Related Experiment Videos
Liver failure associated with mitochondrial DNA depletion
A A Morris1, J W Taanman, J Blake
1Metabolic Unit, Institute of Child Health, London, UK.
Journal of Hepatology
|May 5, 1998
Summary
Mitochondrial DNA depletion causes liver failure in infants, often with neuromuscular symptoms. Diagnosis involves assessing liver and muscle histology and measuring mitochondrial DNA levels.
Area of Science:
- Genetics
- Pediatrics
- Hepatology
Background:
- Infantile liver failure can stem from mitochondrial respiratory chain disorders.
- Mitochondrial DNA depletion, a significant reduction in mitochondrial DNA, is a key factor.
- This study reviews clinical and pathological data from five patients with this condition.
Observation:
- All patients with mitochondrial DNA depletion experienced liver failure.
- Associated symptoms included hypotonia, hypoglycemia, neurological issues (e.g., Leigh syndrome), and cataracts.
- Liver histology revealed fatty changes, bile duct proliferation, architectural collapse, fibrosis, and reduced cytochrome oxidase activity.
Findings:
- Muscle biopsies in some patients showed mitochondrial proliferation and variable cytochrome oxidase activity, with mitochondrial DNA levels below 5% of controls.
- Two patients from one family had normal muscle histology but less severe mitochondrial DNA depletion.
- Histological findings in liver and muscle, alongside mitochondrial DNA quantification, aid diagnosis.
Implications:
- Liver failure is a common outcome of mitochondrial DNA depletion in infants.
- Neuromuscular diseases frequently co-occur with this condition.
- Measuring mitochondrial DNA levels is crucial for diagnosing liver failure suspected to be caused by respiratory chain disease.