Transgenomic discovery services team employs high-sensitivity technologies to explore links between mitochondrial DNA mutations and cancer
Members of Transgenomic's discovery services team and their collaborators will present a research poster entitled 'Comprehensive analysis of human mitochondrial genome in peritoneal mesothelioma tumour samples by DHPLC, Surveyor nuclease, and DNA sequencing' at the Mastering the Mitochondrial Maze symposium, being held in Atlanta 14-17 June 2006.
Mitochondria are specialised compartments present in all cells of the body except red blood cells, and play an important role in cellular energy metabolism, and other processes.
The mitochondria contain their own DNA (mtDNA), distinct from the cellular genome, in which maternally inherited or acquired (somatic) mutations can cause mitochondrial dysfunction.
Impaired functioning of mitochondria is associated with a wide range of degenerative disorders and syndromes including myopathies, encephalomyopathies, and cardiomyopathies.
Recent evidence suggests that mitochondrial dysfunction may contribute to the pathogenesis of Alzheimer's disease, Parkinson's disease, Huntington's disease, amyotrophic lateral sclerosis, hereditary spastic paraplegia, and cerebellar degenerations, as well as multiple cancer types.
Defects in mitochondrial function have long been suspected to contribute to the development and progression of cancer.
However, the detection of acquired mtDNA mutations in solid tumors and hematological malignancies, can pose various technical challenges.
The Transgenomic presentation highlights a multi-pronged approach that enables high-sensitivity scanning of the complete mitochondrial genome for all types of mutations.
Stan Lilleberg, director of translational and clinical research, commented on the significance of the work: "Given prior evidence that mitochondrial DNA mutations may be associated with cancer, this work provides evidence that Transgenomic's technologies provide the basis for a viable approach to identification of mitochondrial DNA biomarkers that may aid in the early detection and monitoring of various cancers".
Lilleberg went on to elaborate on the company's capabilities in the genetic analysis of mitochondrial diseases: "Our high-sensitivity mutation scanning capabilities are of direct relevance in the diagnosis of mitochondrial disease.
"A large number of patients who have the clinical manifestations and pathology findings consistent with mitochondrial DNA disorders do not have detectable common mutations using standard approaches to mtDNA analysis.
"Through our Clia-compliant diagnostic services laboratory, we offer our Mito-ScanGx assay, which includes complete in-depth scanning of the entire mitochondrial genome.
"This whole-genome approach is helping us to understand this heterogenous disease at a level of detail and sensitivity never before possible".
