RESUMEN
To investigate the role of the lncRNA growth arrest special 5 (GAS5) in ovarian clear cell carcinoma (OCCC), we measured the expression of GAS5 and miR-31-5p in OCCC tissue samples and OCCC cell lines using RT-qPCR. MTT and colony formation assays were used to measure cell viability and colony formation ability. Cell invasion was determined by Transwell assays. The binding between GAS5 and miR-31-5p as well as miR-31-5p and ARID1A was determined by dual-luciferase reporter assays. The ARID1A protein levels were detected using western blotting. Kaplan-Meier curves were used for the analysis of the 5-year survival rate of patients with OCCC. GAS5 and ARID1A levels were significantly decreased, while miR-31-5p levels were strongly elevated in the OCCC tissues and cell lines. Patients with lower GAS5/ARID1A levels had shorter overall survival times. Overexpression of GAS5 or inhibition of miR-31-5p suppressed cell viability and invasion of OCCC cells and upregulated the protein levels of ARID1A. Moreover, overexpression of miR-31-5p reversed the effects of overexpression of GAS5. Cotransfection with pcDNA3.1-GAS5 and miR-31-5p inhibitor led to the lowest cell viability and cell invasion rates. A dual-luciferase reporter assay was performed to confirm the target relationship between GAS5 and miR-31-5p, as well as between miR-31-5p and ARID1A. LncRNA GAS5 inhibited cell viability and invasion of OCCC through activation of ARID1A by sponging miR-31-5p.
Asunto(s)
Adenocarcinoma de Células Claras/genética , Proteínas de Unión al ADN/genética , MicroARNs/genética , Neoplasias Ováricas/genética , ARN Largo no Codificante/genética , Factores de Transcripción/genética , Adenocarcinoma de Células Claras/metabolismo , Adenocarcinoma de Células Claras/mortalidad , Adenocarcinoma de Células Claras/patología , Adulto , Anciano , Emparejamiento Base , Secuencia de Bases , Línea Celular Tumoral , Movimiento Celular , Proliferación Celular , Proteínas de Unión al ADN/metabolismo , Femenino , Regulación Neoplásica de la Expresión Génica , Genes Reporteros , Humanos , Estimación de Kaplan-Meier , Luciferasas/genética , Luciferasas/metabolismo , MicroARNs/metabolismo , Persona de Mediana Edad , Invasividad Neoplásica , Estadificación de Neoplasias , Neoplasias Ováricas/metabolismo , Neoplasias Ováricas/mortalidad , Neoplasias Ováricas/patología , ARN Largo no Codificante/metabolismo , Transducción de Señal , Factores de Transcripción/metabolismoRESUMEN
BACKGROUND: Androgen insensitivity syndrome is an X-linked recessive genetic disease caused by mutations in the androgen receptor gene (AR). However, the underlying molecular mechanisms for the majority of AR variants remain unclear. In this study, we identified a point variant in three patients with complete androgen insensitivity syndrome (CAIS), summarized the correlation analysis, and performed a literature review. CASE SUMMARY: The proband was raised as a girl. In infancy, she was first referred to hospital with a right inguinal hernia. Ultrasonography revealed the absence of a uterus and ovaries, and a testis-like structure located at the inguinal canal. Further diagnostic workup detected a 46, XY karyotype, and fluorescence in situ hybridization analysis showed the presence of the SRY gene. Histological analysis revealed the excised tissue to be testicular. Twelve years later, she was admitted to our hospital with a lack of breast development. Her pubic hair and breasts were Tanner stage I. She had normal female external genitalia. Blood hormone tests showed normal testosterone levels, low estradiol levels, and high gonadotropin levels. Her two siblings underwent similar examinations, and all three had a rare hemizygous missense mutation in AR: c.2678C>T. In vitro functional analyses revealed decreased nuclear translocation in AR-c.2678C>T mutation cells. CONCLUSION: This case of CAIS was caused by an AR variant (c.2678C>T). Functional studies showed impaired nuclear translocation ability of the mutant protein.
RESUMEN
OBJECTIVE: To explore the expression of IL-10 and IL-17 in endometrial cancer and their relationships with tumor progression. METHODS: The sera levels of IL-10 and IL-17 were detected by enzyme-linked immune-sorbent assay in 15 benign hysterectomies and 15 endometrial cancers, the expressions of IL-10 and IL-17 in the tissue were measured by immunohistochemistry assay (SABC) with the evaluation of IOD value, clinic-pathological characteristics were retrieved and analyzed. RESULTS: Both sera expression and tissue IOD value of IL-10 were significantly higher in endometrial cancer than those in benign uterine, while no difference was found in IL-17 between the two groups. Sera IL-10 of I B-II stage, G2-G3, with myoinvasion, with vas tumor emboli was higher than that of I A stage, G1, without myoinvasion, and without vas tumor emboli, while no difference was found among tissue types. Sera IL-17 of I B-II stage, with myoinvasion, with vas tumor emboli was lower than that of IA stage, without myoinvasion, and without vas tumor emboli, while no difference was found among tumor grades nor tissue types. CONCLUSION: High expression of IL-10 may participate in the genesis and development of uterine endometrial cancer, while low expression of IL-17 may participate in its development.
