Detection of circulatory E. granulosus-derived cell-free DNA in the plasma and urine of human cystic echinococcosis using an in-house PCR: a potential promising diagnostic biomarker

• Published in: Molecular biology reports Vol. 51; no. 1; p. 452
• Main Authors: Habibi, Bentolhoda, Gholami, Shirzad, Bagheri, Abouzar, Fakhar, Mahdi, Torabi, Mahdi, Tabaripour, Rabeeh, Moradi, Alimohammad
• Format: Journal Article
• Language: English
• Published: Dordrecht Springer Netherlands 01.12.2024; Springer Nature B.V
• Subjects: Animal Anatomy; Animal Biochemistry; Animals; Biomarkers; Biomedical and Life Sciences; Cell-Free Nucleic Acids; Cysts; diagnostic techniques; DNA; Echinococcosis; Echinococcosis - diagnosis; Echinococcus - genetics; Enzyme-linked immunosorbent assay; genes; Histology; histopathology; Humans; immunologic techniques; Life Sciences; Morphology; Original Article; Parasitic diseases; Plasma; Polymerase Chain Reaction; Serology; Urine; Cell-free DNA; Cystic echinococcosis; Serology; PCR; Echinococcus granulosus
• ISSN: 0301-4851; 1573-4978; 1573-4978
• DOI: 10.1007/s11033-024-09385-w

Background The diagnostic tool for identifying cystic echinococcosis (CE) patients at an early stage is currently lacking. However, circulatory cell-free DNA (cfDNA) has shown potential as a biomarker for parasitic infections and could be used for diagnosing CE. Research Design and methods The plasma and urine samples were collected from 39 patients with confirmed CE through imaging and histopathological techniques. All plasma samples were tested for anti-echinococcal antibodies using a commercial ELISA test. Total plasma and urine cfDNA were extracted and an in-house PCR assay was developed to detect E. granulosus specific cfDNA in the samples of CE patients. Results Out of the 39 patients, 30 tested positive for E. granulosus using serology, with a sensitivity of 76.9%. Moreover, the detection rates for the cfDNA were 79.5% in plasma samples and 58.97% in urine samples using the 80 bp COX1 gene. The plasma-based PCR and serology test showed the highest agreement (Kappa = 0.53). Conclusions Plasma-based PCR has been found to be a reliable diagnostic tool for identifying CE patients at different cyst stages. It offers validity, speed, and sufficient sensitivity, making it an alternative to serology in diagnosing CE in endemic areas. Article highlights The circulatory E. granulosus cfDNA in the plasma could be considered as a promising diagnostic and prognostic biomarker. The plasma-based PCR and serology test showed the highest agreement. Plasma-based PCR could be used as a reliable diagnostic tool for identifying CE patients at different cyst stages.