In 1975, our laboratory started research and diagnostics of mitochondrial myopathies with 3 employees. Nowadays, we examine more than 600 patient samples each year. The experience and knowledge about functioning and disfunctioning of mitochondria in health and disease that we have build up in the past decades is applied to the diagnostic analysis of new patients in our center every day.
The biochemical laboratory offers a broad diagnostic package for the functional analysis of the mitochondrial energy generating system in different types of tissue samples and cultured cells. Analysis of a fresh muscle biopsy is regarded to be the gold standard in the diagnostics of mitochondrial disorders. In a freshly collected muscle sample, the overall activity of the mitochondrial ATP generating system is evaluated by measurements of oxidation rates of several 14C-labelled substrates, and production of ATP from the oxidation of pyruvate + malate. In addition, activities of single enzymes from the respiratory chain (complex I, II, III, and IV), ATPase/complex V and pyruvate dehydrogenase (PDHc) are measured in fresh muscle biopsies. In frozen muscle biopsies (and biopsies from other tissues) complex I, II, III, and IV, as well as PDHc can be measured. In fibroblasts both the overall capacity of the energy generating system and single enzymes (complex I, II, III, IV, V, PDHc, pyruvate carboxylase) can be measured. In both muscle and fibroblasts, coenzyme Q10 can be measured by HPLC-ECD. Should the diagnostic results give cause for this, several additional laboratory tests are available that are performed on research base. In certain cases we can also offer prenatal diagnostics at the enzyme level for PDHc, complex l, complex lV, and complex V.
Recently we have set up a functional genomics facility for the analysis of the functional implications of new sequence variations (obtained by Sangers sequencing, whole exome sequencing or whole genome sequencing) in genes encoding proteins involved in the mitochondrial energy generating system. For more information, please inquire.
Diagnostic request forms
Please find here the forms when sending us samples for diagnostic analysis:
Reporting of results
A written report concerning the biochemical studies performed in skeletal muscle will be supplied within 6 to 8 weeks. Depending on the growth characteristics of the cells, results of fibroblast biochemical analysis will be reported within 3 months.
In accordance with the Dutch regulations for enzyme diagnostics.
For details please contact our secretary (Tel: +31 24 3614567).