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 350 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 150 of our patients in
8 mitochondrial DNA genes and 10 nuclear genes, including two novel disease genes.
Tests & specimen requirements
Tests: further details on costs and turnaround times
The Team
Laboratory Head
Research
Metabolic Physicians
For Further Information