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Analysis of Sdhd and Mmp12 in an Affected Solar Keratosis and Control Cohort

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Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 599))

Abstract

The incidence of Squamous Cell Carcinoma (SCG) is growing in certain populations to the extent that it is now the most common skin lesion in young men and women in high ultraviolet exposure regions such as Queensland. In terms of incidence up to 40% of the Australian population over 40 years of age is thought to possess the precancerous Solar Keratosis (SK) lesion and with a small, but significant, chance of progression into SCC, understanding the genetic events that play a role in this process is essential. The major aims of this study were to analyse whole blood derived samples for DNA aberrations in genes associated with tumour development and cellular maintenance, with the ultimate aim of identifying genes associated with non-melanoma skin cancer development. More specifically the first aim of this project was to analyse the SDHD and MMP12 genes via Dual-Labelled Probe Real-Time PCR for copy number aberrations in an affected Solar Keratosis and control cohort. It was found that 12 samples had identifiable copy-number aberrations in either the SDHD or MMP12 gene (this means that a genetic section of either of these two genes is aberrantly amplified or deleted), with five of the samples exhibiting aberrations in both genes. The significance of this study is the contribution to the knowledge of the genetic pathways that are malformed in the progression and development of the pre-cancerous skin lesion Solar Keratosis.

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References

  1. Frost C, Williams G and Green A. High incidence and regression rates of solar keratoses in a Queensland community. J. Invest. Dermatol. 115 (2000), pp. 273-277.

    Article  PubMed  CAS  Google Scholar 

  2. Rosen RH and Studniberg H. Solar keratoses: analysis in a dermatological practice in Australia Nutrition. 44 (2003), pp: 34-39.

    Google Scholar 

  3. Gosslau A and Chen KY. Nutraceuticals, apoptosis, and disease prevention. Oral Oncology. 20 (2004), pp. 95-102.

    CAS  Google Scholar 

  4. Modica-Napolitano JS and Singh KK. Mitochondrial dysfunction in cancer. Mitochondrion. (2004), pp. 1-8.

    Google Scholar 

  5. Warburg O. The origin of cancer cells. Science. 123 (1956), pp. 309-314.

    Article  PubMed  CAS  Google Scholar 

  6. Warburg O, Posenor K and Nehelein E. üden Stoffwechsel der Carcinomzelle. Biochem Z. 152 (1924), pp. 309-345.

    CAS  Google Scholar 

  7. Zeviani M, Spinazzola A and Carelli V. Nuclear genes in mitochondrial disorders. Curr. opin. genetics dev. 13 (2003), pp. 262-270.

    Article  CAS  Google Scholar 

  8. Zeviani, M and Di Donato S. Mitochondrial disorders. tGuarantors of Brain. 127 (2004), pp. 2153-2172.

    Google Scholar 

  9. Gimenez-Roqueplo AP, Favier J, Rustin P, Mourad JJ, Plouin PF, Corvol P, Rotig A and Jeunemaitre X. The R22X mutation of the SDHD gene in hereditary paragangiloma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway. Am. J. Hum. Genet. 69 (2001), pp. 1186-1197.

    Article  PubMed  CAS  Google Scholar 

  10. Saarialho-Kere U, Kerkla E, Jeskanen L, Hasan T, Pierce R, Starcher B, Raudasoja R, Ranki A, Oikarinen A and Vaalamo M. Accumulation of matrilysin (MMP-7) and macrophage metalloelastase (MMP-12) in actinic damage. J. Invest. Dermatol. 113 (1999), pp. 664-672.

    Article  PubMed  CAS  Google Scholar 

  11. Karelina TV, Goldberg GI and Eisen AZ. Matrilysin (PUMP) correlates with dermal invasion during appendageal development and cutaneous neoplasia. J. Invest. Dermatol. 103 (1994), pp. 482-487.

    Article  PubMed  CAS  Google Scholar 

  12. Vaalamo M, Kariniemi A-L, Shapiro SD and Saarialho-Kere U. Enhanced expression of human metalloelastase (MMP-12) in cutaneous granulomas and macrophage migration. J. Invest. Dermatol. 112 (1999), pp. 499-505.

    Article  PubMed  CAS  Google Scholar 

  13. Bernard PS and Wittwer CT. Real-Time PCR technology for cancer diagnostics. Clin. Chem. 48 (2002), pp. 1178-1185.

    PubMed  CAS  Google Scholar 

  14. Mocellin S, Rossi CR and Marincola FM. Quantitative Real-Time PCR in cancer research. Arch. Immunol. ther. Ex. 51 (2003), pp. 301-313.

    CAS  Google Scholar 

  15. Ashton KJ, Weinstein SR, Maguire DJ, and Griffiths LR. Molecular cytogenetic analysis of basal cell carcinoma DNA using comparative genomic hybridisation. J of Invest. Dermatol. 117, No. 3 (2001), pp. 683-686.

    Article  CAS  Google Scholar 

  16. Bertram JS. The molecular biology of cancer. Mol. Aspects Med. 21 (2001), pp. 167-223.

    Article  Google Scholar 

  17. Maguire, D.J., Lintell, N.A., McCabe, M., Griffiths, L.R. & Ashton, K.S. Genomic and phenomic correlations in the respiration of non- melanotic skin cancers. Advances in Experimental Medicine and Biology. 540 (2003), pp. 251-256.

    PubMed  CAS  Google Scholar 

  18. Lintell N. A., Maguire, D. J., McCabe, M. & Griffiths, L.R. Focussing on genomic and phenomic correlations in the respiration of non-melanotic skin cancers. Advances in Experimental Medicine and Biology. 566 (2004), pp. 375-380.

    Google Scholar 

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Lintell, N., Maguire, D., Griffiths, L., McCabe, M. (2008). Analysis of Sdhd and Mmp12 in an Affected Solar Keratosis and Control Cohort. In: Maguire, D.J., Bruley, D.F., Harrison, D.K. (eds) Oxygen Transport to Tissue XXVIII. Advances in Experimental Medicine and Biology, vol 599. Springer, Boston, MA. https://doi.org/10.1007/978-0-387-71764-7_11

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