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Not all ovarian cancer patients with homologous recombination deficiency, especially those with germline BRCA mutations, can benefit from platinum-based and targeted therapy. Our study aimed to determine the value of nonsense-mediated mRNA decay, which targeted these mutations. The retrospective analysis of 797 ovarian cancer patients was performed using two public cohorts and one in-house cohort. We developed a prediction algorithm for nonsense-mediated mRNA decay to discriminate between trigger and escape status, finding that escape status indicated a better prognosis. Subsequently, we analyzed differential gene expression and functional pathways between the two statuses and filtered 8 genes associated with the cell cycle. Then the optimized key gene model was built using integrated machine learning algorithms (mean AUC > 0.89), which had a higher independent prognostic value for ovarian cancer with germline BRCA variants or homologous recombination deficiency than the nonsense-mediated mRNA decay algorithm. Furthermore, we classified patients into high- and low-risk groups by the machine learning model and found that the low-risk group had a better prognosis with higher drug response and immune levels of activated dendritic cells than the high-risk controls. Our findings provide a perspective based on nonsense-mediated mRNA decay and cell cycle pathways to distinguish subtypes of germline BRCA or homologous recombination deficiency.
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http://dx.doi.org/10.1111/cas.70034 | DOI Listing |
Front Genet
August 2025
Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Catholic University of the Sacred Heart, Milan, Italy.
Neutral Lipid Storage Disease with Myopathy (NLSDM) is a rare lipid metabolism disorder caused by impaired Adipose Triglyceride Lipase (ATGL) activity, leading to neutral lipid accumulation in various tissues. It typically manifests with progressive skeletal myopathy, with an onset of around 35 years. In addition, some patients develop cardiomyopathy and liver dysfunction.
View Article and Find Full Text PDFNAR Mol Med
April 2025
Tumor Vaccine and Biotechnology Branch, Division of Cellular Therapy 2, Office of Cellular Therapy and Human Tissue, Center for Biologics Evaluation and Research, U.S. Food and Drug Administration, Silver Spring, MD 20993, United States.
Changes in global climate have contributed to increased tick and mosquito (vector) populations and subsequent vector-borne flavivirus infections in humans. This increase poses a threat to the safety of human-derived biologics such as cell and gene therapy. We conducted time-course transcriptomic and protein analyses to uncover host molecular factors driving the virulence of Zika virus (ZIKV) and Dengue virus (DENV) in relation to host defense mechanisms, as these viruses have caused recent flavivirus outbreaks.
View Article and Find Full Text PDFbioRxiv
August 2025
Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School Boston, MA, USA.
N6-methyladenosine (m6A) is the most prevalent internal mRNA modification, enriched in the CNS yet poorly characterized in glioma. Using long-read RNA sequencing, we mapped m6A in an glioma model following knockdown (KD) of the reader IGF2BP2, writer METTL3, and eraser ALKBH5, with naive glioma cells and astrocytes as controls. Glioma cells exhibited a two-fold reduction in global m6A, suggesting progressive loss from healthy to malignant states.
View Article and Find Full Text PDFmedRxiv
August 2025
Departments of Molecular Biosciences and Oncology, University of Texas at Austin, Austin, TX 78712.
Previous TGIRT-seq analysis of RNAs in Inflammatory Breast Cancer (IBC) patient tumors, peripheral blood mononuclear cells (PBMCs) and plasma identified a short T-cell receptor mRNA fragment () as a potential IBC biomarker that was detected in plasma samples from IBC patients but not patients with non-inflammatory breast cancer or healthy donors. Here, we traced the origin of this RNA fragment to IBC patient PBMCs and used a high-throughput RT-PCR/Cas12a assay with larger numbers of samples to confirm its prevalence in IBC patient PBMCs. Detection of this RNA was enhanced by T4 polynucleotide kinase treatment, indicating the presence of a 2',3'-cyclic phosphate.
View Article and Find Full Text PDFSci Rep
September 2025
Department of Medical Genetics and Antenatal Diagnostic Center, Hainan Branch, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Sanya, China.
The RERE-related disorders are featured by neurodevelopmental problems with or without anomalies of the eyes, heart, kidneys, and genitourinary tract and hearing loss. Previous studies have revealed that the diagnosis of this disease was based on the genetic testing in identification of pathogenic variant in RERE gene. Here, we enrolled a patient presented with slight neurodevelopmental disorder, enuresis and scoliosis.
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