Mitochondrial disorders are characterised by protean neurological manifestations including peripheral neuropathy. The neuropathy is typically an axonal process, with a proposed mechanism being degradation of the membrane potential of the axon due to dysfunction of energy-dependent Na+/K+ ATPase pump. To address this issue, we studied the excitability of motor axons in the median nerve in 16 individuals identified with gene testing or muscle biopsy. Twelve patients had clinical or nerve conduction abnormalities. Strength–duration time constant, threshold electrotonus, current–threshold relationship and recovery cycle were identical to control values. These findings imply that an alternative mechanism to a change in membrane potential is responsible for neuronal injury in these patients.
- Nerve excitability
- mitochondrial disease
- peripheral neuropathy
- membrane potential
Statistics from Altmetric.com
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.
Funding National Health and Medical Research Council of Australia (ID No. 521316) and the Royal Australasian College of Physicians Glaxo-Smith-Kline Fellowship.
Competing interests None.
Ethics approval This study was conducted with the approval of the University of Sydney and the Northern Sydney Central Coast Health Area Service.
Provenance and peer review Not commissioned; externally peer reviewed.