Circulating lncRNAs HOTTIP and HOTAIR as Potential Biomarkers in Crigler-Najjar Syndrome: A Preliminary Report from Shiraz Liver Transplant Research Center

Abstract

Crigler-Najjar syndrome (CNS) is a rare autosomal recessive disorder characterized by impaired bilirubin metabolism, leading to neurotoxic unconjugated bilirubin accumulation. Liver transplantation remains the only effective treatment, highlighting the need for novel diagnostic and therapeutic approaches. Long non-coding RNAs (lncRNAs) have emerged as potential biomarkers in various diseases, including cancer. This study aimed to evaluate the expression of lncRNAs HOTTIP and HOTAIR in CNS patients and healthy controls, exploring their potential as non-invasive diagnostic tools. Serum samples from CNS patients (n = 6) and healthy controls (n = 26) were analyzed using quantitative real-time polymerase chain reaction. While both lncRNAs showed decreased expression in CNS patients compared to controls, the differences were not statistically significant. However, receiver operating characteristic curve analysis revealed promising diagnostic performances for both lncRNAs. Correlations between lncRNA expression and clinical parameters were explored, revealing potential associations with disease progression. Overall, this study provides preliminary insights into the role of lncRNAs HOTTIP and HOTAIR in CNS and underscores the need for further research to validate their utility as biomarkers and therapeutic targets in this rare disorder.