Mitochondria are the body's power plants that burn fuel (sugar, fat and protein) to generate energy. Several hundred different genes are required for normal mitochondrial function, so it is perhaps not surprising that mitochondrial disorders are now recognised as one of the most common inborn errors of metabolism, affecting approximately 1 in 5,000 births. Due to the genetic complexity, measurement of mitochondrial respiratory chain enzymes remains the mainstay of diagnostic methods internationally.
Since 1992, we have assayed respiratory chain enzymes in over 2000 patient samples from tissues such as liver, skeletal muscle, cardiac muscle, or cultured cells such as skin fibroblasts, transformed lymphoblasts and chorionic villus cells. We have diagnosed over 450 children with mitochondrial respiratory chain disorders and diagnose 20 to 30 new patients each year. Our success in developing approaches for prenatal diagnosis and prevention has meant that we are being asked to perform increasing numbers of prenatal diagnoses.
We have a major research focus on the molecular genetics of mitochondrial disease. In conjunction with the VCGS Pathology Molecular Genetics lab and collaborators overseas, we have identified pathogenic mutations in over 210 of our patients in 8 mitochondrial DNA genes and 23 nuclear genes, including 8 novel disease genes.
Tests & specimen requirements
Tests: further details on costs and turnaround times
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