Zhang Xiaoan, Fan Ida X, Xu Yanjuan, Rule Jody, Tse Long Ping Victor, Pourkarim Mahmoud Reza, Lee William M, Di Bisceglie Adrian M, Fan Xiaofeng
Division of Gastroenterology & Hepatology, Department of Internal Medicine, Saint Louis University School of Medicine, St. Louis, MO 63104, USA.
The Third Affiliated Hospital of Zhengzhou University, Zhengzhou 450001, China.
Viruses. 2025 Jun 3;17(6):812. doi: 10.3390/v17060812.
Clinical studies indicate the etiology of liver disease to be unknown in 5% to 30% of patients. A long-standing hypothesis is the existence of unknown viruses beyond hepatitis A through E virus. We conducted serum virome sequencing in nine patients with cryptogenic liver disease and identified eight contigs that could not be annotated. One was determined to be a contaminant, while two of seven contigs from an individual (Patient 3) were validated by reverse transcription and polymerase chain reaction (RT-PCR) and Sanger sequencing. The possibility of contamination was completely excluded through PCR, with templates extracted using different methods from samples taken at different time points. One of the contigs, Seq260, was characterized as negative-sense single-stranded DNA via enzymatic digestion and genome walking. Digital-droplet PCR revealed the copy number of Seq260 to be low: 343 copies/mL. Seq260-based nested PCR screening was negative in 200 blood donors and 225 patients with liver disease with/without known etiologies. None of the seven contigs from Patient 3 was mapped onto 118,713 viral metagenomic data. Conclusively, we discovered seven unknown contigs from a patient with cryptogenic liver cirrhosis. These sequences are likely from a novel human virus with a negative-sense, linear single-stranded DNA genome.
临床研究表明,5%至30%的肝病患者病因不明。一个长期存在的假说是,除了甲型肝炎病毒至戊型肝炎病毒之外,还存在未知病毒。我们对9例隐源性肝病患者进行了血清病毒组测序,鉴定出8个无法注释的重叠群。其中一个被确定为污染物,而来自一名个体(患者3)的7个重叠群中的两个通过逆转录和聚合酶链反应(RT-PCR)以及桑格测序得到了验证。通过PCR完全排除了污染的可能性,使用不同方法从不同时间点采集的样本中提取模板。其中一个重叠群Seq260通过酶切和基因组步移被鉴定为负链单链DNA。数字液滴PCR显示Seq260的拷贝数较低:343拷贝/毫升。基于Seq260的巢式PCR筛查在200名献血者以及225例有/无已知病因的肝病患者中均为阴性。患者3的7个重叠群均未映射到118,713个病毒宏基因组数据上。最终,我们从一名隐源性肝硬化患者中发现了7个未知重叠群。这些序列可能来自一种新型人类病毒,其基因组为负链、线性单链DNA。