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Motor neuron disease in a patient with a mitochondrial tRNAIle mutation
Gillian M Borthwick1, Robert W Taylor, Timothy J Walls
1Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, UK.
Objective:
Motor neuron disease (MND) is a common neurodegenerative condition for which the underlying cause is uncertain in many patients. We identified a patient with clinical features suggestive of MND but additional cardiac and metabolic symptoms. We wished to determine if the clinical features were due to a mitochondrial DNA mutation.
Methods:
The brain and spinal cord were studied using neuropathological techniques and agenetic defect investigated in individual neurons.
Results:
There were atypical neuropathological features and genetic studies identified a pathogenic, heteroplasmic mitochondria tRNA(Ile) (4274T>C) mutation.
Interpretation:
This case adds to the phenotypic variation seen in mitochondrial DNA disease but also highlights the potential role of mitochondrial dysfunction in the cause of MND.
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