Third generation sequencing transforms the way of the screening and diagnosis of thalassemia: a mini-review.

Thalassemia is an inherited blood disorder imposing a significant social and economic burden. Comprehensive screening strategies are essential for the prevention and management of this disease. Third-generation sequencing (TGS), a breakthrough technology, has shown great potential for screening and diagnostic applications in various diseases, while its application in thalassemia detection is still in its infancy. This review aims to understand the latest and most widespread uses, advantages of TGS technologies, as well as the challenges and solutions associated with their incorporation into routine screening and diagnosis of thalassemia. Overall, TGS has exhibited higher rates of positive detection and diagnostic accuracy compared to conventional methods and next-generation sequencing technologies, indicating that TGS will be a feasible option for clinical laboratories conducting in-house thalassemia testing. The implementation of TGS technology in thalassemia diagnosis will facilitate the development of effective prevention and management strategies, thereby reducing the burden of this disease on individuals and society.

LncRNA NLIPMT Inhibits Tumorigenesis in Esophageal Squamous-Cell Carcinomas by Regulating miR-320/Survivin Axis.

BACKGROUND: LncRNA has been widely investigated for decades and plays critical roles in the progression of cancer. However, lncRNA NLIPMT, as a novel non-coding RNA, only was studied in breast cancer. This study aimed to explore the role of NLIPMT in esophageal squamous-cell carcinomas (ESCC). MATERIALS AND METHODS: NLIPMT, miR320 and survivin mRNA in ESCC tissues (or non-tumor tissue) were detected by qRT-PCR. Dual-luciferase reporter assay was performed to assess the relationship between miR-320 and survivin. In ESCC cell lines KYSE510 and ECA109, miR-320 mimic and expression vectors carrying NLIPMT and survivin were used. Cell cycle, apoptosis, proliferation and migration were detected by flow cytometry, CCK-8, transwell assay, respectively. NIPMT, miR-320 and survivin expression were measured by qRT-PCR and Western blotting. RESULTS: NLIPMT was downregulated in ESCC and predicted poor survival of ESCC patients. NLIPMT was positively correlated with miR-320 and negatively correlated with survivin in ESCC tumor tissues. Dual-luciferase reporter assay showed that miR-320 directly regulated survivin. qRT-PCR and Western blotting showed that NLIPMT promoted miR-320 expression and inhibited survivin expression via up-regulating miR-320. Moreover, both NLIPMT and miR-320 overexpression inhibited cell proliferation and migration and promoted cell cycle arrest and apoptosis in ESCC cells, while their effects were abolished by survivin overexpression. CONCLUSION: We demonstrate that NLIPMT inhibits cell proliferation and migration and promotes cell cycle arrest and apoptosis in ESCC cells by regulating the miR-320/survivin axis. NLIPMT may be a novel prognosis biomarker in ESCC patients.