
authors.forename: Paola
authors.initials: P
authors.lastname: Carrera
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D001997:Bronchopulmonary Dysplasia / Q000453:epidemiology / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics*; D051549:Glutathione S-Transferase pi / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D053513:Matrix Metalloproteinase 16 / Q000235:genetics; D007703:Peptidyl-Dipeptidase A / Q000235:genetics; D011509:Proteoglycans / Q000235:genetics; D037701:Pulmonary Surfactant-Associated Protein B / Q000235:genetics; D037721:Pulmonary Surfactant-Associated Protein C / Q000235:genetics; D012127:Respiratory Distress Syndrome, Newborn / Q000453:epidemiology / Q000235:genetics*; D012307:Risk Factors; D051198:Toll-Like Receptor 5 / Q000235:genetics; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics; D042461:Vascular Endothelial Growth Factor A / Q000235:genetics
chemical_list: C441524:ABCA3 protein, human; D018528:ATP-Binding Cassette Transporters; C507102:MMP16 protein, human; D011509:Proteoglycans; D037701:Pulmonary Surfactant-Associated Protein B; D037721:Pulmonary Surfactant-Associated Protein C; C504404:SPOCK2 protein, human; C495346:TLR5 protein, human; D051198:Toll-Like Receptor 5; D014409:Tumor Necrosis Factor-alpha; C467484:VEGFA protein, human; D042461:Vascular Endothelial Growth Factor A; C496556:GSTP1 protein, human; D051549:Glutathione S-Transferase pi; C488034:ACE protein, human; D007703:Peptidyl-Dipeptidase A; D053513:Matrix Metalloproteinase 16