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Related Concept Videos

The Retinoblastoma Gene01:20

The Retinoblastoma Gene

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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
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Nuclear reprogramming is a process of transforming one cell type into an unrelated cell type by epigenetic changes that alter the cell’s original gene expression pattern. Such epigenetic changes force cells to express a different set of genes, which play a significant role in inducing transformation into other cell types. Nuclear reprogramming offers applications in reproductive cloning for livestock propagation and regenerative medicine — developing patient-specific cells for...
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Nuclear reprogramming is the process of switching gene expression of one cell type to that of another cell type, usually from a differentiated cell state to an undifferentiated cell state. Differentiation occurs during processes such as development and morphogenesis, tissue regeneration, and malignancy. Cells can also be artificially induced to reprogram their gene expression by techniques such as nuclear transfer, induced pluripotency, and cell fusion. Such techniques have many applications in...
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Reprogramming alters the gene expression in somatic cells, transforming them into induced pluripotent stem (iPS) cells over several generations. Scientists can reprogram cells by introducing genes for four transcription factors—Oct4, Sox2, Klf4, and c-Myc (OSKM) by viral or non-viral methods. These factors are also known as Yamanaka factors after Shinya Yamanaka, who first generated iPS cells using mouse skin cells. Yamanaka was awarded the Nobel Prize in Physiology or Medicine in 2012...
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Positive regulators allow a cell to advance through cell cycle checkpoints. Negative regulators have an equally important role as they terminate a cell’s progression through the cell cycle—or pause it—until the cell meets specific criteria.
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Inducible and Reversible Dominant-negative DN Protein Inhibition
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Epigenetic Reprogramming by Decitabine in Retinoblastoma.

Lisa Gherardini1, Ankush Sharma2,3, Monia Taranta1

  • 1Institute of Clinical Physiology, National Research Council of Italy, 53100 Siena, Italy.

Frontiers in Bioscience (Landmark Edition)
|April 30, 2025
PubMed
Summary
This summary is machine-generated.

Decitabine (DAC) effectively suppressed retinoblastoma growth in preclinical models by reprogramming epigenetic markers. This epigenetic therapy offers a promising new treatment strategy for childhood eye cancer.

Keywords:
DNA methyltransferase (DNMT) inhibitorscancer therapyepigenetic reprogrammingepigenetic therapyretinoblastoma

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Area of Science:

  • Oncology
  • Epigenetics
  • Pediatric Medicine

Background:

  • Retinoblastoma (Rb) is the most common childhood eye tumor, with sporadic forms having unclear epigenetic effects.
  • Current treatments involve chemotherapy and surgery, necessitating novel therapeutic approaches.
  • Understanding sporadic Rb's epigenetic profile is crucial for developing targeted therapies.

Purpose of the Study:

  • To investigate the epigenetic impact of decitabine (DAC) on retinoblastoma initiation and progression.
  • To evaluate DAC's therapeutic potential as an epigenetic anti-cancer drug for retinoblastoma.

Main Methods:

  • Compared gene expression in WERI-Rb-1 cells, patient tumors, and normal retina.
  • Assessed DAC treatment effects in subcutaneous and orthotopic xenograft models.
  • Utilized qPCR and Methylation-Specific PCR (MSP) for gene expression and methylation analysis.

Main Results:

  • Identified 15 hub/driver genes critical for retinoblastoma genesis and progression.
  • DAC treatment significantly inhibited tumor growth in both subcutaneous and orthotopic xenograft models.
  • Observed changes in gene expression, indicating DAC's potential to reactivate epigenetically silenced genes.

Conclusions:

  • Decitabine (DAC) demonstrates significant potential as an epigenetic therapy for retinoblastoma.
  • DAC effectively suppressed retinoblastoma growth and progression in preclinical models.
  • This epigenetic approach may offer a novel strategy to preserve vision and lives in affected children.