Overview

Defects in the mitochondrial respiratory chain cause a diverse spectrum of conditions. Some enzyme defects affect one enzyme (e.g., isolated complex I) while others cause combined defects (e.g., combined complex I and IV). The pattern of enzyme deficiency can be useful in guiding and validating mutation analysis.

Category

Cost

Tissues: $1,130

Fbs: $1,525

Reporting time

Tissues: 6 weeks

Fbs: 6 months

Contacts

Prof. David Thorburn

Phone: (03) 8341 6234

Specimen Requirements

Preferred sample: Skeletal muscle, liver, cardiac muscle (depending on clinical history).

Skin fibroblast & transformed lymphoblast cell lines are suitable only in certain circumstances.

Notes

Tissue biopsy/autopsy samples must be stored at -70°C (-20°C is inadequate) until transport on dry ice.

Once frozen, they must not be allowed to thaw.

1. Patient name, medical record no., date of birth, date of sample, delay between death and freezing if relevant

Postmortem Samples: COLLECT AS SOON AFTER DEATH AS POSSIBLE, preferably within 2 hours. Note the time between death and freezing of samples. Tissue samples should be no larger than 1.0 cm cubes; heart, kidney & brain samples may also be collected. Enzymes can be assayed in postmortem heart but endomyocardial microbiopsies are too small. Cultured cells should be sent at room temperature and must not be allowed to freeze.

1. Patient name, medical record no., date of birth, date of sample, delay between death and freezing if relevant

2. Paired plasma lactate & pyruvate levels; multiple estimations preferred.

3. Paired CSF lactate & pyruvate levels, preferably with blood levels obtained at about the same time.

4. Full clinical summary and family history with pedigree.

5. Copies of relevant investigations, as appropriate, including:
- urine organic & amino acids
- tissue histology (including electron microscopy & enzyme histochemistry)
- summary of CT, MRI or MRS studies of brain.