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BACKGROUND: Congenital cataract is a leading cause of childhood blindness worldwide, often caused by genetic mutations that disrupt lens transparency. This study aimed to investigate the molecular mechanisms by which crystallin beta B1 (CRYBB1) mutation contributes to cataract formation. METHODS: We identified a novel heterozygous deletion mutation (c.688_733del) in CRYBB1 in a Chinese Han family with autosomal dominant congenital nuclear cataract. Functional assays were conducted in human lens epithelial cells to assess effects on cell proliferation, migration, cell cycle progression, apoptosis, and oxidative stress. Mechanistic studies evaluated activation of mitochondrial apoptosis pathways. RESULTS: The c.688_733del mutation disrupts conserved domains essential for βB1-crystallin protein folding and stability. Mutant protein impaired cell proliferation and migration, induced G1 cell cycle arrest, and significantly increased apoptosis. Elevated intracellular reactive oxygen species were observed, triggering mitochondrial apoptosis via Bax/Bcl-2 imbalance and caspase-3 activation. CONCLUSION: Oxidative stress-mediated apoptosis is a key pathogenic mechanism in CRYBB1-related cataractogenesis. These findings expand the CRYBB1 mutational spectrum and provide a molecular basis for future diagnostic and therapeutic strategies.
Pubmed ID: 41559635
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Database as central repository for both single base nucleotide substitutions and short deletion and insertion polymorphisms. Distinguishes report of how to assay SNP from use of that SNP with individuals and populations. This separation simplifies some issues of data representation. However, these initial reports describing how to assay SNP will often be accompanied by SNP experiments measuring allele occurrence in individuals and populations. Community can contribute to this resource.
View all literature mentionsSoftware package used for interactive, or batched, statistical analysis in social science, health sciences and marketing. Software platform offers advanced statistical analysis, a library of machine-learning algorithms, text analysis, open-source extensibility, integration with big data and deployment into applications.Versions that were produced by SPSS Inc. before the IBM acquisition (Versions 18 and earlier) would be given origin or publisher of SPSS Inc. in Chicago.
View all literature mentionsDatabase (anonymous FTP) resulting from a collaborative effort to identify a core set of human and mouse protein coding regions that are consistently annotated and of high quality. The long term goal is to support convergence towards a standard set of gene annotations. Collaborators are EBI, NCBI, UCSC, WTSI and the initial results are also available from the participants'''' genome browser Web sites. In addition, CCDS identifiers are indicated on the relevant NCBI RefSeq and Entrez Gene records and in Map Viewer displays of RNA (RefSeq) and Gene annotations on the reference assembly.
View all literature mentionsSoftware for single-cell flow cytometry analysis. Its functions include management, display, manipulation, analysis and publication of the data stream produced by flow and mass cytometers.
View all literature mentionsData analysis service to predict whether an amino acid substitution affects protein function based on sequence homology and the physical properties of amino acids. SIFT can be applied to naturally occurring nonsynonymous polymorphisms and laboratory-induced missense mutations. (entry from Genetic Analysis Software) Web service is also available.
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