Long non-coding RNAs (lncRNAs) are a recently discovered group of non-coding RNAs that play a crucial role in the regulation of various human diseases, especially in the study of nervous system diseases which has garnered significant attention. However, there is limited knowledge on the identification and function of lncRNAs in hepatolenticular degeneration (HLD). The objective of this study was to identify novel lncRNAs and determine their involvement in the networks associated with HLD. We conducted a comprehensive analysis of RNA sequencing (RNA-seq) data, reverse transcription-quantitative polymerase chain reaction (RT-qPCR), and computational biology to identify novel lncRNAs and explore their potential mechanisms in HLD. We identified 212 differently expressed lncRNAs, with 98 upregulated and 114 downregulated. Additionally, 32 differently expressed mRNAs were found, with 15 upregulated and 17 downregulated. We obtained a total of 1131 pairs of co-expressed lncRNAs and mRNAs by Pearson correlation test and prediction and annotation of the lncRNA-targeted miRNA-mRNA network. The differential lncRNAs identified in this study were found to be involved in various biological functions and signaling pathways. These include translational initiation, motor learning, locomotors behavior, dioxygenase activity, integral component of postsynaptic membrane, neuroactive ligand-receptor interaction, nuclear factor-kappa B (NF-κB) signaling pathway, cholinergic synapse, sphingolipid signaling pathway, and Parkinson’s disease signaling pathway, as revealed by the Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analyses. Six lncRNAs, including XR_001782921.1 (P < 0.01), XR_ 001780581.1 (P < 0.01), ENSMUST_00000207119 (P < 0.01), XR_865512.2 (P < 0.01), TCONS_00005916 (P < 0.01), and TCONS_00020683 (P < 0.01), showed significant differences in expression levels between the model group and normal group by RT-qPCR. Among these, four lncRNAs (TCONS_00020683, XR_865512.2, XR_001780581.1, and ENSMUST00000207119) displayed a high degree of conservation. This study provides a unique perspective for the pathogenesis and therapy of HLD by constructing the lncRNA-miRNA-mRNA network. This insight provides a foundation for future exploration in this field.

长链非编码RNA（lncRNA）是最近发现的一类非编码RNA，在多种人类疾病的调控中发挥着至关重要的作用，特别是在神经系统疾病的研究中引起了人们的广泛关注。然而，对于肝豆状核变性（HLD）中 lncRNA 的识别和功能了解有限。本研究的目的是识别新型 lncRNA 并确定它们在与 HLD 相关的网络中的参与情况。我们对 RNA 测序 (RNA-seq) 数据、逆转录定量聚合酶链反应 (RT-qPCR) 和计算生物学进行了全面分析，以鉴定新型 lncRNA 并探索其在 HLD 中的潜在机制。我们鉴定了 212 种不同表达的 lncRNA，其中 98 种上调，114 种下调。此外，还发现了 32 个不同表达的 mRNA，其中 15 个上调，17 个下调。通过Pearson相关性检验以及lncRNA靶向的miRNA-mRNA网络的预测和注释，我们总共获得了1131对共表达的lncRNA和mRNA。本研究发现的差异lncRNA涉及多种生物学功能和信号通路。这些包括翻译启动、运动学习、运动行为、双加氧酶活性、突触后膜的组成部分、神经活性配体-受体相互作用、核因子-κB (NF-κB) 信号通路、胆碱能突触、鞘脂信号通路和帕金森病信号传导基因本体论 (GO) 和京都基因与基因组百科全书 (KEGG) 途径分析揭示了这一途径。 6个lncRNA，包括XR_001782921.1（ P <0.01）、XR_001780581.1（ P <0）。01）、ENSMUST_00000207119（ P < 0.01）、XR_865512.2（ P < 0.01）、TCONS_00005916（ P < 0.01）和TCONS_00020683（ P < 0.01），RT-RT-PCR显示模型组与正常组之间表达水平存在显着差异。定量PCR。其中，四种lncRNA（TCONS_00020683、XR_865512.2、XR_001780581.1和ENSMUST00000207119）表现出高度保守性。该研究通过构建lncRNA-miRNA-mRNA网络，为HLD的发病机制和治疗提供了独特的视角。这一见解为该领域的未来探索奠定了基础。