Motor neuron disease in a patient with a mitochondrial tRNAIle mutation.
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.


CONCLUSIONS
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.
Borthwick
Gillian M
GM
Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, UK.
Taylor
Robert W
RW
Walls
Timothy J
TJ
Tonska
Kasia
K
Taylor
Geoffrey A
GA
Shaw
Pamela J
PJ
Ince
Paul G
PG
Turnbull
Douglass M
DM
D000368:Aged; D004252:DNA Mutational Analysis / Q000379:methods; D004272:DNA, Mitochondrial / Q000235:genetics*; D003576:Electron Transport Complex IV / Q000378:metabolism; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D008297:Male; D016472:Motor Neuron Disease / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D009046:Motor Neurons / Q000378:metabolism / Q000473:pathology; D009154:Mutation; D012333:RNA, Messenger / Q000096:biosynthesis; D012355:RNA, Transfer, Ile / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D013385:Succinate Dehydrogenase / Q000378:metabolism
D004272:DNA, Mitochondrial; D012333:RNA, Messenger; D012355:RNA, Transfer, Ile; D013385:Succinate Dehydrogenase; D003576:Electron Transport Complex IV