4.7 Review

Identification of biomarkers and genetic approaches toward chronic obstructive pulmonary disease

Journal

JOURNAL OF CELLULAR PHYSIOLOGY
Volume 234, Issue 10, Pages 16703-16723

Publisher

WILEY
DOI: 10.1002/jcp.28482

Keywords

biomarkers; cellular therapy; chronic obstructive pulmonary disease; CRISPR; Cas-9; genome editing; oxidative stress

Funding

  1. National Health Medical Research Council, NHMRC [1079187]

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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(1) 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).

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