Genotypic Analysis of <i>COL4A1</i> Gene in Diabetic Nephropathy and Type 2 Diabetes Mellitus Patients: A Comparative Genetic Study

Shukla, Neha; Kumari, Shivani; Verma, Poornima; Kushwah, Atar Singh; Banarjee, Monisha; Sankhwar, Satya Narayan; Srivastava, Aneesh; Ansari, M.S.; Gautam, Naveen Kumar

doi:10.1089/dna.2023.0125

Cited by 2 publications

(1 citation statement)

References 35 publications

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“…Reliable biomarkers such as increased urine TGF-β1 and connective tissue growth factor (CTGF) levels have been seen in individuals with progressive renal diseases and can serve as indicators of renal fibrosis [77,78]. Increased urinary excretion of type IV collagen is associated with glomerular ECM accumulation, and this has been demonstrated in animal studies and in patients with IgA nephropathy and diabetic kidney nephropathy with deteriorating renal capability [79,80]. Urinary and serum markers of collagen type III turnover have been associated with CDK progression and fibrosis [80][81][82].…”

Section: Biomarkers Of Kidney Fibrosismentioning

confidence: 99%

Fibrosis in Chronic Kidney Disease: Pathophysiology and Therapeutic Targets

Reiss,

Jacob,

Zubair

et al. 2024

JCM

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Chronic kidney disease (CKD) is a slowly progressive condition characterized by decreased kidney function, tubular injury, oxidative stress, and inflammation. CKD is a leading global health burden that is asymptomatic in early stages but can ultimately cause kidney failure. Its etiology is complex and involves dysregulated signaling pathways that lead to fibrosis. Transforming growth factor (TGF)-β is a central mediator in promoting transdifferentiation of polarized renal tubular epithelial cells into mesenchymal cells, resulting in irreversible kidney injury. While current therapies are limited, the search for more effective diagnostic and treatment modalities is intensive. Although biopsy with histology is the most accurate method of diagnosis and staging, imaging techniques such as diffusion-weighted magnetic resonance imaging and shear wave elastography ultrasound are less invasive ways to stage fibrosis. Current therapies such as renin-angiotensin blockers, mineralocorticoid receptor antagonists, and sodium/glucose cotransporter 2 inhibitors aim to delay progression. Newer antifibrotic agents that suppress the downstream inflammatory mediators involved in the fibrotic process are in clinical trials, and potential therapeutic targets that interfere with TGF-β signaling are being explored. Small interfering RNAs and stem cell-based therapeutics are also being evaluated. Further research and clinical studies are necessary in order to avoid dialysis and kidney transplantation.

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Section: Biomarkers Of Kidney Fibrosismentioning

confidence: 99%

Fibrosis in Chronic Kidney Disease: Pathophysiology and Therapeutic Targets

Reiss,

Jacob,

Zubair

et al. 2024

JCM

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Identification of key genes and biological pathways in chronic obstructive pulmonary disease using bioinformatics and next generation sequencing data analysis

Vastrad,

Vastrad

2024

Preprint

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Identification of accurate biomarkers is still particularly urgent for improving the poor survival of chronic obstructive pulmonary disease (COPD) patients. In this investigation, we aimed to identity the potential biomarkers in COPD via bioinformatics and next generation sequencing (NGS) data analysis. In this investigation, the differentially expressed genes (DEGs) in COPD were identified using NGS dataset (GSE239897) from Gene Expression Omnibus (GEO) database. Subsequently, gene ontology (GO) and pathway enrichment analysis was conducted to evaluate the underlying molecular mechanisms involved in progression of COPD. Protein-protein interaction (PPI), modules, miRNA-hub gene regulatory network and TF-hub gene regulatory network analysis were performed to determine the hub genes, miRNAs and TFs. The receiver operating characteristic (ROC) analysis was performed to determine the diagnostic value of hub genes. A total of 956 overlapping DEGs (478 up regulated and 478 down regulated genes) were identified in the NGS dataset. DEGs were mainly associated with GO functional terms and pathways in cellular response to stimulus. response to stimulus, immune system and neutrophil degranulation. There were 10 hub genes (MYC, LMNA, VCAM1, MAPK6, DDX3X, SHMT2, PHGDH, S100A9, FKBP5 and RPS6KA2) identified by PPI, modules, miRNA-hub gene regulatory network and TF-hub gene regulatory network analysis. In conclusion, the DEGs, relative GO terms, pathways and hub genes identified in the present investigation might aid in understanding of the molecular mechanisms underlying COPD progression and provide potential molecular targets and biomarkers for COPD.

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Genotypic Analysis of COL4A1 Gene in Diabetic Nephropathy and Type 2 Diabetes Mellitus Patients: A Comparative Genetic Study

Cited by 2 publications

References 35 publications

Fibrosis in Chronic Kidney Disease: Pathophysiology and Therapeutic Targets

Fibrosis in Chronic Kidney Disease: Pathophysiology and Therapeutic Targets

Identification of key genes and biological pathways in chronic obstructive pulmonary disease using bioinformatics and next generation sequencing data analysis

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