Mitochondrial DNA (mtDNA) plays a role in respiration and the cell's energy conversion mechanism. Since the late 1990s, researchers at the Johns Hopkins University School of Medicine have observed changes in mtDNA sequences in solid cancers, although the nature of the relationship remains uncertain. Their work suggested that particular changes in mtDNA might serve as early indicators for several types of solid cancer. Although promising, this approach is critically dependent on developing reliable, cost-effective, and highly sensitive methods of analysis to detect the cancer indicators against the background of natural variation in mtDNA.
The NIST Cancer Biomarker Validation and Reference Laboratory assesses cost, efficiency and reliability of potential diagnostic techniques using biomarkers before further clinical evaluation in other laboratories of the EDRN. The lab found that full mitochondrial genome sequencing using capillary electrophoresis detected mtDNA changes associated with early cancer. In ongoing work, NIST is comparing capillary electrophoresis methods with a newly developed DNA sequencing chip. The mtDNA chips are a promising research tool for early clinical cancer diagnosis that may be faster, easier to interpret, and provide higher throughput than other methods. A paper describing the NCI-NIST work appears in the May issue of the Journal of Molecular Diagnostics.*
Funded and coordinated by the National Cancer Institute to speed the development of molecular, genetic and other biomarkers for early cancer detection, the Early Detection Research Network is a national network of research institutions, including developmental labs, validation labs and clinical centers. NIST is one of five reference and validation labs in the EDRN.
*J.P. Jakupciak, W.Wang, M.E. Markowitz, D. Ally, M. Coble, S. Srivastava, A. Maitra, P.E. Barker, D. Sidransky, and C.D. O'Connell. Mitochondrial DNA as a Cancer Biomarker. Journal of Molecular Diagnostics 2005 7: 258-267.
Journal of Molecular Diagnostics