Characterization of N6-Methyladenosine lncRNAs in sporadic congenital cataract and age-related cataract
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ABSTRACT:
ORGANISM(S): Homo sapiens
PROVIDER: GSE221970 | GEO | 2024/11/06
REPOSITORIES: GEO
Similar Datasets
Project description:Characterization of N6-Methyladenosine lncRNAs in sporadic congenital cataract and age-related cataract
| PRJNA917038 | ENA
Project description:To explore the involvement of N6-methyladenosine (m6A) modification in circular RNAs (circRNAs) and relevant methyltransferases in the lesion of lens epithelium cells (LECs) under the circumstances of age-related cataract (ARC).
2020-08-26 | GSE153722 | GEO
Project description:Purpose: Comorbid familial non-obstructive azoospermia (NOA) and congenital cataract (CC) has not been reported previously, and no single human gene has been associated with both diseases in humans. Our purpose is to uncover novel human mutations and genes causing familial NOA and CC. Methods: We performed whole-exome sequencing for two brothers with both NOA and CC from a consanguineous family.The proband was also carried out SNP array analysis. Mutation screening of TDRD7 was performed in another similar consanguineous family and 176 patients with azoospermia or CC alone and 520 healthy controls. Histological analysis was performed for the biopsied testicle sample in one patient, and knockout mice were constructed to verify the phenotype of the mutation in TDRD7. Results: Two novel loss-of-function mutations (c.324_325insA (T110Nfs*30) and (c.688-689insA (p.Y230X), respectively) of TDRD7 were found in the affected patients from the two unrelated consanguineous families. Histological analysis demonstrated a lack of mature sperm in the male patient’s seminiferous tubules. The mutations were not detected in patients with CC or NOA alone. Mice with Tdrd7 gene disrupted at a similar position precisely replicated the human syndrome. Conclusions: We identified TDRD7 causing CC as a new pathogenic gene for male azoospermia in human, with an autosomal recessive mode of inheritance.
2017-06-15 | GSE100019 | GEO
Project description:To explore the regulatory mechanism of age-related cataract (ARC) formation and progression，we construct sodium selenite-induced rat cataract model and performed the high-throughput RNA sequencing (HTS) technology to identify the mRNA and miRNA expression profiles of the lens from Na2Se03-induced and saline - injected Sprague Dawley rats.
2023-11-22 | GSE226273 | GEO
Project description:To explore the regulatory mechanism of age-related cataract (ARC) formation and progression，we construct sodium selenite-induced rat cataract model and performed the high-throughput RNA sequencing (HTS) technology to identify the mRNA and miRNA expression profiles of the lens from Na2Se03-induced and saline - injected Sprague Dawley rats.
2023-11-22 | GSE226272 | GEO
Project description:BackgroundCataracts remain a prime reason for visual disturbance and blindness all over the world, despite the capacity for successful surgical replacement with artificial lenses. Diabetic cataract (DC), a metabolic complication, usually occurs at an earlier age and progresses faster than age-related cataracts. Evidence has linked N6-methyladenosine (m6A) to DC progression. However, there exists a lack of understanding regarding RNA m6A modifications and the role of m6A in DC pathogenesis.AimTo elucidate the role played by altered m6A and differentially expressed mRNAs (DEmRNAs) in DC.MethodsAnterior lens capsules were collected from the control subjects and patients with DC. M6A epitranscriptomic microarray was performed to investigate the altered m6A modifications and determine the DEmRNAs. Through Gene Ontology and pathway enrichment (Kyoto Encyclopedia of Genes and Genomes) analyses, the potential role played by dysregulated m6A modification was predicted. Real-time polymerase chain reaction was further carried out to identify the dysregulated expression of RNA methyltransferases, demethylases, and readers.ResultsIncreased m6A abundance levels were found in the total mRNA of DC samples. Bioinformatics analysis predicted that ferroptosis pathways could be associated with m6A-modified mRNAs. The levels of five methylation-related genes-RBM15, WTAP, ALKBH5, FTO, and YTHDF1-were upregulated in DC samples. Upregulation of RBM15 expression was verified in SRA01/04 cells with high-glucose medium and in samples from DC patients.ConclusionM6a mRNA modifications may be involved in DC progression via the ferroptosis pathway, rendering novel insights into therapeutic strategies for DC.
