The present study investigated the function of microRNA (miR)-106b in the proliferation, migration and invasion of retinoblastoma (RB) cells, and aimed to elucidate the underlying mechanism. A total of 56 patients with RB were enrolled in the present study. The expression of miR-106b in RB tissues was measured by reverse transcription quantitative polymerase chain reaction. After transfection with miR-106b mimics or miR-106b inhibitor, a Cell-Counting kit-8 assay was used to determine the proliferation of WERI-Rb-1 cells and a Transwell assay was employed to measure the migration and invasion of the cells. Western blot analysis was performed to determine the expression of zinc finger and BTB domain containing 4 (ZBTB4) protein. By silencing or overexpression of ZBTB4 protein, the biological functions of ZBTB4 in WERI-Rb-1 cells were studied. A dual luciferase reporter assay was performed to test whether ZBTB4 was a target gene of miR-106b. The expression of miR-106b in RB tissues was elevated and closely associated with the severity of the disease. Overexpression of miR-106b increased but inhibition of miR-106b expression decreased the proliferation, migration and invasion abilities of WERI-Rb-1 cells. In addition, overexpression of miR-106b decreased but inhibition of miR-106b expression increased ZBTB4 protein expression in WERI-Rb-1 cells. Similarly, overexpression of ZBTB4 reduced but inhibition of ZBTB4 expression promoted the proliferation, migration and invasion of WERI-Rb-1 cells. Finally, miR-106b regulated the expression of ZBTB4 by binding to the 3′-untranslated region of the ZBTB4 gene. The present study demonstrated that increased expression of miR-106b in RB tissues is positively associated with the metastasis and differentiation of RB cells. As an oncogene, miR-106b promotes the proliferation, migration and invasion of WERI-Rb-1 cells by inhibiting the expression of ZBTB4 protein.
BackgroundThe etiology of strabismus has a genetic component. Our study aimed to localize the candidate causative gene mutant in a Chinese family with strabismus and to describe its underlying etiology.Material/MethodsGenomic DNA was extracted from the affected individual and his parents in a Chinese pedigree with strabismus. The resulting exomes were sequenced by whole-exome sequencing. After variant calling and filtering, the candidate causative gene mutations were selected for the rarity and predicted damaging effect, which complied with the model of recessive disease transmission.ResultsWe examined a Chinese strabismus pedigree with the parents unaffected and 2 offspring affected. Whole-exome sequencing and bioinformatics filtering identified 2 variants including Abelson helper integration site 1 (AHI1) gene and nebulin (NEB) gene. The variant in the AHI1 gene, c.A3257G (p.E1086G), and the altered amino acid had a damaging effect on the encoded protein predicted by Polyphen2. Moreover, this change was located in the conserved SH3 domain of AHI1. Biallelic pathogenic variant in AHI1 gene can cause Joubert syndrome-related disorders with oculomotor apraxia characteristics. Additionally, c.A914G mutation was found in nebulin (NEB) gene. Therefore, we concluded that AHI1 c.3257A>G and NEB c.914 A>G were potential causal variants in this strabismus pedigree.ConclusionsWe detected an AHI1 homozygous mutation in the affected individual. Whole-exome sequencing is a powerful way to identify causally relevant genes, improving the understanding of this disorder.
Purpose: This study was designed to explore the application of femtosecond laser-assisted deep anterior lamellar keratoplasty (DALK) in the management of keratoconus. Methods: A total of 7 patients with keratoconus underwent femtosecond laser-assisted DALK. Femtosecond laser was performed to create corneal cuts on both donor and recipient. Average thinnest corneal thickness was measured with B-mode ultrasound and visual acuity was evaluated by logarithm visual chart. The follow-up endured for (8.9 ± 2.3) months on average, ranging from 12 to 50 months. Results: Corneal pachymetry was measured as (382 ± 44) m, ranging from 381 to 462 m. Mean uncorrected visual acuity (UCVA) was (0.06 ± 0.06) prior to surgery, ranging from 0.01 to 0.15 and mean preoperative best corrected visual acuity (BCVA) was 0.41 ± 0.35 (range: 0.12-1.00). Donor corneal lamellar diameter was measured as 0.22 mm larger compared with that of the recipient. Mean donor corneal lamellar diameter was (7.7 ± 0.3) mm and mean corneal thickness was (371 ± 38) m. A clear graft was noted in all cases after the surgery. Mean corneal thickness was (457 ± 33) m. During final follow-up, mean UCVA was significantly improved to (0.31 ± 0.15) and (0.59 ± 0.23) for mean BCVA. Conclusions: Femtosecond laser-assisted DALK is an efficient and safe treatment of keratoconus.
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