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Published on: October 10, 2025
Nerve conduction abnormalities in patients with MELAS and the A3243G mutation
Petra Kaufmann1, Juan M Pascual, Yaacov Anziska
1Department of Neurology, Columbia University, 710 W. 168th Street, New York, NY 10032, USA.
Archives of Neurology
|May 10, 2006
Summary
Peripheral nerve damage is common in patients with MELAS (mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes) and the A3243G mutation, often without obvious symptoms. Older age and male sex may increase neuropathy risk.
Area of Science:
- Neuroscience
- Genetics
- Mitochondrial Biology
Background:
- Mitochondrial DNA point mutations significantly impact high-energy tissues like the peripheral nervous system.
- Neuropathy is a known complication of mitochondrial disorders, including MELAS (mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes).
Purpose of the Study:
- To assess nerve conduction in a well-defined cohort of MELAS patients carrying the A3243G mutation.
- To correlate genotype and phenotype with neurophysiological findings.
Main Methods:
- Neurophysiological testing was performed on 30 patients with MELAS and the A3243G mutation.
- Data collection included medical histories, laboratory results, and neurological examinations.
Main Results:
- 77% of patients exhibited abnormal nerve conduction, primarily axonal and sensory, predominantly in the lower extremities.
- Neuropathy symptoms were reported by only half, yet most showed reduced reflexes or distal sensory deficits.
- Older age and male sex were associated with increased likelihood of nerve conduction abnormalities.
Conclusions:
- Peripheral nerve impairment is prevalent in MELAS patients with the A3243G mutation, frequently presenting subclinically.
- Genetic predisposition, compounded by older age and male sex, may contribute to neuropathy development.
