Journal of Neurology

, Volume 254, Issue 4, pp 482–487 | Cite as

Investigation of the mitochondrial genome in patients with atypical motor neuron disease

  • Catherine Phoenix
  • Geoffrey A. Taylor
  • Judith Hartley
  • Hannah Nixon
  • Paul G. Ince
  • Pamela J. Shaw
  • Douglass M. Turnbull
  • Robert W. Taylor
ORIGINAL COMMUNICATION

Abstract

The molecular aetiology of many patients with motor neuron disease (MND) remains unknown. Recent evidence of mitochondrial dysfunction, in particular the finding of histochemical abnormalities and pathogenic mitochondrial DNA (mtDNA) mutations, has prompted us to investigate further the role of mtDNA abnormalities in a cohort of thirteen patients with atypical MND presentations by whole mitochondrial genome sequencing. No pathogenic mutations were detected suggesting that inherited mtDNA mutations are not a common cause of atypical MND presentations.

Key words

motor neuron disease mitochondrial DNA mutation pathogenicity genome sequencing 

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Copyright information

© Steinkopff-Verlag 2007

Authors and Affiliations

  • Catherine Phoenix
    • 1
  • Geoffrey A. Taylor
    • 1
  • Judith Hartley
    • 2
  • Hannah Nixon
    • 2
  • Paul G. Ince
    • 3
  • Pamela J. Shaw
    • 2
  • Douglass M. Turnbull
    • 1
  • Robert W. Taylor
    • 1
  1. 1.Mitochondrial Research Group, School of Neurology, Neurobiology and PsychiatryThe Medical School, University of NewcastleNewcastle NE2 4HHUK
  2. 2.Motor Neurone Disorders Research Group, Academic Neurology UnitThe Medical School, University of SheffieldUK
  3. 3.Academic Unit of PathologyThe Medical School, University of SheffieldUK

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