Frequent DYSF rare variants/mutations in 152 Han Chinese samples with ovarian endometriosis.

PURPOSE: Endometriosis is a common chronic gynecological disease greatly affecting women health. Prior studies have implicated that dysferlin (DYSF) aberration might be involved in the pathogenesis of ovarian endometriosis. In the present study, we explore the potential presence of DYSF mutations in a total of 152 Han Chinese samples with ovarian endometriosis. METHODS: We analyze the potential presence of DYSF mutations by direct DNA sequencing. RESULTS: A total of seven rare variants/mutations in the DYSF gene in 10 out of 152 samples (6.6%) were identified, including 5 rare variants and 2 novel mutations. For the 5 rare variants, p.R334W and p.G941S existed in 2 samples, p.R865W, p.R1173H and p.G1531S existed in single sample, respectively; for the two novel mutations, p.W352* and p.I1642F, they were identified in three patients. These rare variants/mutations were absent or existed at extremely low frequency either in our 1006 local control women without endometriosis, or in the China Metabolic Analytics Project (ChinaMAP) and Genome Aggregation Database (gnomAD) databases. Evolutionary conservation analysis results suggested that all of these rare variants/mutations were evolutionarily conserved among 11 vertebrate species from Human to Fox. Furthermore, in silico analysis results suggested these rare variants/mutations were disease-causing. Nevertheless, we find no significant association between DYSF rare variants/mutations and the clinical features in our patients. To our knowledge, this is the first report revealing frequent DYSF mutations in ovarian endometriosis. CONCLUSION: We identified a high frequency of DYSF rare variants/mutations in ovarian endometriosis for the first time. This study suggests a new correlation between DYSF rare variants/mutations and ovarian endometriosis, implicating DYSF rare variants/mutations might be positively involved in the pathogenesis of ovarian endometriosis.

Down-regulated serum microRNA-101 is associated with aggressive progression and poor prognosis of cervical cancer.

OBJECTIVE: MicroRNAs (miRNAs) play a vital role in pathogenesis and progression of many cancers, including cervical cancer. However, importance of serum level of miR-101 in cervical cancer has rarely been studied. In the present study, clinical significance and prognostic value of serum miR-101 for cervical cancer was investigated. METHODS: Association between miR-101 level in cervical cancer tissues and prognosis of patients was analyzed by using data retrieved from The Cancer Genome Atlas (TCGA) database, which was followed with our clinical study in which miR-101 serum level comparison between cervical cancer patients and healthy controls was conducted by real-time quantitative polymerase chain reaction (PCR). RESULTS: TCGA database demonstrated that miR-101 was down-regulated in cervical cancer tissues compared with normal cervical tissues, and univariate Cox regression analysis indicated that decreased miR-101 expression was a highly significant negative risk factor. Similar trend was found in the serum miR-101. Serum level of miR-101 was associated with International Federation of Gynecology and Obstetrics (FIGO) stage (p=0.003), lymph node metastasis (p=0.001), and serum squamous cell carcinoma antigen (SCC-Ag) level >4 (p=0.007). The overall survival time of cervical cancer patients with a higher level of serum miR-101 was significantly longer than that of patients with a lower level of serum miR-101. Moreover, multivariate Cox regression analysis indicated that the down-regulated serum level of miR-101 was an independent predictor for the unfavorable prognosis of cervical cancer. CONCLUSION: Serum level of miR-101 is closely associated with metastasis and prognosis of cervical cancer; and, hence could be a potential biomarker and prognostic predictor for cervical cancer.

[Effects of erigeron injection on renal interstitial fibrosis in rats].

OBJECTIVE: To investigate the effect and mechanism of Erigeron Injection (EI) on renal interstitial fibrosis in rats. METHODS: Unilateral ureteral obstruction (UUO) model rats were taken as the subject of study. Thirty-six Sprague-Dawley rats were randomly divided into the control group (A), the UUO model group (B) and the treatment group (C) treated with intraperitoneal injection of EI 5 mL/kg per day from 24 h before to 9 days after the operation. On the 10th day of UUO, rats were killed and their kidneys were processed to paraffin sections with HE, PAS and picro-sirius-red staining. The pathological change of renal tubular interstitial tissue and relative cortical/interstitial volume (C/I) as well as the relative content of collagen (RC) were observed by light microscope. The expression of transforming growth factor beta1 (TGF-beta1), alpha-smooth muscle actin (alpha-SMA) and collagen I in the renal mesenchyma were examined by immunohistochemistry. RESULTS: Marked renal interstitial fibrosis changes were found in Group B and C, but the changes were milder in Group C. C/I and RC were higher in Groups B and C as compared with those in Group A (P < 0.01), but they were much lower in Group C than in Group B (P < 0.01). The expression of TGF-beta1, alpha-SMA and collagen I were higher in Group B and C than those in Group A (P < 0.05), but they were lower in Group C than in Group B (P < 0.05). CONCLUSION: EI could ameliorate renal interstitial fibrosis in rats, which might be partially realized by down-regulating the expression of TGF-beta1 to prevent the renal epithelial cell differentiation and reducing the synthesis of collagen I.