Related Experiment Video
Updated: Jun 22, 2025

Assessment of Mitochondrial Functions and Cell Viability in Renal Cells Overexpressing Protein Kinase C Isozymes
Published on: January 7, 2013
The Role of the PAX Genes in Renal Cell Carcinoma
Lei Li1, Sultana Mehbuba Hossain1,2, Michael R Eccles1,2
1Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand.
Abstract:
Renal cell carcinoma (RCC) is a significant oncological challenge due to its heterogeneous nature and limited treatment options. The PAX developmental gene family encodes nine highly conserved transcription factors that play crucial roles in embryonic development and organogenesis, which have been implicated in the occurrence and development of RCC. This review explores the molecular landscape of RCC, with a specific focus on the role of the PAX gene family in RCC tumorigenesis and disease progression. Of the various RCC subtypes, clear cell renal cell carcinoma (ccRCC) is the most prevalent, characterized by the loss of the von Hippel-Lindau (VHL) tumor suppressor gene. Here, we review the published literature on the expression patterns and functional implications of PAX genes, particularly PAX2 and PAX8, in the three most common RCC subtypes, including ccRCC, papillary RCC (PRCC), and chromophobe RCC (ChRCC). Further, we review the interactions and potential biological mechanisms involving PAX genes and VHL loss in driving the pathogenesis of RCC, including the key signaling pathways mediated by VHL in ccRCC and associated mechanisms implicating PAX. Lastly, concurrent with our update regarding PAX gene research in RCC, we review and comment on the targeting of PAX towards the development of novel RCC therapies.
Insights
The PAX gene family, particularly PAX2 and PAX8, plays a key role in renal cell carcinoma (RCC) development. Targeting PAX genes offers potential for novel RCC therapies.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Renal cell carcinoma (RCC) presents a significant challenge due to its complexity and limited treatments.
- The PAX gene family, crucial for development, is implicated in RCC occurrence and progression.
- Clear cell RCC (ccRCC), the most common subtype, is linked to von Hippel-Lindau (VHL) gene loss.
Purpose of the Study:
- To review the role of the PAX gene family in RCC tumorigenesis and progression.
- To examine PAX gene expression and function in common RCC subtypes (ccRCC, PRCC, ChRCC).
- To explore PAX gene interactions with VHL loss in RCC pathogenesis and potential therapeutic strategies.
Main Methods:
- Literature review of published research on PAX genes in RCC.
- Analysis of PAX gene expression patterns and functional implications.
- Review of signaling pathways involving VHL and PAX in ccRCC pathogenesis.
Main Results:
- PAX genes, especially PAX2 and PAX8, are implicated in the development and progression of RCC subtypes.
- VHL loss in ccRCC may interact with PAX genes in disease pathogenesis.
- PAX gene research provides insights into potential novel therapeutic targets for RCC.
Conclusions:
- The PAX gene family is integral to RCC development and progression.
- Understanding PAX-VHL interactions is crucial for elucidating ccRCC pathogenesis.
- Targeting PAX genes represents a promising avenue for developing innovative RCC therapies.
More Related Videos
Related Concept Videos
Abnormal Proliferation
The Retinoblastoma Gene
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,...
Cancer-Critical Genes II: Tumor Suppressor Genes
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
mTOR Signaling and Cancer Progression
The mTOR pathway or the...
Negative Regulator Molecules
Cancer-Critical Genes I: Proto-oncogenes
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...

