NARP
Last reviewed 01/2018
This degenerative neurological disease is caused by a maternally-inherited mutation at position 8993 in the mitochondrial genome. This nonsense mutation disrupts the ATPase 6 gene, which is essential for oxidative phosphorylation.
The clinical features of the disease are:
- developmental delay
- ataxia
- retinitis pigmentosa
- muscle weakness
- seizures
- dementia
The higher the proportion of mutant mitochondria in a patient, the more severe the clinical picture.