title: Motor neuron disease in a patient with a mitochondrial tRNAIle mutation.
abstract: 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.
authors.affiliation: Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, UK.
authors.forename: Gillian M
authors.initials: GM
authors.lastname: Borthwick
authors.forename: Robert W
authors.initials: RW
authors.lastname: Taylor
authors.forename: Timothy J
authors.initials: TJ
authors.lastname: Walls
authors.forename: Kasia
authors.initials: K
authors.lastname: Tonska
authors.forename: Geoffrey A
authors.initials: GA
authors.lastname: Taylor
authors.forename: Pamela J
authors.initials: PJ
authors.lastname: Shaw
authors.forename: Paul G
authors.initials: PG
authors.lastname: Ince
authors.forename: Douglass M
authors.initials: DM
authors.lastname: Turnbull
mesh_terms: 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
chemical_list: D004272:DNA, Mitochondrial; D012333:RNA, Messenger; D012355:RNA, Transfer, Ile; D013385:Succinate Dehydrogenase; D003576:Electron Transport Complex IV