| S-EPMC10401451 | biostudies-literature
Project description:BackgroundSoft tissue sarcomas (STSs) are rare tumors and occur at any site in the body. Our goal was to identify a putative molecular mechanism for N6-methyladenosine (m6A) lncRNA alteration and to develop predictive biomarkers for sarcoma.MethodsThe lncRNA levels were obtained from TCGA datasets. Pearson correlation analysis was used to select all the lncRNAs that are connected to m6A. An m6A-related lncRNA model was built using LASSO Cox regression. To assess the prognostic efficiency of the model and potential lncRNAs, we performed univariate survival analysis and receiver operating characteristic (ROC) analysis. We also performed enrichment analysis to evaluate the roles of the potential genes. Finally, quantitative real-time polymerase chain reaction (qRT-PCR) was utilized to confirm m6A-related lncRNA expression in tissues.ResultsFollowing Pearson correlation analysis on TCGA datasets, we identified 78 m6A-related lncRNAs. Next, we used LASSO Cox regression analysis and identified 13 m6A-related lncRNAs as prognostic lncRNAs. After calculating risk scores, sarcoma patients were divided into high- and low-risk groups depending on the median of risk scores. We also found that these lncRNAs were immune associated via enrichment analysis.ConclusionsHere, we found that SNHG1, FIRRE, and YEATS2-AS1 could serve as biomarkers to predict overall survival of sarcoma patients, which provides a new insight into treatment of STS.
| S-EPMC9166981 | biostudies-literature
Project description:Whole exome sequencing to identify potentially relevant mutations of congenital cataract in a Chinese girl.
The novel PAX6 mutation (c.221G>A) is associated with congenital cataract, and the WFS1 mutation (c.2070_2079del) interactively aggravates this process.
| EGAS00001005673 | EGA
Project description:Accumulating studies have demonstrated critical roles of N6-methyladenosine (m6A) modification and long noncoding RNAs (lncRNAs) in the biological processes leading to occurrence, development and chemoresistance of cancers. However, the specific identities and functional roles of lncRNAs associated with m6A modification in hepatocellular carcinoma (HCC) remain elusive. In this study, eighty-two prognostic m6A-related lncRNAs (m6A-LncRNAs) were identified in HCC datasets. Patients with HCC were classified into three subtypes (C1, C2 and C3) based on the expression of the m6A-LncRNAs. The three subtypes showed significant differences in clinical features, immune and stromal infiltration signatures, and immunotherapy sensitivity. Subclass C1 was notable for high immune and stromal cell infiltration and active immune responses, low serum α-fetoprotein (AFP) levels and high sensitivity to immune checkpoint inhibitors (ICIs). Subclass C2 showed high metabolic activities and absence of immune infiltration with favorable prognosis. Subclass C3 was associated with an exhausted immune environment, high serum AFP and poor prognosis. Notably, subclass C3 displayed high expression of immune checkpoints but failed to respond to ICIs. Finally, 12 m6A-LncRNA signatures were identified for HCC classification and validated in an external dataset. This integrated analysis indicated that the interactions between m6A methylation and lncRNAs are involved in immune and stromal cell infiltration in HCC, and may provide novel insights into precision diagnostics as well as therapeutics for HCC patients.
| S-EPMC9556473 | biostudies-literature
Project description:BackgroundThe connection between m6A-assiociateed lncRNAs and prognosis has been demonstrated in multiple types of tumors. However, potential roles of m6A-assiociateed lncRNAs in glioma is still rare.MethodsWe implemented consensus cluster analysis to group the downloaded samples into two subtypes. The least absolute shrinkage and selection operator (LASSO) analysis was used to create a risk model. Additionally, the conjunction between m6A-related lncRNAs and immune cells infiltration was explored by conducting the R package. Ultimately, we inspected the underlying downstream pathways of the two subtypes by performing Gene Set Enrichment Analysis (GSEA). The expression level of m6A-connected lncRNAs in glioma were examined by conducting in vitro experiments.ResultsWe ascertained two subtypes of glioma in line with the consensus clustering of m6A-associated lncRNAs. We confirmed that age, grade, and IDH are related to the two subtypes. Additionally, the immune cells infiltration and immune checkpoint molecules of the two clusters were discussed. A risk signature including AL359643.3, AL445524.1, AL162231.2, AL117332.1, AP001486.2, POLR2J4, AC120036.4, LINC00641, LINC00900, CRNDE, and AL158212.3, was identified using the Cox regression and LASSO analyses. We also verified the prognostic value and discussed the immune cells infiltration and immune checkpoint molecules of the risk signature. In vitro experiments verified that the m6A-associated lncRNAs was abnormally expressed in glioma.ConclusionWe elaborated the significant role of m6A-connected lncRNAs in glioma prognosis and immune infiltration and suggest that these key regulators may serve as underlying therapeutic targets to build up the efficacy of glioma immunotherapy.
| S-EPMC10170299 | biostudies-literature