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Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
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Published on: February 3, 2012

Expression changes of the MAD mitotic checkpoint gene family in renal cell carcinomas characterized by numerical

Mafalda Pinto1, Maria J Soares, Nuno Cerveira

  • 1Department of Genetics, Portuguese Oncology Institute, Rua Dr António Bernardino de Almeida, 4200-072,, Porto, Portugal.

Virchows Archiv : an International Journal of Pathology
|March 3, 2007
PubMed

Insights

Altered expression of mitotic arrest genes (MAD1, MAD2L1, MAD2L2) is linked to numerical chromosome changes in kidney cancer. These changes are characteristic of papillary and chromophobe renal cell carcinomas.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Papillary and chromophobe renal cell carcinomas exhibit distinct numerical chromosome abnormalities.
  • The molecular basis for these chromosomal changes in renal cell carcinoma subtypes remains unclear.

Purpose of the Study:

  • To investigate the role of mitotic checkpoint gene expression in the development of renal cell carcinoma subtypes.
  • To analyze messenger RNA (mRNA) expression levels of key mitotic checkpoint genes in tumor and normal kidney tissues.

Main Methods:

  • Real-time quantitative polymerase chain reaction (RT-qPCR) was used to measure mRNA expression.
  • Expression levels of budding uninhibited by benzimidazole (BUB) and mitotic arrest deficiency (MAD) gene families were analyzed.
  • Samples included 30 renal cell carcinoma tissues (11 chromophobe, 19 papillary) and 36 normal kidney tissues.

Main Results:

  • Significant differences in MAD1, MAD2L1, and MAD2L2 mRNA expression were observed between tumor and normal tissues.
  • Chromophobe renal cell carcinoma showed underexpression of MAD1 and MAD2L2.
  • Papillary renal cell carcinoma exhibited overexpression of MAD2L1.
  • No significant differences in BUB gene family expression were found.

Conclusions:

  • Expression alterations in MAD1, MAD2L1, and MAD2L2 genes are implicated in renal carcinogenesis.
  • These gene expression changes likely contribute to the characteristic numerical chromosome abnormalities in renal cell carcinoma subtypes.

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