Journal of Neurology

, Volume 250, Issue 3, pp 267–277

Mitochondrial Cytopathies

  • Janet Schmiedel
  • Sandra Jackson
  • Jochen Schäfer
  • Heinz Reichmann
ENS TEACHING REVIEW

DOI: 10.1007/s00415-003-0978-3

Cite this article as:
Schmiedel, J., Jackson, S., Schäfer, J. et al. J Neurol (2003) 250: 267. doi:10.1007/s00415-003-0978-3

Abstract.

Mitochondrial cytopathies represent a heterogeneous group of multisystem disorders which preferentially affect the muscle and nervous systems. They are caused either by mutations in the maternally inherited mitochondrial genome, or by nuclear DNA-mutations. Today, approximately 200 different disease causing mutations of mitochondrial DNA (mtDNA) are known, and due to the increased knowledge about nuclear genetics during the last few years, more and more nuclear mutations are being described. Owing to the non-uniform distribution of mitochondria in tissues and the co-existence of mutated and wildtype mtDNA (heteroplasmy) in these organelles, these disorders may present with a huge variety of symptoms, even if the same mutation is involved. Diagnostic investigations should include the measurement of serum and CSF lactate, neuroradiological tests and a muscle biopsy to show the characteristic ragged-red fibres and cytochrome c oxidase deficient cells and also to provide material for genetic analysis. To date, the treatment of these diseases remains supportive and should focus on typical complications such as cardiac dysrhythmia and endocrinopathy.

Key words mitochondrial cytopathy respiratory chain mtDNA ragged-red fibres lactic acidosis 

Copyright information

© Steinkopff Verlag 2003

Authors and Affiliations

  • Janet Schmiedel
    • 1
  • Sandra Jackson
    • 1
  • Jochen Schäfer
    • 1
  • Heinz Reichmann
    • 1
  1. 1.Department of Neurology, Carl Gustav Carus University Dresden, Fetscherstr. 74, 01307 Dresden, Germany. Janet.Schmiedel@neuro.med.tu-dresden.deDE

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