PUBLICATION

Transcriptome alterations in sf3b4-depleted zebrafish: Insights into cataract formation in retinitis pigmentosa model

Authors
Ulhaq, Z.S., Ogino, Y., Tse, W.K.F.
ID
ZDB-PUB-240205-5
Date
2024
Source
Experimental Eye Research   240: 109819 (Journal)
Registered Authors
Ulhaq, Zulvikar Syambani
Keywords
Cytokines, Inflammation, Lens opacification, TGF-β, Transcriptomic
MeSH Terms
  • Animals
  • Capsule Opacification*/etiology
  • Cataract*/etiology
  • Crystallins*/genetics
  • Humans
  • Lens, Crystalline*
  • Retinitis Pigmentosa*/diagnosis
  • Retinitis Pigmentosa*/genetics
  • Transcriptome
  • Zebrafish/genetics
PubMed
38311285 Full text @ Exp. Eye. Res.
Abstract
Posterior subcapsular cataract (PSC) frequently develops as a complication in patients with retinitis pigmentosa (RP). Despite numerous scientific investigations, the intricate pathomechanisms underlying cataract formation in individuals affected by RP remain elusive. Therefore, our study aims to elucidate the potential pathogenesis of cataracts in an RP model using splicing factor subunit 3b (sf3b4) mutant zebrafish. By analyzing our previously published transcriptome dataset, we identified that, in addition to RP, cataract was listed as the second condition in our transcriptomic analysis. Furthermore, we confirmed the presence of nucleus retention in the lens fiber cells, along with abnormal cytoskeleton expression in both the lens fiber cells and lens epithelial cells in sf3b4-depleted fish. Upon closer examination, we identified 20 differentially expressed genes (DEGs) that played a role in cataract fo rmation, with 95 % of them related to the downregulation of structural lens proteins. Additionally, we also identifed that among all the DEGs, 13 % were associated with fibrotic processes. It seems that the significant upregulation of inflammatory mediators, in conjunction with TGF-β signaling, plays a central role in the cellular biology of PSC and posterior capsular opacification (PCO) in sf3b4 mutant fish. In summary, our study provides valuable insights into cataract formation in the RP model of sf3b4 mutants, highlighting its complexity driven by changes in structural lens proteins and increased cytokines/growth factors.
Genes / Markers
Figures
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Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping