Faculty of Life Sciences and Biotechnology, South Asian University, New Delhi, India.
Amity Institute of Biotechnology, Amity University, Noida, Uttar Pradesh, India.
J Cell Physiol. 2019 Aug;234(10):16703-16723. doi: 10.1002/jcp.28482. Epub 2019 Mar 25.
Chronic obstructive pulmonary disease accounts as the leading cause of mortality worldwide prominently affected by genetic and environmental factors. The disease is characterized by persistent coughing, breathlessness airways inflammation followed by a decrease in forced expiratory volume and exacerbations, which affect the quality of life. Determination of genetic, epigenetic, and oxidant biomarkers to evaluate the progression of disease has proved complicated and challenging. Approaches including exome sequencing, genome-wide association studies, linkage studies, and inheritance and segregation studies played a crucial role in the identification of genes, their pathways and variation in genes. This review highlights multiple approaches for biomarker and gene identification, which can be used for differential diagnosis along with the genome editing tools to study genes associated with the development of disease and models their function. Further, we have discussed the approaches to rectify the abnormal gene functioning of respiratory tissues and various novel gene editing techniques like Zinc finger nucleases (ZFN), transcription activator-like effector nucleases (TALEN), and clustered regulatory interspaced short palindromic repeats/CRISPR-associated protein 9 (CRISPR/Cas9).
慢性阻塞性肺疾病是全球主要的致死原因，主要受遗传和环境因素的影响。该疾病的特征为持续咳嗽、呼吸困难、气道炎症，随后出现用力呼气量减少和病情恶化，从而降低生活质量。为了评估疾病的进展，确定遗传、表观遗传和氧化剂生物标志物的方法被证明是复杂且具有挑战性的。外显子组测序、全基因组关联研究、连锁研究以及遗传和分离研究等方法在鉴定基因、基因途径和基因变异方面发挥了关键作用。本综述强调了多种生物标志物和基因鉴定方法，这些方法可用于鉴别诊断，同时还可利用基因组编辑工具研究与疾病发展相关的基因，并模拟其功能。此外，我们还讨论了纠正呼吸组织异常基因功能的方法以及各种新型基因编辑技术，如锌指核酸酶（ZFN）、转录激活因子样效应物核酸酶（TALEN）和簇状规则间隔短回文重复/CRISPR 相关蛋白 9（CRISPR/Cas9）。
