Ultra-rare biallelic pathogenic variants in geranylgeranyl diphosphate synthase 1 (GGPS1) have recently been associated with muscular dystrophy/hearing loss/ ovarian insufficiency syndrome. Here, we describe 11 affected individuals from four unpublished families with ultra-rare missense variants in GGPS1 and provide follow-up details from a previously reported family. Our cohort replicated most of the previously described clinical features of GGPS1 deficiency; however, hearing loss was present in only 46% of the individuals. This report consolidates the disease-causing role of biallelic variants in GGPS1 and demonstrates that hearing loss and ovarian insufficiency might be a variable feature of the GGPS1-associated muscular dystrophy.
Objective: Ovarian cancer is one of the most common gynaecological malignancies among females worldwide. Early diagnostic of ovarian cancer is challenging, and miRNAs could serve as a potential biomarker for early detection of ovarian cancer regarding easy to detect. The present study investigated the expression profile of miRNA-34a, miRNA-143, miRNA-212, Sox4, BCL-2, and E2f5 in the serum of participants to find new biomarkers for early diagnosis of ovarian cancer. Materials and Methods: Five milliliters of whole blood were collected from each patient (n=30) and control (n=30), and total RNA was extracted using Ambion™ TRIzol™ Reagent. Real-time PCR methods evaluated the expression of targeted miRNAs and their targeted genes. Result: The Disease status of all ovarian cancer patients were classified as FIGO stage III (21) and (IV 9) according to imaging studies and surgical pathological findings. Our results showed that expression levels of miRNA-34a (p<0.0001), miRNA-143 (p=0.028), and miRNA-212 (p<0.0001) were significantly decreased in patients with ovarian cancer compared to controls and expression levels of Sox4(p<0.0001), BCL-2(p<0.0001) and E2f5(p<0.0001) were significantly increased in patients with ovarian cancer compared to controls. In addition, Receiver Operating Characteristic (ROC) curve revealed that the expression profile of miRNA-34a (AUC= 0.82; P <0.0001), miRNA-143 (AUC= 0.66; P = 0.026) and miRNA-212 (AUC= 0.78; P = 0.0001) could be used as potential biomarker for discriminating patients with ovarian cancer. Conclusion: In conclusion, our data showed that the expression profile of miRNA-34a, miRNA-143, and miRNA-212 could act as a potential biomarker for diagnosing ovarian cancer patients.
Objective Ovarian cancer is one of the most common gynaecological malignancies among females worldwide. Early diagnostic of ovarian cancer is challenging, and miRNAs could serve as a potential biomarker for early detection of ovarian cancer regarding easy to detect. The present study investigated the expression profile of miRNA-34a, miRNA-143, miRNA-212, Sox4, BCL-2, and E2f5 in the serum of participants to find new biomarkers for early diagnosis of ovarian cancer. Materials and Methods Five milliliters of whole blood were collected from each patient (n = 30) and control (n = 30), and total RNA was extracted using Ambion™ TRIzol™ Reagent. Real-time PCR methods evaluated the expression of targeted miRNAs and their targeted genes. Result The Disease status of all ovarian cancer patients were classified as FIGO stage III (21) and (IV 9) according to imaging studies and surgical pathological findings. Our results showed that expression levels of miRNA-34a (p < 0.0001), miRNA-143 (p = 0.028), and miRNA-212 (p < 0.0001) were significantly decreased in patients with ovarian cancer compared to controls and expression levels of Sox4(p < 0.0001), BCL-2(p < 0.0001) and E2f5(p < 0.0001) were significantly increased in patients with ovarian cancer compared to controls. In addition, Receiver Operating Characteristic (ROC) curve revealed that the expression profile of miRNA-34a (AUC = 0.82; P < 0.0001), miRNA-143 (AUC = 0.66; P = 0.026) and miRNA-212 (AUC = 0.78; P = 0.0001) could be used as potential biomarker for discriminating patients with ovarian cancer. Conclusion In conclusion, our data showed that the expression profile of miRNA-34a, miRNA-143, and miRNA-212 could act as a potential biomarker for diagnosing ovarian cancer patients.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.