Cerri Stefania, Manzini Elisa, Nori Ottavia, Pacchetti Lucia, Rossi Laura, Turchiano Maria Giulia, Samarelli Anna Valeria, Raineri Giulia, Andrisani Dario, Gozzi Filippo, Beghè Bianca, Clini Enrico, Tonelli Roberto
Respiratory Disease Unit, University Hospital of Modena, 41124 Modena, Italy.
Laboratory of Experimental Pneumology, Department of Surgical and Medical Science, University of Modena and Reggio Emilia, 41124 Modena, Italy.
Medicina (Kaunas). 2024 Nov 29;60(12):1967. doi: 10.3390/medicina60121967.
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.
遗传学和表观遗传学的最新进展为特发性和非特发性间质性肺病（ILD）的发病机制提供了重要见解。端粒相关基因和表面活性蛋白的突变与家族性肺纤维化有关，而MUC5B和TOLLIP基因的变异会增加患ILD的风险，包括特发性肺纤维化和类风湿关节炎相关的ILD。表观遗传机制，如DNA甲基化、组蛋白修饰以及miR-21和miR-29等非编码RNA，可调节纤维化途径，影响疾病的发生和进展。尽管目前尚无针对ILD的标准化基因检测方法，但了解基因突变和表观遗传改变之间的相互作用有助于开发个性化治疗方法。本综述重点介绍了驱动ILD的遗传和表观遗传因素，强调了它们在优化诊断和治疗方面的潜力。
