Stefania Cerri, Elisa Manzini, Ottavia Nori, Lucia Pacchetti, Laura Rossi, Maria Giulia Turchiano, Anna Valeria Samarelli, Giulia Raineri, Dario Andrisani, Filippo Gozzi, Bianca Beghè, Enrico Clini, Roberto Tonelli
{"title":"Genetic Risk Factors in Idiopathic and Non-Idiopathic Interstitial Lung Disease: Similarities and Differences.","authors":"Stefania Cerri, Elisa Manzini, Ottavia Nori, Lucia Pacchetti, Laura Rossi, Maria Giulia Turchiano, Anna Valeria Samarelli, Giulia Raineri, Dario Andrisani, Filippo Gozzi, Bianca Beghè, Enrico Clini, Roberto Tonelli","doi":"10.3390/medicina60121967","DOIUrl":null,"url":null,"abstract":"<p><p>Recent advances in genetics and epigenetics have provided critical insights into the pathogenesis of both idiopathic and non-idiopathic interstitial lung diseases (ILDs). Mutations in telomere-related genes and surfactant proteins have been linked to familial pulmonary fibrosis, while variants in MUC5B and TOLLIP increase the risk of ILD, including idiopathic pulmonary fibrosis and rheumatoid arthritis-associated ILD. Epigenetic mechanisms, such as DNA methylation, histone modifications, and non-coding RNAs such as miR-21 and miR-29, regulate fibrotic pathways, influencing disease onset and progression. Although no standardized genetic panel for ILD exists, understanding the interplay of genetic mutations and epigenetic alterations could aid in the development of personalized therapeutic approaches. This review highlights the genetic and epigenetic factors driving ILD, emphasizing their potential for refining diagnosis and treatment.</p>","PeriodicalId":49830,"journal":{"name":"Medicina-Lithuania","volume":"60 12","pages":""},"PeriodicalIF":2.4000,"publicationDate":"2024-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11677115/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Medicina-Lithuania","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3390/medicina60121967","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
引用次数: 0
Abstract
Recent advances in genetics and epigenetics have provided critical insights into the pathogenesis of both idiopathic and non-idiopathic interstitial lung diseases (ILDs). Mutations in telomere-related genes and surfactant proteins have been linked to familial pulmonary fibrosis, while variants in MUC5B and TOLLIP increase the risk of ILD, including idiopathic pulmonary fibrosis and rheumatoid arthritis-associated ILD. Epigenetic mechanisms, such as DNA methylation, histone modifications, and non-coding RNAs such as miR-21 and miR-29, regulate fibrotic pathways, influencing disease onset and progression. Although no standardized genetic panel for ILD exists, understanding the interplay of genetic mutations and epigenetic alterations could aid in the development of personalized therapeutic approaches. This review highlights the genetic and epigenetic factors driving ILD, emphasizing their potential for refining diagnosis and treatment.
期刊介绍:
The journal’s main focus is on reviews as well as clinical and experimental investigations. The journal aims to advance knowledge related to problems in medicine in developing countries as well as developed economies, to disseminate research on global health, and to promote and foster prevention and treatment of diseases worldwide. MEDICINA publications cater to clinicians, diagnosticians and researchers, and serve as a forum to discuss the current status of health-related matters and their impact on a global and local scale.